mneb/biored · Datasets at Hugging Face

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Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of t...	{ "entities": { "gene or gene product": [ { "text": "Hepatocyte nuclear factor-6", "start": 0, "end": 27 }, { "text": "insulin", "start": 140, "end": 147 }, { "text": "hepatocyte nuclear factor (HNF)-6", "start": 184, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of ...	{ "entities": { "gene or gene product": [ { "text": "insulin", "start": 395, "end": 402 }, { "text": "C-peptide", "start": 406, "end": 415 }, { "text": "HNF-6", "start": 467, "end": 472 }, { "...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. We have identified a type II Ca2+-dependent lectin displaying mannose-binding specificity, exclusively expressed by Langerhans cells (LC), and named Langerin. LC are uniquely characteri...	{ "entities": { "gene or gene product": [ { "text": "Langerin", "start": 0, "end": 8 }, { "text": "C-type lectin", "start": 18, "end": 31 }, { "text": "type II Ca2+-dependent lectin", "start": 156, "end": 185 ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with...	{ "entities": { "gene or gene product": [ { "text": "BRCA1", "start": 25, "end": 30 }, { "text": "BRCA1", "start": 147, "end": 152 }, { "text": "BRCA2", "start": 157, "end": 162 }, { "text": "...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, ...	{ "entities": { "gene or gene product": [ { "text": "BRCA2", "start": 0, "end": 5 } ], "disease or phenotypic feature": [ { "text": "breast-ovarian cancer syndrome", "start": 23, "end": 53 }, { "text": "BRCA1 abnormaliti...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Apomorphine: an underutilized therapy for Parkinson's disease. Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administrat...	{ "entities": { "chemical entity": [ { "text": "Apomorphine", "start": 0, "end": 11 }, { "text": "Apomorphine", "start": 63, "end": 74 }, { "text": "dopaminergic drug", "start": 89, "end": 106 }, { ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine tr...	{ "entities": { "chemical entity": [ { "text": "levodopa", "start": 49, "end": 57 }, { "text": "apomorphine", "start": 117, "end": 128 }, { "text": "apomorphine", "start": 306, "end": 317 } ], "dise...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational...	{ "entities": { "gene or gene product": [ { "text": "Rab6c", "start": 0, "end": 5 }, { "text": "rab", "start": 27, "end": 30 }, { "text": "Rab6", "start": 101, "end": 105 }, { "text": "Rab6c",...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramaticall...	{ "entities": { "disease or phenotypic feature": [ { "text": "End-stage renal disease", "start": 0, "end": 23 }, { "text": "ESRD", "start": 25, "end": 29 }, { "text": "nephrotoxic", "start": 239, "end": 250 ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise log...	{ "entities": { "disease or phenotypic feature": [ { "text": "ESRD", "start": 0, "end": 4 }, { "text": "CRF", "start": 44, "end": 47 }, { "text": "ESRD", "start": 52, "end": 56 }, { "text": "h...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-...	{ "entities": { "disease or phenotypic feature": [ { "text": "ESRD", "start": 58, "end": 62 }, { "text": "hepatorenal syndrome", "start": 146, "end": 166 }, { "text": "CRF", "start": 283, "end": 286 }, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a f...	{ "entities": { "sequence variant": [ { "text": "D90A", "start": 0, "end": 4 }, { "text": "D90A", "start": 362, "end": 366 }, { "text": "D90A", "start": 585, "end": 589 }, { "text": "D90A", ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
arose subsequently only c.63 generations ago (alpha 0.878). Recombination has reduced the region shared by recessive kindreds to 97-265 kb around SOD1, excluding all neighbouring genes. We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susce...	{ "entities": { "sequence variant": [ { "text": "D90A", "start": 259, "end": 263 } ], "gene or gene product": [ { "text": "SOD1", "start": 146, "end": 150 }, { "text": "SOD1", "start": 264, "end": 268 ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In ...	{ "entities": { "disease or phenotypic feature": [ { "text": "metachromatic leukodystrophy", "start": 11, "end": 39 }, { "text": "metachromatic leukodystrophy", "start": 159, "end": 187 }, { "text": "MLD", "start": 189, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated childre...	{ "entities": { "disease or phenotypic feature": [ { "text": "deafness", "start": 17, "end": 25 }, { "text": "non-syndromic autosomal recessive deafness", "start": 117, "end": 159 }, { "text": "NSARD", "start": 161, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
g.3697G>A [p.Arg127His], g.3774G>A [p.Val153Ile], and g.3795G>A [p.Gly160Ser] were identified. With the exception of g.3318-34C>T and g.3352delG, all variants occurred heterozygously. For most of the variants identified in the Kenyan and Sudanese study population, a causative association with NSARD appears to be unlike...	{ "entities": { "disease or phenotypic feature": [ { "text": "NSARD", "start": 294, "end": 299 }, { "text": "deafness", "start": 362, "end": 370 }, { "text": "deafness", "start": 522, "end": 530 } ], ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gen...	{ "entities": { "gene or gene product": [ { "text": "PCSK9", "start": 17, "end": 22 }, { "text": "Proprotein convertase subtilisin/kexin type 9", "start": 96, "end": 141 }, { "text": "PCSK9", "start": 143, "end":...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes accoun...	{ "entities": { "disease or phenotypic feature": [ { "text": "Desmin-related myopathy", "start": 0, "end": 23 }, { "text": "Desmin-related myopathies", "start": 110, "end": 135 }, { "text": "DRMs", "start": 137, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosol...	{ "entities": { "disease or phenotypic feature": [ { "text": "DRM", "start": 40, "end": 43 }, { "text": "SEPN-RM", "start": 48, "end": 55 }, { "text": "DRM", "start": 121, "end": 124 }, { "tex...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes. DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chro...	{ "entities": { "gene or gene product": [ { "text": "HIRA", "start": 34, "end": 38 }, { "text": "Tuple1", "start": 39, "end": 45 }, { "text": "HIRA", "start": 675, "end": 679 }, { "text": "Tup...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
transcritpion in DGS/VCFS.	{ "entities": { "disease or phenotypic feature": [ { "text": "DGS", "start": 17, "end": 20 }, { "text": "VCFS", "start": 21, "end": 25 } ] } }	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to...	{ "entities": { "disease or phenotypic feature": [ { "text": "left ventricular systolic and diastolic dysfunction", "start": 18, "end": 69 }, { "text": "cardiomyopathy", "start": 143, "end": 157 }, { "text": "myocardial dysfunct...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors t...	{ "entities": { "gene or gene product": [ { "text": "cyclooxygenase-2", "start": 15, "end": 31 }, { "text": "cyclooxygenase (COX)-2", "start": 276, "end": 298 }, { "text": "COX-2", "start": 444, "end": 449 ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs...	{ "entities": { "chemical entity": [ { "text": "valdecoxib", "start": 49, "end": 59 }, { "text": "NSAIDs", "start": 61, "end": 67 }, { "text": "valdecoxib", "start": 146, "end": 156 }, { "text...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal...	{ "entities": { "gene or gene product": [ { "text": "WFS1", "start": 26, "end": 30 }, { "text": "WFS1", "start": 390, "end": 394 }, { "text": "WFS1", "start": 559, "end": 563 } ], "sequence variant"...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach. Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in no...	{ "entities": { "disease or phenotypic feature": [ { "text": "migraine", "start": 73, "end": 81 }, { "text": "Migraine", "start": 112, "end": 120 }, { "text": "headache disorder", "start": 154, "end": 171 }...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
