J4YL19/biored_tokenized_1 · Datasets at Hugging Face

pmid stringlengths 7 8	passage stringlengths 355 3.29k	tokens sequence	ner_tags sequence
10491763	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...	[ "Hepatocyte", "nuclear", "factor", "-", "6", ":", "associations", "between", "genetic", "variability", "and", "type", "II", "diabetes", "and", "between", "genetic", "variability", "and", "estimates", "of", "insulin", "secretion", ".", "The", "transcription", "fact...	[ 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
10661407	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...	[ "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", ...	[ 1, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
10788334	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...	[ "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",...	[ 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 3...
11009181	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...	[ "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",...	[ 5, 0, 0, 0, 0, 0, 3, 4, 4, 0, 5, 0, 0, 0, 5, 6, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
11054569	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...	[ "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", ...	[ 1, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 0, 0, 0, 0, 1, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 11, 12, 12, 0, 0, 0, 0, 0, ...
11773892	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...	[ "End", "-", "stage", "renal", "disease", "(", "ESRD", ")", "after", "orthotopic", "liver", "transplantation", "(", "OLTX", ")", "using", "calcineurin", "-", "based", "immunotherapy", ":", "risk", "of", "development", "and", "treatment", ".", "BACKGROUND", ":",...	[ 3, 4, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 5, 0, 5, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
12442272	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...	[ "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", "th...	[ 9, 0, 1, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 7, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 3, 4, 0, 0, 0, 9...
1353340	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 ...	[ "Late", "-", "onset", "metachromatic", "leukodystrophy", ":", "molecular", "pathology", "in", "two", "siblings", ".", "We", "report", "on", "a", "new", "allele", "at", "the", "arylsulfatase", "A", "(", "ARSA", ")", "locus", "causing", "late", "-", "onset", ...	[ 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
14722929	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...	[ "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", ...	[ 0, 0, 0, 3, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
15099351	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...	[ "Mutations", "in", "the", "PCSK9", "gene", "in", "Norwegian", "subjects", "with", "autosomal", "dominant", "hypercholesterolemia", ".", "Proprotein", "convertase", "subtilisin", "/", "kexin", "type", "9", "(", "PCSK9", ")", "is", "at", "a", "locus", "for", "au...	[ 0, 0, 0, 1, 0, 0, 0, 0, 0, 3, 4, 4, 0, 1, 2, 2, 2, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0...
15122708	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...	[ "Desmin", "-", "related", "myopathy", "with", "Mallory", "body", "-", "like", "inclusions", "is", "caused", "by", "mutations", "of", "the", "selenoprotein", "N", "gene", ".", "Desmin", "-", "related", "myopathies", "(", "DRMs", ")", "are", "a", "heterogeneou...	[ 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0...
15177686	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...	[ "Altered", "replication", "timing", "of", "the", "HIRA", "/", "Tuple1", "locus", "in", "the", "DiGeorge", "and", "Velocardiofacial", "syndromes", ".", "DiGeorge", "and", "Velocardiofacial", "syndromes", "(", "DGS", "/", "VCFS", ")", "are", "endowed", "by", "a"...	[ 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 3, 4, 4, 4, 0, 3, 4, 4, 4, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
15188772	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...	[ "Severe", "reversible", "left", "ventricular", "systolic", "and", "diastolic", "dysfunction", "due", "to", "accidental", "iatrogenic", "epinephrine", "overdose", ".", "Catecholamine", "-", "induced", "cardiomyopathy", "due", "to", "chronic", "excess", "of", "endogenou...	[ 0, 0, 3, 4, 4, 4, 4, 4, 0, 0, 0, 0, 5, 0, 0, 5, 0, 0, 3, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0...
15266215	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...	[ "Effects", "of", "the", "cyclooxygenase", "-", "2", "specific", "inhibitor", "valdecoxib", "versus", "nonsteroidal", "antiinflammatory", "agents", "and", "placebo", "on", "cardiovascular", "thrombotic", "events", "in", "patients", "with", "arthritis", ".", "There", ...	[ 0, 0, 0, 1, 2, 2, 0, 0, 5, 0, 5, 6, 6, 0, 0, 0, 0, 3, 0, 0, 7, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 5, 6, 6, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 5...
16005363	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...	[ "Identification", "of", "a", "novel", "WFS1", "mutation", "(", "AFF344", "-", "345ins", ")", "in", "Japanese", "patients", "with", "Wolfram", "syndrome", ".", "Wolfram", "syndrome", "(", "WFS", ")", "is", "an", "autosomal", "recessive", "disorder", "characteri...	[ 0, 0, 0, 0, 1, 0, 0, 9, 10, 10, 0, 0, 0, 7, 0, 3, 4, 0, 3, 4, 0, 3, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 3, 4, 0, 0, 3, 4, 0, 3, 4, 0, 3, 4, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 3, 4, 0, 1, 0, ...
