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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... | {
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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 ... | {
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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... | {
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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... | {
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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%, ... | {
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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... | {
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{
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{
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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... | {
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{
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{
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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... | {
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{
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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... | {
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{
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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... | {
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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-... | {
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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... | {
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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... | {
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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 ... | {
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{
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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... | {
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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... | {
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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... | {
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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... | {
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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... | {
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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... | {
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{
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transcritpion in DGS/VCFS. | {
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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... | {
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"text": "left ventricular systolic and diastolic dysfunction",
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{
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{
"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... | {
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{
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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... | {
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{
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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... | {
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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... | {
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{
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{
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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. | {
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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... | {
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{
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{
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{
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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... | {
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{
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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... | {
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{
"text": "Pilocarpine",
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{
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{
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],
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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. | {
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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 ... | {
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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... | {
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... | {
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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 ... | {
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{
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... | {
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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=... | {
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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... | {
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"text": "Chloroacetaldehyde",
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{
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{
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{
... | {
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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... | {
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{
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{
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... | {
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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... | {
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{
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{
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... | {
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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... | {
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{
"text": "hypertensive",
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{
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{
"text": "MCAO",
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... | {
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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 ... | {
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"gene or gene product": [
{
"text": "phosphatidylethanolamine N-methyltransferase",
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},
{
"text": "phosphatidylethanolamine N-methyltransferase",
"start": 332,
"end": 376
},
{
"text": "PEMT",... | {
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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... | {
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"text": "PEMT",
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{
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{
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],
"sequence variant"... | {
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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... | {
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"gene or gene product": [
{
"text": "Tenomodulin",
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{
"text": "tenomodulin",
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{
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],
"dise... | {
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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. | {
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{
"text": "TNMD",
"start": 196,
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],
"disease or phenotypic feature": [
{
"text": "adiposity",
"start": 235,
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{
"text": "IGT",
"start": 298,
... | {
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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... | {
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{
"text": "patients",