application of this high-throughput genotyping method, negative results from the two-stage DNA pooling design used to screen loci within the TPH, AADC and MAOA genes did not support their role in migraine susceptibility.	{ "entities": { "disease or phenotypic feature": [ { "text": "migraine", "start": 196, "end": 204 } ], "gene or gene product": [ { "text": "TPH", "start": 141, "end": 144 }, { "text": "AADC", "start": 146, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was...	{ "entities": { "chemical entity": [ { "text": "5-Fluorouracil", "start": 0, "end": 14 }, { "text": "alpha-fluoro-beta-alanine", "start": 41, "end": 66 }, { "text": "5-fluorouracil", "start": 123, "end": 137 ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The exper...	{ "entities": { "chemical entity": [ { "text": "5-FU", "start": 19, "end": 23 }, { "text": "FBAL", "start": 29, "end": 33 }, { "text": "FBAL", "start": 45, "end": 49 }, { "text": "S-1", ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Pilocarpine seizures cause age-dependent impairment in auditory location discrimination. Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in audito...	{ "entities": { "chemical entity": [ { "text": "Pilocarpine", "start": 0, "end": 11 }, { "text": "pilocarpine", "start": 585, "end": 596 }, { "text": "Pilocarpine", "start": 612, "end": 623 } ], "di...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Status epilepticus in rat causes an age-dependent, long-term impairment in auditory discrimination. This impairment may explain one cause of impaired auditory location discrimination in humans.	{ "entities": { "disease or phenotypic feature": [ { "text": "Status epilepticus", "start": 0, "end": 18 }, { "text": "impairment in auditory discrimination", "start": 61, "end": 98 }, { "text": "impaired auditory location discr...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk ...	{ "entities": { "sequence variant": [ { "text": "-1123 G>C", "start": 27, "end": 36 }, { "text": "+2740 A>G", "start": 40, "end": 49 }, { "text": "+1858C>T", "start": 250, "end": 258 }, { "tex...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the h...	{ "entities": { "sequence variant": [ { "text": "(W) allele at codon 620", "start": 350, "end": 373 }, { "text": "(R) allele at codon 620", "start": 552, "end": 575 } ], "gene or gene product": [ { "text": "PTPN22", ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to ...	{ "entities": { "sequence variant": [ { "text": "C-to-T substitution at -31", "start": 18, "end": 44 }, { "text": "-31T/C", "start": 258, "end": 264 }, { "text": "-511C/T", "start": 269, "end": 276 }, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=...	{ "entities": { "sequence variant": [ { "text": "-31TT", "start": 260, "end": 265 }, { "text": "-511CC", "start": 274, "end": 280 }, { "text": "-31TT", "start": 422, "end": 427 }, { "text": "-...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been repor...	{ "entities": { "chemical entity": [ { "text": "Chloroacetaldehyde", "start": 0, "end": 18 }, { "text": "sulfhydryl reagent", "start": 24, "end": 42 }, { "text": "thiol", "start": 65, "end": 70 }, { ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acid...	{ "entities": { "chemical entity": [ { "text": "CAA", "start": 0, "end": 3 }, { "text": "thiol", "start": 9, "end": 14 }, { "text": "CAA", "start": 55, "end": 58 }, { "text": "thiol", ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Delayed institution of hypertension during focal cerebral ischemia: effect on brain edema. The effect of induced hypertension instituted after a 2-h delay following middle cerebral artery occlusion (MCAO) on brain edema formation and histochemical injury was studied. Under isoflurane anesthesia, the MCA of 14 spontaneo...	{ "entities": { "disease or phenotypic feature": [ { "text": "hypertension", "start": 23, "end": 35 }, { "text": "cerebral ischemia", "start": 49, "end": 66 }, { "text": "brain edema", "start": 78, "end": 89 ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
than 0.05). The area of histochemical injury (as a percent of the cross-sectional area of the hemisphere) was less in the hypertensive group (33 +/- 3% vs 21 +/- 2%, P less than 0.05). The data indicate that phenylephrine-induced hypertension instituted 2 h after MCAO does not aggravate edema in the ischemic core, that...	{ "entities": { "disease or phenotypic feature": [ { "text": "hypertensive", "start": 122, "end": 134 }, { "text": "hypertension", "start": 230, "end": 242 }, { "text": "MCAO", "start": 264, "end": 268 }, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was ...	{ "entities": { "gene or gene product": [ { "text": "phosphatidylethanolamine N-methyltransferase", "start": 4, "end": 48 }, { "text": "phosphatidylethanolamine N-methyltransferase", "start": 332, "end": 376 }, { "text": "PEMT",...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
carriers of Val175Met variant than in homozygotes of wild type PEMT. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NA...	{ "entities": { "gene or gene product": [ { "text": "PEMT", "start": 63, "end": 67 }, { "text": "PEMT", "start": 103, "end": 107 }, { "text": "PEMT", "start": 286, "end": 290 } ], "sequence variant"...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomod...	{ "entities": { "gene or gene product": [ { "text": "Tenomodulin", "start": 0, "end": 11 }, { "text": "tenomodulin", "start": 313, "end": 324 }, { "text": "TNMD", "start": 326, "end": 330 } ], "dise...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men.	{ "entities": { "gene or gene product": [ { "text": "TNMD", "start": 196, "end": 200 } ], "disease or phenotypic feature": [ { "text": "adiposity", "start": 235, "end": 244 }, { "text": "IGT", "start": 298, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of t...	{ "entities": { "organism taxon": [ { "text": "patients", "start": 97, "end": 105 }, { "text": "bacteria", "start": 343, "end": 351 }, { "text": "bacteria", "start": 446, "end": 454 }, { "text...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with...	{ "entities": { "organism taxon": [ { "text": "patients", "start": 337, "end": 345 }, { "text": "patients", "start": 435, "end": 443 }, { "text": "patients", "start": 739, "end": 747 }, { "tex...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
(20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding...	{ "entities": { "disease or phenotypic feature": [ { "text": "IBD", "start": 372, "end": 375 } ], "gene or gene product": [ { "text": "innate immune receptor", "start": 71, "end": 93 }, { "text": "CARD15", "start...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide pos...	{ "entities": { "gene or gene product": [ { "text": "FGFR3", "start": 63, "end": 68 }, { "text": "fibroblast growth factor receptor 3", "start": 348, "end": 383 }, { "text": "FGFR3", "start": 385, "end": 390 ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