16200390	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...	[ "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", "signifi...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 0, 5, 6, 6, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0...
16369751	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...	[ "5", "-", "Fluorouracil", "cardiotoxicity", "induced", "by", "alpha", "-", "fluoro", "-", "beta", "-", "alanine", ".", "Cardiotoxicity", "is", "a", "rare", "complication", "occurring", "during", "5", "-", "fluorouracil", "(", "5", "-", "FU", ")", "treatment"...	[ 5, 6, 6, 3, 0, 0, 5, 6, 6, 6, 6, 6, 6, 0, 3, 0, 0, 0, 0, 0, 0, 5, 6, 6, 0, 5, 6, 6, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 5, 6, 6, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6...
16596970	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...	[ "Pilocarpine", "seizures", "cause", "age", "-", "dependent", "impairment", "in", "auditory", "location", "discrimination", ".", "Children", "who", "have", "status", "epilepticus", "have", "continuous", "or", "rapidly", "repeating", "seizures", "that", "may", "be", ...	[ 5, 3, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
17000021	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 ...	[ "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", ...	[ 0, 0, 0, 0, 0, 9, 10, 10, 10, 10, 0, 9, 10, 10, 10, 10, 0, 0, 0, 0, 0, 1, 0, 3, 4, 4, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 10, 0, 9, 0, 0, 0, 0, 0, ...
17006606	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 ...	[ "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", "...	[ 0, 0, 0, 9, 10, 10, 10, 10, 10, 10, 10, 10, 1, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 1, 9, 10, 10, 10, 0, 9, 10, 10, 10, 0, 0, 0, 0, 0, 0, 0, 0,...
17035713	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...	[ "Chloroacetaldehyde", "as", "a", "sulfhydryl", "reagent", ":", "the", "role", "of", "critical", "thiol", "groups", "in", "ifosfamide", "nephropathy", ".", "Chloroacetaldehyde", "(", "CAA", ")", "is", "a", "metabolite", "of", "the", "alkylating", "agent", "ifosfa...	[ 5, 0, 0, 5, 6, 0, 0, 0, 0, 0, 5, 0, 0, 5, 3, 0, 5, 0, 5, 0, 0, 0, 0, 0, 0, 5, 6, 6, 0, 5, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 3, 0, 0, 5, 0, 0, 0, 5, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
1711760	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...	[ "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", ...	[ 0, 0, 0, 3, 0, 0, 3, 4, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 3, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0...
17391797	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 ...	[ "The", "phosphatidylethanolamine", "N", "-", "methyltransferase", "gene", "V175M", "single", "nucleotide", "polymorphism", "confers", "the", "susceptibility", "to", "NASH", "in", "Japanese", "population", ".", "BACKGROUND", "/", "AIMS", ":", "The", "genetic", "predi...	[ 0, 1, 2, 2, 2, 0, 9, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 1, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 5, 0, 5, 0, 0...
17495183	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...	[ "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"...	[ 1, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0...
17595233	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...	[ "Mutations", "in", "pattern", "recognition", "receptor", "genes", "modulate", "seroreactivity", "to", "microbial", "antigens", "in", "patients", "with", "inflammatory", "bowel", "disease", ".", "BACKGROUND", "AND", "AIMS", ":", "A", "number", "of", "antibodies", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0...
17683901	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...	[ "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", "h...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 9, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10...
18166824	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 ...	[ "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", ","...	[ 0, 0, 0, 0, 0, 0, 0, 7, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 0, 0, 1, 0, 0, 1, 0, 0, 7, 8, 8, 0, 0, 1, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0...
18408250	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...	[ "A", "single", "nucleotide", "polymorphism", "in", "the", "IRF5", "promoter", "region", "is", "associated", "with", "susceptibility", "to", "rheumatoid", "arthritis", "in", "the", "Japanese", "population", ".", "OBJECTIVES", ":", "Interferon", "regulatory", "factor"...	[ 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0...
18439317	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...	[ "Association", "between", "promoter", "-", "1607", "polymorphism", "of", "MMP1", "and", "lumbar", "disc", "disease", "in", "Southern", "Chinese", ".", "BACKGROUND", ":", "Matrix", "metalloproteinases", "(", "MMPs", ")", "are", "involved", "in", "the", "degradati...	[ 0, 0, 0, 0, 0, 0, 0, 1, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 0, 0, 0, 1, 0, 0,...