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{
"text": "bacteria",
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{
"text": "bacteria",
"start": 446,
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{
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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... | {
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{
"text": "patients",
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{
"text": "patients",
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{
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(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... | {
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"disease or phenotypic feature": [
{
"text": "IBD",
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],
"gene or gene product": [
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"text": "innate immune receptor",
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{
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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... | {
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"gene or gene product": [
{
"text": "FGFR3",
"start": 63,
"end": 68
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{
"text": "fibroblast growth factor receptor 3",
"start": 348,
"end": 383
},
{
"text": "FGFR3",
"start": 385,
"end": 390
... | {
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{
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laboratories. | {
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} | {
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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 ... | {
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"organism taxon": [
{
"text": "women",
"start": 47,
"end": 52
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{
"text": "S. cerevisiae",
"start": 242,
"end": 255
},
{
"text": "patients",
"start": 464,
"end": 472
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{
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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... | {
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"organism taxon": [
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"text": "patients",
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],
"disease or phenotypic feature": [
{
"text": "infertility",
"start": 65,
"end": 76
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{
"text": "POF",
"start": 378,
... | {
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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... | {
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"gene or gene product": [
{
"text": "IRF5",
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{
"text": "Interferon regulatory factor 5",
"start": 159,
"end": 189
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{
"text": "IRF5",
"start": 191,
"end": 195
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... | {
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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, ... | {
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"text": "IRF5",
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],
"disease or phenotypic feature": [
{
"text": "RA",
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"end": 191
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{
"text": "RA",
"start": 428,
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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... | {
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"gene or gene product": [
{
"text": "MMP1",
"start": 51,
"end": 55
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{
"text": "Matrix metalloproteinases",
"start": 113,
"end": 138
},
{
"text": "MMPs",
"start": 140,
"end": 144
},
{... | {
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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... | {
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"text": "MMP1",
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],
"disease or phenotypic feature": [
{
"text": "DDD",
"start": 30,
"end": 33
},
{
"text": "DDD",
"start": 617,
"end"... | {
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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... | {
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"chemical entity": [
{
"text": "penicillin",
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"end": 48
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{
"text": "Penicillin",
"start": 101,
"end": 111
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{
"text": "penicillin",
"start": 250,
"end": 260
},
{
... | {
"entities": [
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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
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{
"text": "epilepsies",
"start": 369,
"end": 379
}
]
}
} | {
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{
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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... | {
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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",
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"end": 218
}
],
"gene or gene product": [
{
"text": "TSHR",
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... | {
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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... | {
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"gene or gene product": [
{
"text": "renin",
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{
"text": "angiotensin",
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{
"text": "renin",
"start": 195,
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{
"... | {
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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,
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],
"disease or phenotypic feature": [
{
"text": "syncope",
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{
"text": "hypotension",
"start": 496,... | {
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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... | {
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{
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"start": 40,
"end": 46
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{
"text": "N... | {
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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 ... | {
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{
"text": "MKS3",
"start": 419,
"end": 423
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{
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"end": 430
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{
"text": "MKS3",
"start": 607,
"end": 611
},
{
"text": ... | {
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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... | {
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"gene or gene product": [
{
"text": "Serotonin transporter",
"start": 0,
"end": 21
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{
"text": "5-HTTLPR",
"start": 47,
"end": 55
},
{
"text": "serotonin transporter",
"start": 321,
"end": 342
... | {
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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... | {
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{
"text": "hypothermia",
"start": 10,
"end": 21
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{
"text": "cerebral edema",
"start": 50,
"end": 64
},
{
"text": "intracranial hypertension",
"start": 69,
"end... | {
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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... | {
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"disease or phenotypic feature": [
{
"text": "FHF",
"start": 77,
"end": 80
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{
"text": "cerebral edema",
"start": 85,
"end": 99
},
{
"text": "hypothermia",
"start": 151,
"end": 162
},
... | {
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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... | {
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"text": "hOGG1",
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{
"text": "8-oxoguanine DNA glycosylase 1",
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{
"text": "hOGG1",
"start": 113,
"end": 118
},
... | {
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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... | {