laboratories.	{ "entities": {} }	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Genetic investigation of four meiotic genes in women with premature ovarian failure. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure ...	{ "entities": { "organism taxon": [ { "text": "women", "start": 47, "end": 52 }, { "text": "S. cerevisiae", "start": 242, "end": 255 }, { "text": "patients", "start": 464, "end": 472 }, { "tex...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian fun...	{ "entities": { "organism taxon": [ { "text": "patients", "start": 138, "end": 146 } ], "disease or phenotypic feature": [ { "text": "infertility", "start": 65, "end": 76 }, { "text": "POF", "start": 378, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymor...	{ "entities": { "gene or gene product": [ { "text": "IRF5", "start": 40, "end": 44 }, { "text": "Interferon regulatory factor 5", "start": 159, "end": 189 }, { "text": "IRF5", "start": 191, "end": 195 }, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis). When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, ...	{ "entities": { "gene or gene product": [ { "text": "IRF5", "start": 561, "end": 565 } ], "disease or phenotypic feature": [ { "text": "RA", "start": 189, "end": 191 }, { "text": "RA", "start": 428, "end"...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MM...	{ "entities": { "gene or gene product": [ { "text": "MMP1", "start": 51, "end": 55 }, { "text": "Matrix metalloproteinases", "start": 113, "end": 138 }, { "text": "MMPs", "start": 140, "end": 144 }, {...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds r...	{ "entities": { "gene or gene product": [ { "text": "MMP1", "start": 564, "end": 568 } ], "disease or phenotypic feature": [ { "text": "DDD", "start": 30, "end": 33 }, { "text": "DDD", "start": 617, "end"...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. Penicillin model is a widely used experimental model for epilepsy research. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brai...	{ "entities": { "chemical entity": [ { "text": "penicillin", "start": 38, "end": 48 }, { "text": "Penicillin", "start": 101, "end": 111 }, { "text": "penicillin", "start": 250, "end": 260 }, { ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
terms of spectral densities between three investigated episodes (basal activity, latent period and epileptiform activity). Our results may help to analyze novel data obtained using similar experimental models and the simple analysis method described here can be used in similar studies to investigate the basic neuronal ...	{ "entities": { "disease or phenotypic feature": [ { "text": "epileptiform activity", "start": 99, "end": 120 }, { "text": "epilepsies", "start": 369, "end": 379 } ] } }	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin re...	{ "entities": { "disease or phenotypic feature": [ { "text": "non-autoimmune hyperthyroidism", "start": 31, "end": 61 }, { "text": "non-autoimmune hyperthyroidism", "start": 220, "end": 250 }, { "text": "NAH", "start": 2...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
consistently found in all affected individuals. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. In addition, the shortening of the middle phalanges ...	{ "entities": { "disease or phenotypic feature": [ { "text": "Ventriculomegaly", "start": 61, "end": 77 }, { "text": "NAH", "start": 215, "end": 218 } ], "gene or gene product": [ { "text": "TSHR", "start": 244, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate va...	{ "entities": { "gene or gene product": [ { "text": "renin", "start": 105, "end": 110 }, { "text": "angiotensin", "start": 111, "end": 122 }, { "text": "renin", "start": 195, "end": 200 }, { "...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.0...	{ "entities": { "gene or gene product": [ { "text": "ATR1", "start": 463, "end": 467 } ], "disease or phenotypic feature": [ { "text": "syncope", "start": 330, "end": 337 }, { "text": "hypotension", "start": 496,...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identifi...	{ "entities": { "gene or gene product": [ { "text": "meckelin", "start": 25, "end": 33 }, { "text": "MKS3", "start": 35, "end": 39 }, { "text": "TMEM67", "start": 40, "end": 46 }, { "text": "N...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder ...	{ "entities": { "gene or gene product": [ { "text": "MKS3", "start": 419, "end": 423 }, { "text": "TMEM67", "start": 424, "end": 430 }, { "text": "MKS3", "start": 607, "end": 611 }, { "text": ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the...	{ "entities": { "gene or gene product": [ { "text": "Serotonin transporter", "start": 0, "end": 21 }, { "text": "5-HTTLPR", "start": 47, "end": 55 }, { "text": "serotonin transporter", "start": 321, "end": 342 ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure. BACKGROUND: To review evidence-based treatment options in patients with cerebral edema complicating fulminant hepatic failure (FHF) and discuss the potential applications of hypother...	{ "entities": { "disease or phenotypic feature": [ { "text": "hypothermia", "start": 10, "end": 21 }, { "text": "cerebral edema", "start": 50, "end": 64 }, { "text": "intracranial hypertension", "start": 69, "end...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
recovery of neurological and hepatic functions. CONCLUSION: In patients with FHF and cerebral edema from acetaminophen overdose, prolonged therapeutic hypothermia could potentially be used as a life saving therapy and a bridge to hepatic and neurological recovery. A clinical trial of hypothermia in patients with this c...	{ "entities": { "disease or phenotypic feature": [ { "text": "FHF", "start": 77, "end": 80 }, { "text": "cerebral edema", "start": 85, "end": 99 }, { "text": "hypothermia", "start": 151, "end": 162 }, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type. Human 8-oxoguanine DNA glycosylase 1 (hOGG1) has a major role in the repair of 8-hydroxyguanine, a major promutagenic DNA lesion. The genetic polymorphism rs1052133, which leads to substitution of the amino acid at codon 326 from Ser to Cys, sho...	{ "entities": { "gene or gene product": [ { "text": "hOGG1", "start": 0, "end": 5 }, { "text": "8-oxoguanine DNA glycosylase 1", "start": 81, "end": 111 }, { "text": "hOGG1", "start": 113, "end": 118 }, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
CI=0.98-1.77). A meta-analysis of previous and our present study revealed that this polymorphism is positively associated with adenocarcinoma, although suggestive associations were also found for squamous- and small-cell lung cancers. These results indicate that rs1052133 contributes to the risk of adenocarcinoma of lu...	{ "entities": { "sequence variant": [ { "text": "rs1052133", "start": 263, "end": 272 } ], "disease or phenotypic feature": [ { "text": "adenocarcinoma", "start": 127, "end": 141 }, { "text": "squamous- and small-cell lu...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population. BACKGROUND: Mice with defects in the Klotho gene exhibit multiple aging phenotypes including arteriosclerosis. We hypothesised that the G-395A polymorphis...	{ "entities": { "gene or gene product": [ { "text": "Klotho", "start": 77, "end": 83 }, { "text": "Klotho", "start": 203, "end": 209 }, { "text": "Klotho", "start": 358, "end": 364 }, { "text"...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
indicated that the odds ratio for EH in the -395A allele carriers as compared with the control group was 0.593 (P=0.024) after adjusting for current traditional risk factors. The dual-luciferase reporter assay revealed that the -395A carrier of a 498-bp DNA fragment (containing the G-395A site) upstream of the Klotho g...	{ "entities": { "gene or gene product": [ { "text": "Klotho", "start": 312, "end": 318 }, { "text": "Klotho", "start": 438, "end": 444 } ], "disease or phenotypic feature": [ { "text": "EH", "start": 34, ...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
Chemokine CCL2 and its receptor CCR2 are increased in the hippocampus following pilocarpine-induced status epilepticus. BACKGROUND: Neuroinflammation occurs after seizures and is implicated in epileptogenesis. CCR2 is a chemokine receptor for CCL2 and their interaction mediates monocyte infiltration in the neuroinflamm...	{ "entities": { "gene or gene product": [ { "text": "CCL2", "start": 10, "end": 14 }, { "text": "CCR2", "start": 32, "end": 36 }, { "text": "CCR2", "start": 210, "end": 214 }, { "text": "chemo...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...
experienced SE exhibited CCR2-labeling in populations of hypertrophied astrocytes, especially in CA1 and dentate gyrus. These CCR2+ astroctytes were not observed in control rats. Examination of CCL2 expression showed that it was elevated in the hippocampus following SE. CONCLUSION: The data show that CCR2 and CCL2 are ...	{ "entities": { "gene or gene product": [ { "text": "CCR2", "start": 25, "end": 29 }, { "text": "CCR2", "start": 126, "end": 130 }, { "text": "CCL2", "start": 194, "end": 198 }, { "text": "CCR...	{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of t...