18657397	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...	[ "Detailed", "spectral", "profile", "analysis", "of", "penicillin", "-", "induced", "epileptiform", "activity", "in", "anesthetized", "rats", ".", "Penicillin", "model", "is", "a", "widely", "used", "experimental", "model", "for", "epilepsy", "research", ".", "In",...	[ 0, 0, 0, 0, 0, 5, 0, 0, 3, 4, 0, 0, 7, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0...
18681856	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...	[ "Expanding", "clinical", "spectrum", "of", "non", "-", "autoimmune", "hyperthyroidism", "due", "to", "an", "activating", "germline", "mutation", ",", "p", ".", "M453T", ",", "in", "the", "thyrotropin", "receptor", "gene", ".", "OBJECTIVE", ":", "To", "describe...	[ 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 7, 0, 0, ...
19067809	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...	[ "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", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7...
19508969	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...	[ "Hypomorphic", "mutations", "in", "meckelin", "(", "MKS3", "/", "TMEM67", ")", "cause", "nephronophthisis", "with", "liver", "fibrosis", "(", "NPHP11", ")", ".", "BACKGROUND", ":", "Nephronophthisis", "(", "NPHP", ")", ",", "a", "rare", "recessive", "cystic", ...	[ 0, 0, 0, 1, 0, 1, 0, 1, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 3, 0, 0...
19521089	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...	[ "Serotonin", "transporter", "gene", "polymorphic", "element", "5", "-", "HTTLPR", "increases", "the", "risk", "of", "sporadic", "Parkinson", "'s", "disease", "in", "Italy", ".", "Parkinson", "'s", "disease", "(", "PD", ")", "is", "a", "neurodegenerative", "dis...	[ 1, 2, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 3, 4, 0, 3, 4, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 1, 0, 0, 0, 1, 2, 2...
19728177	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...	[ "Prolonged", "hypothermia", "as", "a", "bridge", "to", "recovery", "for", "cerebral", "edema", "and", "intracranial", "hypertension", "associated", "with", "fulminant", "hepatic", "failure", ".", "BACKGROUND", ":", "To", "review", "evidence", "-", "based", "treatm...	[ 0, 3, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 3, 4, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
19881468	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...	[ "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", ...	[ 1, 9, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 7, 1, 2, 2, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 10, 10, 0, 0, 0,...
20005218	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...	[ "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", ":", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 9, 10, 10, 0, 0, 0, 0, 0, 0, 0, 7, 1, 0, 0, 0, 0, 0, 0, ...
20034406	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...	[ "Chemokine", "CCL2", "and", "its", "receptor", "CCR2", "are", "increased", "in", "the", "hippocampus", "following", "pilocarpine", "-", "induced", "status", "epilepticus", ".", "BACKGROUND", ":", "Neuroinflammation", "occurs", "after", "seizures", "and", "is", "im...	[ 0, 1, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 5, 0, 0, 3, 4, 0, 0, 0, 3, 0, 0, 3, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 3...
20105310	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...	[ "Association", "of", "adipocyte", "genes", "with", "ASP", "expression", ":", "a", "microarray", "analysis", "of", "subcutaneous", "and", "omental", "adipose", "tissue", "in", "morbidly", "obese", "subjects", ".", "BACKGROUND", ":", "Prevalence", "of", "obesity", ...	[ 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 3, 4, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 1, 2, 2...
20606392	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...	[ "Atypical", "GH", "insensitivity", "syndrome", "and", "severe", "insulin", "-", "like", "growth", "factor", "-", "I", "deficiency", "resulting", "from", "compound", "heterozygous", "mutations", "of", "the", "GH", "receptor", ",", "including", "a", "novel", "fram...	[ 0, 3, 4, 4, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
20708777	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,...	[ "Association", "of", "DNA", "polymorphisms", "within", "the", "CYP11B2", "/", "CYP11B1", "locus", "and", "postoperative", "hypertension", "risk", "in", "the", "patients", "with", "aldosterone", "-", "producing", "adenomas", ".", "OBJECTIVES", ":", "Hypertension", ...	[ 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 3, 0, 0, 0, 7, 0, 3, 4, 4, 4, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
20806042	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...	[ "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"...	[ 0, 0, 0, 0, 1, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
21163864	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 ...	[ "The", "M235T", "polymorphism", "of", "the", "angiotensinogen", "gene", "in", "South", "Indian", "patients", "of", "hypertrophic", "cardiomyopathy", ".", "INTRODUCTION", ":", "Hypertrophic", "cardiomyopathy", "(", "HCM", ")", "is", "a", "complex", "disorder", "and...	[ 0, 9, 0, 0, 0, 1, 0, 0, 0, 0, 7, 0, 3, 4, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 3...