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],
"disease or phenotypic feature": [
{
"text": "adenocarcinoma",
"start": 127,
"end": 141
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{
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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... | {
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"text": "Klotho",
"start": 77,
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{
"text": "Klotho",
"start": 203,
"end": 209
},
{
"text": "Klotho",
"start": 358,
"end": 364
},
{
"text"... | {
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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... | {
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{
"text": "Klotho",
"start": 312,
"end": 318
},
{
"text": "Klotho",
"start": 438,
"end": 444
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],
"disease or phenotypic feature": [
{
"text": "EH",
"start": 34,
... | {
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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... | {
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"gene or gene product": [
{
"text": "CCL2",
"start": 10,
"end": 14
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{
"text": "CCR2",
"start": 32,
"end": 36
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{
"text": "CCR2",
"start": 210,
"end": 214
},
{
"text": "chemo... | {
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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 ... | {
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"gene or gene product": [
{
"text": "CCR2",
"start": 25,
"end": 29
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{
"text": "CCR2",
"start": 126,
"end": 130
},
{
"text": "CCL2",
"start": 194,
"end": 198
},
{
"text": "CCR... | {
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Association of adipocyte genes with ASP expression: a microarray analysis of subcutaneous and omental adipose tissue in morbidly obese subjects. BACKGROUND: Prevalence of obesity is increasing to pandemic proportions. However, obese subjects differ in insulin resistance, adipokine production and co-morbidities. Based o... | {
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"gene or gene product": [
{
"text": "ASP",
"start": 36,
"end": 39
},
{
"text": "adipokine",
"start": 272,
"end": 281
},
{
"text": "Acylation Stimulating protein",
"start": 382,
"end": 411
},... | {
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demonstrated increased lipid related genes for storage (CD36, DGAT1, DGAT2, SCD1, FASN, and LPL), lipolysis (HSL, CES1, perilipin), fatty acid binding proteins (FABP1, FABP3) and adipocyte differentiation markers (CEBPalpha, CEBPbeta, PPARgamma). By contrast, oxidation related genes were decreased (AMPK, UCP1, CPT1, FA... | {
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"gene or gene product": [
{
"text": "CD36",
"start": 56,
"end": 60
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{
"text": "DGAT1",
"start": 62,
"end": 67
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{
"text": "DGAT2",
"start": 69,
"end": 74
},
{
"text": "SCD1"... | {
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Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain. BACKGROUND/AIMS: GH insensitivity and IGF deficiency may result from aberrations of the GH re... | {
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"disease or phenotypic feature": [
{
"text": "GH insensitivity syndrome",
"start": 9,
"end": 34
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{
"text": "insulin-like growth factor-I deficiency",
"start": 46,
"end": 85
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{
"text": "GH insensitivity",
... | {
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concentrations of GHBP. The presence of clinical and biochemical evidence of GH resistance is sufficient to consider the possibility of aberrations of the GHR, even in the presence of normal serum GHBP concentrations. | {
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"gene or gene product": [
{
"text": "GHBP",
"start": 18,
"end": 22
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{
"text": "GH",
"start": 77,
"end": 79
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{
"text": "GHR",
"start": 155,
"end": 158
},
{
"text": "GHBP",
... | {
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Association of DNA polymorphisms within the CYP11B2/CYP11B1 locus and postoperative hypertension risk in the patients with aldosterone-producing adenomas. OBJECTIVES: Hypertension often persists after adrenalectomy for primary aldosteronism. Traditional factors associated with postoperative hypertension were evaluated,... | {
"entities": {
"gene or gene product": [
{
"text": "CYP11B2",
"start": 44,
"end": 51
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{
"text": "CYP11B1",
"start": 52,
"end": 59
},
{
"text": "steroid synthesis genes",
"start": 480,
"end": 503
},
... | {
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APA (P = .006). Specifically, the rs4539 (AA) polymorphism was associated with persistent postoperative hypertension (P = .002). Multivariate logistic regression revealed the common haplotypes H1 (AGACT), H2 (AGAWT), and H3 (AGAWC) were associated with the persistent postoperative hypertension (P = .01, 0.03, 0.005 aft... | {
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"text": "CYP11B2/B1",
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"end": 749
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],
"disease or phenotypic feature": [
{
"text": "APA",
"start": 0,
"end": 3
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{
"text": "hypertension",
"start": 104,
... | {
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A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. PURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS: All individuals in the study underwent a ful... | {
"entities": {
"gene or gene product": [
{
"text": "GJA8",
"start": 20,
"end": 24
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{
"text": "gap junction protein, alpha 8",
"start": 675,
"end": 704
},
{
"text": "GJA8",
"start": 706,
"end": 710
},
... | {
"entities": [
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microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye. | {
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"disease or phenotypic feature": [
{
"text": "microcornea",
"start": 0,
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}
} | {
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The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy. INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is a complex disorder and genetically transmitted cardiac disease with a diverse clinical course. The objective of the present study was to examine the association ... | {
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"sequence variant": [
{
"text": "M235T",
"start": 4,
"end": 9
},
{
"text": "T704C",
"start": 327,
"end": 332
},
{
"text": "methionine to threonine substitution at codon 235",
"start": 862,
"end": ... | {
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the SHCM patients and controls. The polymorphism did not show any association with FHCM. CONCLUSION: Our results suggest that the T allele of the AGT gene is significantly associated with SHCM in a South Indian population from Andhra Pradesh. However, we did not find significant association of this polymorphism with FH... | {
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"gene or gene product": [
{
"text": "AGT",
"start": 146,
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],
"organism taxon": [
{
"text": "patients",
"start": 9,
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],
"disease or phenotypic feature": [
{
"text": "SHCM",
... | {
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Interleukin-17F gene polymorphism in patients with chronic immune thrombocytopenia. INTRODUCTION: IL-17F is a novel inflammatory cytokine and plays an important role in some autoimmune diseases. We investigated the association between chronic ITP and the frequency of the single-nucleotide polymorphism rs763780 (7488T/C... | {
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"gene or gene product": [
{
"text": "Interleukin-17F",
"start": 0,
"end": 15
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{
"text": "IL-17F",
"start": 98,
"end": 104
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{
"text": "inflammatory cytokine",