{ "entities": { "gene or gene product": [ { "text": "Hepatocyte nuclear factor-6", "start": 0, "end": 27 }, { "text": "insulin", "start": 140, "end": 147 }, { "text": "hepatocyte nuclear factor (HNF)-6", "start": 184, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of ...

{ "entities": { "gene or gene product": [ { "text": "insulin", "start": 395, "end": 402 }, { "text": "C-peptide", "start": 406, "end": 415 }, { "text": "HNF-6", "start": 467, "end": 472 }, { "...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. We have identified a type II Ca2+-dependent lectin displaying mannose-binding specificity, exclusively expressed by Langerhans cells (LC), and named Langerin. LC are uniquely characteri...

{ "entities": { "gene or gene product": [ { "text": "Langerin", "start": 0, "end": 8 }, { "text": "C-type lectin", "start": 18, "end": 31 }, { "text": "type II Ca2+-dependent lectin", "start": 156, "end": 185 ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with...

{ "entities": { "gene or gene product": [ { "text": "BRCA1", "start": 25, "end": 30 }, { "text": "BRCA1", "start": 147, "end": 152 }, { "text": "BRCA2", "start": 157, "end": 162 }, { "text": "...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities - 5382insC, C61G, and 4153delA - accounted for 51%, ...

{ "entities": { "gene or gene product": [ { "text": "BRCA2", "start": 0, "end": 5 } ], "disease or phenotypic feature": [ { "text": "breast-ovarian cancer syndrome", "start": 23, "end": 53 }, { "text": "BRCA1 abnormaliti...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Apomorphine: an underutilized therapy for Parkinson's disease. Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administrat...

{ "entities": { "chemical entity": [ { "text": "Apomorphine", "start": 0, "end": 11 }, { "text": "Apomorphine", "start": 63, "end": 74 }, { "text": "dopaminergic drug", "start": 89, "end": 106 }, { ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

associated with marked reductions of preexisting levodopa-induced dyskinesias. The main side effects of subcutaneous apomorphine treatment are related to cutaneous tolerability problems, whereas sedation and psychiatric complications play a lesser role. Given the marked degree of efficacy of subcutaneous apomorphine tr...

{ "entities": { "chemical entity": [ { "text": "levodopa", "start": 49, "end": 57 }, { "text": "apomorphine", "start": 117, "end": 128 }, { "text": "apomorphine", "start": 306, "end": 317 } ], "dise...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational...