10491763

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...

[ "Hepatocyte", "nuclear", "factor", "-", "6", ":", "associations", "between", "genetic", "variability", "and", "type", "II", "diabetes", "and", "between", "genetic", "variability", "and", "estimates", "of", "insulin", "secretion", ".", "The", "transcription", "fact...

[ 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

10661407

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...

[ "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", ...

[ 1, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

10788334

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...

[ "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",...

[ 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 3...

11009181

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...

[ "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",...

[ 5, 0, 0, 0, 0, 0, 3, 4, 4, 0, 5, 0, 0, 0, 5, 6, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

11054569

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...

[ "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", ...

[ 1, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 0, 0, 0, 0, 1, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 11, 12, 12, 0, 0, 0, 0, 0, ...

11773892

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...

[ "End", "-", "stage", "renal", "disease", "(", "ESRD", ")", "after", "orthotopic", "liver", "transplantation", "(", "OLTX", ")", "using", "calcineurin", "-", "based", "immunotherapy", ":", "risk", "of", "development", "and", "treatment", ".", "BACKGROUND", ":",...

[ 3, 4, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 5, 0, 5, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

12442272

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...

[ "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", "th...

[ 9, 0, 1, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 7, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 3, 4, 0, 0, 0, 9...

1353340

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 ...

[ "Late", "-", "onset", "metachromatic", "leukodystrophy", ":", "molecular", "pathology", "in", "two", "siblings", ".", "We", "report", "on", "a", "new", "allele", "at", "the", "arylsulfatase", "A", "(", "ARSA", ")", "locus", "causing", "late", "-", "onset", ...

[ 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

14722929

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...

[ "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", ...

[ 0, 0, 0, 3, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

15099351

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...

[ "Mutations", "in", "the", "PCSK9", "gene", "in", "Norwegian", "subjects", "with", "autosomal", "dominant", "hypercholesterolemia", ".", "Proprotein", "convertase", "subtilisin", "/", "kexin", "type", "9", "(", "PCSK9", ")", "is", "at", "a", "locus", "for", "au...

[ 0, 0, 0, 1, 0, 0, 0, 0, 0, 3, 4, 4, 0, 1, 2, 2, 2, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0...

15122708

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...

[ "Desmin", "-", "related", "myopathy", "with", "Mallory", "body", "-", "like", "inclusions", "is", "caused", "by", "mutations", "of", "the", "selenoprotein", "N", "gene", ".", "Desmin", "-", "related", "myopathies", "(", "DRMs", ")", "are", "a", "heterogeneou...

[ 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0...

15177686

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...

[ "Altered", "replication", "timing", "of", "the", "HIRA", "/", "Tuple1", "locus", "in", "the", "DiGeorge", "and", "Velocardiofacial", "syndromes", ".", "DiGeorge", "and", "Velocardiofacial", "syndromes", "(", "DGS", "/", "VCFS", ")", "are", "endowed", "by", "a"...

[ 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 3, 4, 4, 4, 0, 3, 4, 4, 4, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

15188772

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...

[ "Severe", "reversible", "left", "ventricular", "systolic", "and", "diastolic", "dysfunction", "due", "to", "accidental", "iatrogenic", "epinephrine", "overdose", ".", "Catecholamine", "-", "induced", "cardiomyopathy", "due", "to", "chronic", "excess", "of", "endogenou...

[ 0, 0, 3, 4, 4, 4, 4, 4, 0, 0, 0, 0, 5, 0, 0, 5, 0, 0, 3, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0...

15266215

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...