"start": 116,
"end": 137
},
... | {
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0%, P=0.04). CONCLUSION: These findings suggest that the IL-17F 7488 T allele is significantly associated with the development of chronic ITP, suggesting a role for IL-17F in the pathogenesis of chronic ITP. | {
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"text": "IL-17F",
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{
"text": "IL-17F",
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"text": "chronic ITP",
"start": 130,
... | {
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XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population. It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus (SLE) and that the X-ray repair cross-complementing (XRCC1) Arg399Gln (rs25487) polymorphism may contribute to DNA repair. W... | {
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"text": "XRCC1",
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{
"text": "X-ray repair cross-complementing",
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"end": 247
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{
"text": "XRCC1",
"start": 249,
"end": 254
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... | {
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meta-analysis of Taiwanese Han Chinese, Brazilian, and Polish populations showed that the Gln/Gln or Gln/Arg genotype and Gln allele were associated with SLE incidence. OR for the Gln/Gln or Gln/Arg versus Arg/Arg genotype was 1.440 (95% CI=1.15-1.80, p=0.0019) and OR for the Gln allele was 1.27 (95% CI=1.08-1.51, p=0.... | {
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"text": "Arg399Gln",
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{
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Defining an EPOR- regulated transcriptome for primary progenitors, including Tnfr-sf13c as a novel mediator of EPO- dependent erythroblast formation. Certain concepts concerning EPO/EPOR action modes have been challenged by in vivo studies: Bcl-x levels are elevated in maturing erythroblasts, but not in their progenito... | {
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"text": "EPOR",
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{
"text": "Tnfr-sf13c",
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{
"text": "EPO",
"start": 111,
"end": 114
},
{
"text": "... | {
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targets, further proved to comprise new EPOR/Jak2/Stat5 response genes (which are important for erythropoiesis during anemia). Among receptors, an atypical TNF-receptor Tnfr-sf13c was up-modulated >5-fold by EPO. Functionally, Tnfr-sf13c ligation proved to both promote proerythroblast survival, and substantially enh... | {
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{
"text": "EPOR",
"start": 40,
"end": 44
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{
"text": "Jak2",
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"end": 49
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{
"text": "Stat5",
"start": 50,
"end": 55
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{
"text": "TNF-re... | {
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Association of common genetic variants of HOMER1 gene with levodopa adverse effects in Parkinson's disease patients. Levodopa is the most effective symptomatic therapy for Parkinson's disease, but its chronic use could lead to chronic adverse outcomes, such as motor fluctuations, dyskinesia and visual hallucinations. H... | {
"entities": {
"gene or gene product": [
{
"text": "HOMER1",
"start": 42,
"end": 48
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{
"text": "HOMER1",
"start": 319,
"end": 325
},
{
"text": "HOMER1",
"start": 508,
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{
"text"... | {
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Midline B3 serotonin nerves in rat medulla are involved in hypotensive effect of methyldopa. Previous experiments in this laboratory have shown that microinjection of methyldopa onto the ventrolateral cells of the B3 serotonin neurons in the medulla elicits a hypotensive response mediated by a projection descending int... | {
"entities": {
"chemical entity": [
{
"text": "serotonin",
"start": 11,
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{
"text": "methyldopa",
"start": 81,
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{
"text": "methyldopa",
"start": 167,
"end": 177
},
{
"t... | {
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fall in blood pressure associated with a midline B3 serotonin methyldopa injection. It is concluded therefore that, unlike the ventrolateral B3 cells which mediate a methyldopa-induced hypotension via descending projections, the midline serotonin B3 cells in the medulla contribute to the hypotensive action of methyldop... | {
"entities": {
"chemical entity": [
{
"text": "serotonin",
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Endothelial NADPH oxidase 4 mediates vascular endothelial growth factor receptor 2-induced intravitreal neovascularization in a rat model of retinopathy of prematurity. PURPOSE: NADPH oxidase-generated reactive oxygen species (ROS) are implicated in angiogenesis. Isoforms of NADPH oxidase NOX1, NOX2, and NOX4 are repor... | {
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P18 was determined with western blots. STAT3 activation was determined as the ratio of phosphorylated STAT3 to total STAT3 with western blot analysis of retinal lysates from pups raised in RA or from the rat OIR model at P18. Semiquantitative assessment of the density of NOX4 colabeling with lectin-stained retinal ECs ... | {
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vascular ECs was greater in retinal cryosections and activated STAT3 was greater in retinal lysates when compared to the RA-raised pups. In cultured hRMVECs, knockdown of NOX4 by siRNA transfection inhibited VEGF-induced ROS generation. VEGF induced a physical interaction of phosphorylated-VEGFR2 and NOX4. Knockdown of... | {
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Disruption of the temporally regulated cloaca endodermal b-catenin signaling causes anorectal malformations. The cloaca is temporally formed and eventually divided by the urorectal septum (URS) during urogenital and anorectal organ development. Although congenital malformations, such as anorectal malformations (ARMs), ... | {
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reduced expression levels of differentiation markers, such as keratin 1 and filaggrin, in the perineal epithelia. The expression of bone morphogenetic protein (Bmp) genes, such as Bmp4 and Bmp7, was also ectopically induced in the epithelia of the URS in the b-catenin GOF mutants. The expression of the Msx2 gene and ph... | {
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Behavioral and neurochemical studies in mice pretreated with garcinielliptone FC in pilocarpine-induced seizures. Garcinielliptone FC (GFC) isolated from hexanic fraction seed extract of species Platonia insignis Mart. It is widely used in folk medicine to treat skin diseases in both humans and animals as well as the s... | {
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of 5.21%, 13.55% and 21.80%, respectively in mice hippocampus treated with GFC75 plus P400 when compared with seized mice. Hippocampus mice treated with GFC75 plus P400 showed an increase in AChE activity (63.30%) when compared with seized mice. The results indicate that GFC can exert anticonvulsant activity and reduce... | {
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Conversion to sirolimus ameliorates cyclosporine-induced nephropathy in the rat: focus on serum, urine, gene, and protein renal expression biomarkers. Protocols of conversion from cyclosporin A (CsA) to sirolimus (SRL) have been widely used in immunotherapy after transplantation to prevent CsA-induced nephropathy, but ... | {
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the traditional markers, but with changes in serums TGF- b and IL-7, TBARs clearance, and kidney TGF-b and mTOR. Conversion to SRL prevented CsA-induced renal damage evolution (absent/mild grade lesions), while NGAL (serum versus urine) seems to be a feasible biomarker of CsA replacement to SRL. | {
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Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium. Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE g... | {
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