{ "entities": { "gene or gene product": [ { "text": "Rab6c", "start": 0, "end": 5 }, { "text": "rab", "start": 27, "end": 30 }, { "text": "Rab6", "start": 101, "end": 105 }, { "text": "Rab6c",...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramaticall...

{ "entities": { "disease or phenotypic feature": [ { "text": "End-stage renal disease", "start": 0, "end": 23 }, { "text": "ESRD", "start": 25, "end": 29 }, { "text": "nephrotoxic", "start": 239, "end": 250 ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

ESRD 9.5%). Compared with control patients, CRF and ESRD patients had higher preoperative serum creatinine levels, a greater percentage of patients with hepatorenal syndrome, higher percentage requirement for dialysis in the first 3 months postoperatively, and a higher 1-year serum creatinine. Multivariate stepwise log...

{ "entities": { "disease or phenotypic feature": [ { "text": "ESRD", "start": 0, "end": 4 }, { "text": "CRF", "start": 44, "end": 47 }, { "text": "ESRD", "start": 52, "end": 56 }, { "text": "h...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

patients treated with dialysis only. Patients who develop ESRD have a higher preoperative and 1-year serum creatinine and are more likely to have hepatorenal syndrome. However, an increase of serum creatinine at various times postoperatively is more predictive of the development of CRF or ESRD. New strategies for long-...

{ "entities": { "disease or phenotypic feature": [ { "text": "ESRD", "start": 58, "end": 62 }, { "text": "hepatorenal syndrome", "start": 146, "end": 166 }, { "text": "CRF", "start": 283, "end": 286 }, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a f...

{ "entities": { "sequence variant": [ { "text": "D90A", "start": 0, "end": 4 }, { "text": "D90A", "start": 362, "end": 366 }, { "text": "D90A", "start": 585, "end": 589 }, { "text": "D90A", ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

arose subsequently only c.63 generations ago (alpha 0.878). Recombination has reduced the region shared by recessive kindreds to 97-265 kb around SOD1, excluding all neighbouring genes. We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susce...

{ "entities": { "sequence variant": [ { "text": "D90A", "start": 259, "end": 263 } ], "gene or gene product": [ { "text": "SOD1", "start": 146, "end": 150 }, { "text": "SOD1", "start": 264, "end": 268 ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In ...

{ "entities": { "disease or phenotypic feature": [ { "text": "metachromatic leukodystrophy", "start": 11, "end": 39 }, { "text": "metachromatic leukodystrophy", "start": 159, "end": 187 }, { "text": "MLD", "start": 189, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated childre...

{ "entities": { "disease or phenotypic feature": [ { "text": "deafness", "start": 17, "end": 25 }, { "text": "non-syndromic autosomal recessive deafness", "start": 117, "end": 159 }, { "text": "NSARD", "start": 161, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

g.3697G>A [p.Arg127His], g.3774G>A [p.Val153Ile], and g.3795G>A [p.Gly160Ser] were identified. With the exception of g.3318-34C>T and g.3352delG, all variants occurred heterozygously. For most of the variants identified in the Kenyan and Sudanese study population, a causative association with NSARD appears to be unlike...

{ "entities": { "disease or phenotypic feature": [ { "text": "NSARD", "start": 294, "end": 299 }, { "text": "deafness", "start": 362, "end": 370 }, { "text": "deafness", "start": 522, "end": 530 } ], ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gen...

{ "entities": { "gene or gene product": [ { "text": "PCSK9", "start": 17, "end": 22 }, { "text": "Proprotein convertase subtilisin/kexin type 9", "start": 96, "end": 141 }, { "text": "PCSK9", "start": 143, "end":...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes accoun...

{ "entities": { "disease or phenotypic feature": [ { "text": "Desmin-related myopathy", "start": 0, "end": 23 }, { "text": "Desmin-related myopathies", "start": 110, "end": 135 }, { "text": "DRMs", "start": 137, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

comparative reevaluation showed that MB-DRM and SEPN-RM share identical clinical features. Therefore, we propose that MB-DRM should be categorized as SEPN-RM. These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosol...

{ "entities": { "disease or phenotypic feature": [ { "text": "DRM", "start": 40, "end": 43 }, { "text": "SEPN-RM", "start": 48, "end": 55 }, { "text": "DRM", "start": 121, "end": 124 }, { "tex...

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Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes. DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chro...

{ "entities": { "gene or gene product": [ { "text": "HIRA", "start": 34, "end": 38 }, { "text": "Tuple1", "start": 39, "end": 45 }, { "text": "HIRA", "start": 675, "end": 679 }, { "text": "Tup...

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transcritpion in DGS/VCFS.

{ "entities": { "disease or phenotypic feature": [ { "text": "DGS", "start": 17, "end": 20 }, { "text": "VCFS", "start": 21, "end": 25 } ] } }

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to...

{ "entities": { "disease or phenotypic feature": [ { "text": "left ventricular systolic and diastolic dysfunction", "start": 18, "end": 69 }, { "text": "cardiomyopathy", "start": 143, "end": 157 }, { "text": "myocardial dysfunct...

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Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors t...

{ "entities": { "gene or gene product": [ { "text": "cyclooxygenase-2", "start": 15, "end": 31 }, { "text": "cyclooxygenase (COX)-2", "start": 276, "end": 298 }, { "text": "COX-2", "start": 444, "end": 449 ...

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incidences of thrombotic events were similar for valdecoxib, NSAIDs, and placebo. The risk of serious thrombotic events was also similar for each valdecoxib dose. Thrombotic risk was consistently higher for users of aspirin users than nonusers of aspirin (placebo, 1.4% vs. 0%; valdecoxib, 1.7% vs. 0.2%; NSAIDs, 1.9% vs...

{ "entities": { "chemical entity": [ { "text": "valdecoxib", "start": 49, "end": 59 }, { "text": "NSAIDs", "start": 61, "end": 67 }, { "text": "valdecoxib", "start": 146, "end": 156 }, { "text...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal...

{ "entities": { "gene or gene product": [ { "text": "WFS1", "start": 26, "end": 30 }, { "text": "WFS1", "start": 390, "end": 394 }, { "text": "WFS1", "start": 559, "end": 563 } ], "sequence variant"...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach. Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in no...