[ "Effects", "of", "the", "cyclooxygenase", "-", "2", "specific", "inhibitor", "valdecoxib", "versus", "nonsteroidal", "antiinflammatory", "agents", "and", "placebo", "on", "cardiovascular", "thrombotic", "events", "in", "patients", "with", "arthritis", ".", "There", ...

[ 0, 0, 0, 1, 2, 2, 0, 0, 5, 0, 5, 6, 6, 0, 0, 0, 0, 3, 0, 0, 7, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 5, 6, 6, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 5...

16005363

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...

[ "Identification", "of", "a", "novel", "WFS1", "mutation", "(", "AFF344", "-", "345ins", ")", "in", "Japanese", "patients", "with", "Wolfram", "syndrome", ".", "Wolfram", "syndrome", "(", "WFS", ")", "is", "an", "autosomal", "recessive", "disorder", "characteri...

[ 0, 0, 0, 0, 1, 0, 0, 9, 10, 10, 0, 0, 0, 7, 0, 3, 4, 0, 3, 4, 0, 3, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 3, 4, 0, 0, 3, 4, 0, 3, 4, 0, 3, 4, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 3, 4, 0, 1, 0, ...

16200390

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...

[ "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", "signifi...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 0, 5, 6, 6, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0...

16369751

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...

[ "5", "-", "Fluorouracil", "cardiotoxicity", "induced", "by", "alpha", "-", "fluoro", "-", "beta", "-", "alanine", ".", "Cardiotoxicity", "is", "a", "rare", "complication", "occurring", "during", "5", "-", "fluorouracil", "(", "5", "-", "FU", ")", "treatment"...

[ 5, 6, 6, 3, 0, 0, 5, 6, 6, 6, 6, 6, 6, 0, 3, 0, 0, 0, 0, 0, 0, 5, 6, 6, 0, 5, 6, 6, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 5, 6, 6, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 6...

16596970

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...

[ "Pilocarpine", "seizures", "cause", "age", "-", "dependent", "impairment", "in", "auditory", "location", "discrimination", ".", "Children", "who", "have", "status", "epilepticus", "have", "continuous", "or", "rapidly", "repeating", "seizures", "that", "may", "be", ...

[ 5, 3, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

17000021

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 ...

[ "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", ...

[ 0, 0, 0, 0, 0, 9, 10, 10, 10, 10, 0, 9, 10, 10, 10, 10, 0, 0, 0, 0, 0, 1, 0, 3, 4, 4, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 10, 0, 9, 0, 0, 0, 0, 0, ...

17006606

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 ...

[ "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", "...

[ 0, 0, 0, 9, 10, 10, 10, 10, 10, 10, 10, 10, 1, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 1, 9, 10, 10, 10, 0, 9, 10, 10, 10, 0, 0, 0, 0, 0, 0, 0, 0,...

17035713

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...

[ "Chloroacetaldehyde", "as", "a", "sulfhydryl", "reagent", ":", "the", "role", "of", "critical", "thiol", "groups", "in", "ifosfamide", "nephropathy", ".", "Chloroacetaldehyde", "(", "CAA", ")", "is", "a", "metabolite", "of", "the", "alkylating", "agent", "ifosfa...

[ 5, 0, 0, 5, 6, 0, 0, 0, 0, 0, 5, 0, 0, 5, 3, 0, 5, 0, 5, 0, 0, 0, 0, 0, 0, 5, 6, 6, 0, 5, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 3, 0, 0, 5, 0, 0, 0, 5, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

1711760

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...

[ "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", ...

[ 0, 0, 0, 3, 0, 0, 3, 4, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 3, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0...

17391797

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 ...

[ "The", "phosphatidylethanolamine", "N", "-", "methyltransferase", "gene", "V175M", "single", "nucleotide", "polymorphism", "confers", "the", "susceptibility", "to", "NASH", "in", "Japanese", "population", ".", "BACKGROUND", "/", "AIMS", ":", "The", "genetic", "predi...

[ 0, 1, 2, 2, 2, 0, 9, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 1, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 5, 0, 5, 0, 0...

17495183

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...

[ "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"...

[ 1, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0...

17595233

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...

[ "Mutations", "in", "pattern", "recognition", "receptor", "genes", "modulate", "seroreactivity", "to", "microbial", "antigens", "in", "patients", "with", "inflammatory", "bowel", "disease", ".", "BACKGROUND", "AND", "AIMS", ":", "A", "number", "of", "antibodies", "...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0...

17683901

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...

[ "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", "h...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 9, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10...

18166824

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 ...