{ "entities": { "disease or phenotypic feature": [ { "text": "migraine", "start": 73, "end": 81 }, { "text": "Migraine", "start": 112, "end": 120 }, { "text": "headache disorder", "start": 154, "end": 171 }...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

application of this high-throughput genotyping method, negative results from the two-stage DNA pooling design used to screen loci within the TPH, AADC and MAOA genes did not support their role in migraine susceptibility.

{ "entities": { "disease or phenotypic feature": [ { "text": "migraine", "start": 196, "end": 204 } ], "gene or gene product": [ { "text": "TPH", "start": 141, "end": 144 }, { "text": "AADC", "start": 146, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was...

{ "entities": { "chemical entity": [ { "text": "5-Fluorouracil", "start": 0, "end": 14 }, { "text": "alpha-fluoro-beta-alanine", "start": 41, "end": 66 }, { "text": "5-fluorouracil", "start": 123, "end": 137 ...

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the degradative of 5-FU into FBAL. The serum FBAL concentration subsequently decreased to 352 ng/ml, the same as the value measured on the first day of S-1 administration. Thereafter, no cardiac symptoms were observed. The patient achieved a partial response 6 months after the initiation of the S-1 treatment. The exper...

{ "entities": { "chemical entity": [ { "text": "5-FU", "start": 19, "end": 23 }, { "text": "FBAL", "start": 29, "end": 33 }, { "text": "FBAL", "start": 45, "end": 49 }, { "text": "S-1", ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Pilocarpine seizures cause age-dependent impairment in auditory location discrimination. Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in audito...

{ "entities": { "chemical entity": [ { "text": "Pilocarpine", "start": 0, "end": 11 }, { "text": "pilocarpine", "start": 585, "end": 596 }, { "text": "Pilocarpine", "start": 612, "end": 623 } ], "di...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Status epilepticus in rat causes an age-dependent, long-term impairment in auditory discrimination. This impairment may explain one cause of impaired auditory location discrimination in humans.

{ "entities": { "disease or phenotypic feature": [ { "text": "Status epilepticus", "start": 0, "end": 18 }, { "text": "impairment in auditory discrimination", "start": 61, "end": 98 }, { "text": "impaired auditory location discr...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk ...

{ "entities": { "sequence variant": [ { "text": "-1123 G>C", "start": 27, "end": 36 }, { "text": "+2740 A>G", "start": 40, "end": 49 }, { "text": "+1858C>T", "start": 250, "end": 258 }, { "tex...

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In the Czechs, all three SNPs were in a tight linkage disequlibrium, while in the Azeri, the linkage disequlibrium was limited to between the promoter and 3'-UTR polymorphism, D'(-1123, +2740)=0.99, r(2)=0.72. Haplotype reconstruction via the expectation-maximization algorithm showed in both populations that only the h...

{ "entities": { "sequence variant": [ { "text": "(W) allele at codon 620", "start": 350, "end": 373 }, { "text": "(R) allele at codon 620", "start": 552, "end": 575 } ], "gene or gene product": [ { "text": "PTPN22", ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to ...

{ "entities": { "sequence variant": [ { "text": "C-to-T substitution at -31", "start": 18, "end": 44 }, { "text": "-31T/C", "start": 258, "end": 264 }, { "text": "-511C/T", "start": 269, "end": 276 }, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

both the cases and controls (R (2)=0.94). Neither IL1B-31, -511 nor FAS-670 polymorphisms showed significantly different risks of gastric adenocarcinoma. Though FAS-670 polymorphisms did not show any significant difference, the proportion of subjects with IL1B-31TT (or IL1B-511CC) increased according to stage (trend P=...

{ "entities": { "sequence variant": [ { "text": "-31TT", "start": 260, "end": 265 }, { "text": "-511CC", "start": 274, "end": 280 }, { "text": "-31TT", "start": 422, "end": 427 }, { "text": "-...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been repor...

{ "entities": { "chemical entity": [ { "text": "Chloroacetaldehyde", "start": 0, "end": 18 }, { "text": "sulfhydryl reagent", "start": 24, "end": 42 }, { "text": "thiol", "start": 65, "end": 70 }, { ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

CAA with thiol donors, could also attenuate effects of CAA on necrosis markers, thiol depletion and cysteine protease inhibition in living cells. Thus, CAA directly reacts with cellular protein and non-protein thiols, mediating its toxicity on hRPTEC. This effect can be reduced by acidification. Therefore, urinary acid...

{ "entities": { "chemical entity": [ { "text": "CAA", "start": 0, "end": 3 }, { "text": "thiol", "start": 9, "end": 14 }, { "text": "CAA", "start": 55, "end": 58 }, { "text": "thiol", ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Delayed institution of hypertension during focal cerebral ischemia: effect on brain edema. The effect of induced hypertension instituted after a 2-h delay following middle cerebral artery occlusion (MCAO) on brain edema formation and histochemical injury was studied. Under isoflurane anesthesia, the MCA of 14 spontaneo...

{ "entities": { "disease or phenotypic feature": [ { "text": "hypertension", "start": 23, "end": 35 }, { "text": "cerebral ischemia", "start": 49, "end": 66 }, { "text": "brain edema", "start": 78, "end": 89 ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

than 0.05). The area of histochemical injury (as a percent of the cross-sectional area of the hemisphere) was less in the hypertensive group (33 +/- 3% vs 21 +/- 2%, P less than 0.05). The data indicate that phenylephrine-induced hypertension instituted 2 h after MCAO does not aggravate edema in the ischemic core, that...

{ "entities": { "disease or phenotypic feature": [ { "text": "hypertensive", "start": 122, "end": 134 }, { "text": "hypertension", "start": 230, "end": 242 }, { "text": "MCAO", "start": 264, "end": 268 }, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was ...

{ "entities": { "gene or gene product": [ { "text": "phosphatidylethanolamine N-methyltransferase", "start": 4, "end": 48 }, { "text": "phosphatidylethanolamine N-methyltransferase", "start": 332, "end": 376 }, { "text": "PEMT",...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

carriers of Val175Met variant than in homozygotes of wild type PEMT. CONCLUSIONS: Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NA...

{ "entities": { "gene or gene product": [ { "text": "PEMT", "start": 63, "end": 67 }, { "text": "PEMT", "start": 103, "end": 107 }, { "text": "PEMT", "start": 286, "end": 290 } ], "sequence variant"...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomod...

{ "entities": { "gene or gene product": [ { "text": "Tenomodulin", "start": 0, "end": 11 }, { "text": "tenomodulin", "start": 313, "end": 324 }, { "text": "TNMD", "start": 326, "end": 330 } ], "dise...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

higher 2-hour plasma glucose levels; the hazard ratios were 2.192 (p = 0.025) for rs2073162-A, 2.191 (p = 0.027) for rs2073163-C, and 1.998 (p = 0.054) for rs1155974-T. These results suggest that TNMD polymorphisms are associated with adiposity and also with glucose metabolism and conversion from IGT to T2D in men.

{ "entities": { "gene or gene product": [ { "text": "TNMD", "start": 196, "end": 200 } ], "disease or phenotypic feature": [ { "text": "adiposity", "start": 235, "end": 244 }, { "text": "IGT", "start": 298, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of t...

{ "entities": { "organism taxon": [ { "text": "patients", "start": 97, "end": 105 }, { "text": "bacteria", "start": 343, "end": 351 }, { "text": "bacteria", "start": 446, "end": 454 }, { "text...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

antibodies (gASCA) IgG, anti-laminaribioside antibodies (ALCA) IgG, anti-chitobioside antibodies (ACCA) IgA, anti-mannobioside antibodies (AMCA) IgG and outer membrane porin (Omp) IgA and were genotyped for variants in NOD2/CARD15, TUCAN/CARDINAL/CARD8, NOD1/CARD4, TLR4, TLR1, TLR2 and TLR6. RESULTS: When compared with...

{ "entities": { "organism taxon": [ { "text": "patients", "start": 337, "end": 345 }, { "text": "patients", "start": 435, "end": 443 }, { "text": "patients", "start": 739, "end": 747 }, { "tex...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

(20.5% versus 34.6%, p = 0.009), respectively. CONCLUSION: Variants in innate immune receptor genes were found to influence antibody formation against microbial epitopes. In this respect, it is intriguing that an opposite effect of CARD15 and TLR4 variants was observed. These findings may contribute to an understanding...

{ "entities": { "disease or phenotypic feature": [ { "text": "IBD", "start": 372, "end": 375 } ], "gene or gene product": [ { "text": "innate immune receptor", "start": 71, "end": 93 }, { "text": "CARD15", "start...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide pos...

{ "entities": { "gene or gene product": [ { "text": "FGFR3", "start": 63, "end": 68 }, { "text": "fibroblast growth factor receptor 3", "start": 348, "end": 383 }, { "text": "FGFR3", "start": 385, "end": 390 ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

laboratories.

{ "entities": {} }

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Genetic investigation of four meiotic genes in women with premature ovarian failure. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure ...

{ "entities": { "organism taxon": [ { "text": "women", "start": 47, "end": 52 }, { "text": "S. cerevisiae", "start": 242, "end": 255 }, { "text": "patients", "start": 464, "end": 472 }, { "tex...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

composition of the protein (M200V). CONCLUSIONS: The symptoms of infertility observed in the DMC1 homozygote mutation carrier and in both patients with a heterozygous substitution in exon 2 of the MSH5 gene provide indirect evidence of the role of genes involved in meiotic recombination in the regulation of ovarian fun...

{ "entities": { "organism taxon": [ { "text": "patients", "start": 138, "end": 146 } ], "disease or phenotypic feature": [ { "text": "infertility", "start": 65, "end": 76 }, { "text": "POF", "start": 378, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymor...

{ "entities": { "gene or gene product": [ { "text": "IRF5", "start": 40, "end": 44 }, { "text": "Interferon regulatory factor 5", "start": 159, "end": 189 }, { "text": "IRF5", "start": 191, "end": 195 }, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis). When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, ...

{ "entities": { "gene or gene product": [ { "text": "IRF5", "start": 561, "end": 565 } ], "disease or phenotypic feature": [ { "text": "RA", "start": 189, "end": 191 }, { "text": "RA", "start": 428, "end"...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MM...

{ "entities": { "gene or gene product": [ { "text": "MMP1", "start": 51, "end": 55 }, { "text": "Matrix metalloproteinases", "start": 113, "end": 138 }, { "text": "MMPs", "start": 140, "end": 144 }, {...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI = 1.01-2.24). Further age stratification showed significant genotypic as well as allelic association in the group of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033-2.529; allelic: p value = 0.033, odds r...

{ "entities": { "gene or gene product": [ { "text": "MMP1", "start": 564, "end": 568 } ], "disease or phenotypic feature": [ { "text": "DDD", "start": 30, "end": 33 }, { "text": "DDD", "start": 617, "end"...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. Penicillin model is a widely used experimental model for epilepsy research. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brai...

{ "entities": { "chemical entity": [ { "text": "penicillin", "start": 38, "end": 48 }, { "text": "Penicillin", "start": 101, "end": 111 }, { "text": "penicillin", "start": 250, "end": 260 }, { ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

terms of spectral densities between three investigated episodes (basal activity, latent period and epileptiform activity). Our results may help to analyze novel data obtained using similar experimental models and the simple analysis method described here can be used in similar studies to investigate the basic neuronal ...

{ "entities": { "disease or phenotypic feature": [ { "text": "epileptiform activity", "start": 99, "end": 120 }, { "text": "epilepsies", "start": 369, "end": 379 } ] } }

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin re...

{ "entities": { "disease or phenotypic feature": [ { "text": "non-autoimmune hyperthyroidism", "start": 31, "end": 61 }, { "text": "non-autoimmune hyperthyroidism", "start": 220, "end": 250 }, { "text": "NAH", "start": 2...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

consistently found in all affected individuals. CONCLUSIONS: Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation. In addition, the shortening of the middle phalanges ...

{ "entities": { "disease or phenotypic feature": [ { "text": "Ventriculomegaly", "start": 61, "end": 77 }, { "text": "NAH", "start": 215, "end": 218 } ], "gene or gene product": [ { "text": "TSHR", "start": 244, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate va...