[ "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", ","...

[ 0, 0, 0, 0, 0, 0, 0, 7, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 0, 0, 1, 0, 0, 1, 0, 0, 7, 8, 8, 0, 0, 1, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0...

18408250

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...

[ "A", "single", "nucleotide", "polymorphism", "in", "the", "IRF5", "promoter", "region", "is", "associated", "with", "susceptibility", "to", "rheumatoid", "arthritis", "in", "the", "Japanese", "population", ".", "OBJECTIVES", ":", "Interferon", "regulatory", "factor"...

[ 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0...

18439317

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...

[ "Association", "between", "promoter", "-", "1607", "polymorphism", "of", "MMP1", "and", "lumbar", "disc", "disease", "in", "Southern", "Chinese", ".", "BACKGROUND", ":", "Matrix", "metalloproteinases", "(", "MMPs", ")", "are", "involved", "in", "the", "degradati...

[ 0, 0, 0, 0, 0, 0, 0, 1, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 10, 0, 0, 0, 1, 0, 0,...

18657397

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...

[ "Detailed", "spectral", "profile", "analysis", "of", "penicillin", "-", "induced", "epileptiform", "activity", "in", "anesthetized", "rats", ".", "Penicillin", "model", "is", "a", "widely", "used", "experimental", "model", "for", "epilepsy", "research", ".", "In",...

[ 0, 0, 0, 0, 0, 5, 0, 0, 3, 4, 0, 0, 7, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0...

18681856

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...

[ "Expanding", "clinical", "spectrum", "of", "non", "-", "autoimmune", "hyperthyroidism", "due", "to", "an", "activating", "germline", "mutation", ",", "p", ".", "M453T", ",", "in", "the", "thyrotropin", "receptor", "gene", ".", "OBJECTIVE", ":", "To", "describe...

[ 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 7, 0, 0, ...

19067809

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...

[ "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", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7...

19508969

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...

[ "Hypomorphic", "mutations", "in", "meckelin", "(", "MKS3", "/", "TMEM67", ")", "cause", "nephronophthisis", "with", "liver", "fibrosis", "(", "NPHP11", ")", ".", "BACKGROUND", ":", "Nephronophthisis", "(", "NPHP", ")", ",", "a", "rare", "recessive", "cystic", ...

[ 0, 0, 0, 1, 0, 1, 0, 1, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 3, 0, 0...

19521089

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...

[ "Serotonin", "transporter", "gene", "polymorphic", "element", "5", "-", "HTTLPR", "increases", "the", "risk", "of", "sporadic", "Parkinson", "'s", "disease", "in", "Italy", ".", "Parkinson", "'s", "disease", "(", "PD", ")", "is", "a", "neurodegenerative", "dis...

[ 1, 2, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 3, 4, 0, 3, 4, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 1, 0, 0, 0, 1, 2, 2...

19728177

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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19881468

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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20005218

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...

[ "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", ":", "...

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20034406

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...

[ "Chemokine", "CCL2", "and", "its", "receptor", "CCR2", "are", "increased", "in", "the", "hippocampus", "following", "pilocarpine", "-", "induced", "status", "epilepticus", ".", "BACKGROUND", ":", "Neuroinflammation", "occurs", "after", "seizures", "and", "is", "im...

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20105310

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...

[ "Association", "of", "adipocyte", "genes", "with", "ASP", "expression", ":", "a", "microarray", "analysis", "of", "subcutaneous", "and", "omental", "adipose", "tissue", "in", "morbidly", "obese", "subjects", ".", "BACKGROUND", ":", "Prevalence", "of", "obesity", ...

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20606392

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...

[ "Atypical", "GH", "insensitivity", "syndrome", "and", "severe", "insulin", "-", "like", "growth", "factor", "-", "I", "deficiency", "resulting", "from", "compound", "heterozygous", "mutations", "of", "the", "GH", "receptor", ",", "including", "a", "novel", "fram...

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20708777

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,...

[ "Association", "of", "DNA", "polymorphisms", "within", "the", "CYP11B2", "/", "CYP11B1", "locus", "and", "postoperative", "hypertension", "risk", "in", "the", "patients", "with", "aldosterone", "-", "producing", "adenomas", ".", "OBJECTIVES", ":", "Hypertension", ...

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20806042

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...

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21163864

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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Datasets:

J4YL19
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biored_tokenized_1

Dataset Card for "biored_tokenized_new"