{ "entities": { "gene or gene product": [ { "text": "renin", "start": 105, "end": 110 }, { "text": "angiotensin", "start": 111, "end": 122 }, { "text": "renin", "start": 195, "end": 200 }, { "...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

59.6+/-21,8, AC 79.9+/-22.7, CC 65.4+/-22.7 mmHg, P=0.007), (minimal DBP: AA 36.4+/-22.7, AC 52.3+/-22.9, CC 45.4+/-19.5 mmHg, P=0.007).AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59.7+/-24.6, AC 50.6+/-20.6, CC 46.0+/-13.2, P=0.0...

{ "entities": { "gene or gene product": [ { "text": "ATR1", "start": 463, "end": 467 } ], "disease or phenotypic feature": [ { "text": "syncope", "start": 330, "end": 337 }, { "text": "hypotension", "start": 496,...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identifi...

{ "entities": { "gene or gene product": [ { "text": "meckelin", "start": 25, "end": 33 }, { "text": "MKS3", "start": 35, "end": 39 }, { "text": "TMEM67", "start": 40, "end": 46 }, { "text": "N...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder ...

{ "entities": { "gene or gene product": [ { "text": "MKS3", "start": 419, "end": 423 }, { "text": "TMEM67", "start": 424, "end": 430 }, { "text": "MKS3", "start": 607, "end": 611 }, { "text": ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the...

{ "entities": { "gene or gene product": [ { "text": "Serotonin transporter", "start": 0, "end": 21 }, { "text": "5-HTTLPR", "start": 47, "end": 55 }, { "text": "serotonin transporter", "start": 321, "end": 342 ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure. BACKGROUND: To review evidence-based treatment options in patients with cerebral edema complicating fulminant hepatic failure (FHF) and discuss the potential applications of hypother...

{ "entities": { "disease or phenotypic feature": [ { "text": "hypothermia", "start": 10, "end": 21 }, { "text": "cerebral edema", "start": 50, "end": 64 }, { "text": "intracranial hypertension", "start": 69, "end...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

recovery of neurological and hepatic functions. CONCLUSION: In patients with FHF and cerebral edema from acetaminophen overdose, prolonged therapeutic hypothermia could potentially be used as a life saving therapy and a bridge to hepatic and neurological recovery. A clinical trial of hypothermia in patients with this c...

{ "entities": { "disease or phenotypic feature": [ { "text": "FHF", "start": 77, "end": 80 }, { "text": "cerebral edema", "start": 85, "end": 99 }, { "text": "hypothermia", "start": 151, "end": 162 }, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type. Human 8-oxoguanine DNA glycosylase 1 (hOGG1) has a major role in the repair of 8-hydroxyguanine, a major promutagenic DNA lesion. The genetic polymorphism rs1052133, which leads to substitution of the amino acid at codon 326 from Ser to Cys, sho...

{ "entities": { "gene or gene product": [ { "text": "hOGG1", "start": 0, "end": 5 }, { "text": "8-oxoguanine DNA glycosylase 1", "start": 81, "end": 111 }, { "text": "hOGG1", "start": 113, "end": 118 }, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

CI=0.98-1.77). A meta-analysis of previous and our present study revealed that this polymorphism is positively associated with adenocarcinoma, although suggestive associations were also found for squamous- and small-cell lung cancers. These results indicate that rs1052133 contributes to the risk of adenocarcinoma of lu...

{ "entities": { "sequence variant": [ { "text": "rs1052133", "start": 263, "end": 272 } ], "disease or phenotypic feature": [ { "text": "adenocarcinoma", "start": 127, "end": 141 }, { "text": "squamous- and small-cell lu...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population. BACKGROUND: Mice with defects in the Klotho gene exhibit multiple aging phenotypes including arteriosclerosis. We hypothesised that the G-395A polymorphis...

{ "entities": { "gene or gene product": [ { "text": "Klotho", "start": 77, "end": 83 }, { "text": "Klotho", "start": 203, "end": 209 }, { "text": "Klotho", "start": 358, "end": 364 }, { "text"...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

indicated that the odds ratio for EH in the -395A allele carriers as compared with the control group was 0.593 (P=0.024) after adjusting for current traditional risk factors. The dual-luciferase reporter assay revealed that the -395A carrier of a 498-bp DNA fragment (containing the G-395A site) upstream of the Klotho g...

{ "entities": { "gene or gene product": [ { "text": "Klotho", "start": 312, "end": 318 }, { "text": "Klotho", "start": 438, "end": 444 } ], "disease or phenotypic feature": [ { "text": "EH", "start": 34, ...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

Chemokine CCL2 and its receptor CCR2 are increased in the hippocampus following pilocarpine-induced status epilepticus. BACKGROUND: Neuroinflammation occurs after seizures and is implicated in epileptogenesis. CCR2 is a chemokine receptor for CCL2 and their interaction mediates monocyte infiltration in the neuroinflamm...

{ "entities": { "gene or gene product": [ { "text": "CCL2", "start": 10, "end": 14 }, { "text": "CCR2", "start": 32, "end": 36 }, { "text": "CCR2", "start": 210, "end": 214 }, { "text": "chemo...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

experienced SE exhibited CCR2-labeling in populations of hypertrophied astrocytes, especially in CA1 and dentate gyrus. These CCR2+ astroctytes were not observed in control rats. Examination of CCL2 expression showed that it was elevated in the hippocampus following SE. CONCLUSION: The data show that CCR2 and CCL2 are ...

{ "entities": { "gene or gene product": [ { "text": "CCR2", "start": 25, "end": 29 }, { "text": "CCR2", "start": 126, "end": 130 }, { "text": "CCL2", "start": 194, "end": 198 }, { "text": "CCR...

{ "entities": [ { "label": "gene or gene product", "description": "Genes, proteins, mRNA and other gene products, including gene families (e.g. ABCA1); linked to NCBI Gene.", "description_source": "official" }, { "label": "chemical entity", "description": "Chemicals and drugs...

config	split	records
ner	train	751
ner	validation	191
ner	test	190
re	train	751
re	validation	191
re	test	190

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mneb
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biored

BioRED

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Calibrated Typed Decisions for Entity, Relation, and Event Extraction