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18235024
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. PURPOSE: Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduced visual acuity, color vision defects, and specific alterations of ERG responses that feature elevated scotopic b-wave a...
[ "Cone", "dystrophy", "with", "supernormal", "rod", "response", "is", "strictly", "associated", "with", "mutations", "in", "KCNV2", ".", "PURPOSE", ":", "Cone", "dystrophy", "with", "supernormal", "rod", "response", "(", "CDSRR", ")", "is", "a", "retinal", "dis...
[ "2", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "2", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "...
19779499
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family. Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. A major disease-c...
[ "Novel", "CACNA1S", "mutation", "causes", "autosomal", "dominant", "hypokalemic", "periodic", "paralysis", "in", "a", "South", "American", "family", ".", "Hypokalaemic", "periodic", "paralysis", "(", "HypoPP", ")", "is", "an", "autosomal", "dominant", "disorder", ...
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20801104
Association study of polymorphisms in the promoter region of DRD4 with schizophrenia, depression, and heroin addiction. This study investigated the possible association between three functional polymorphisms in the promoter region of the dopamine D4 receptor (DRD4) gene and schizophrenia, depression, and heroin addicti...
[ "Association", "study", "of", "polymorphisms", "in", "the", "promoter", "region", "of", "DRD4", "with", "schizophrenia", ",", "depression", ",", "and", "heroin", "addiction", ".", "This", "study", "investigated", "the", "possible", "association", "between", "three...
[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "2", "0", "2", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "0", "2", "0", "...
22836123
Late-onset scleroderma renal crisis induced by tacrolimus and prednisolone: a case report. Scleroderma renal crisis (SRC) is a rare complication of systemic sclerosis (SSc) but can be severe enough to require temporary or permanent renal replacement therapy. Moderate to high dose corticosteroid use is recognized as a m...
[ "Late-onset", "scleroderma", "renal", "crisis", "induced", "by", "tacrolimus", "and", "prednisolone", ":", "a", "case", "report", ".", "Scleroderma", "renal", "crisis", "(", "SRC", ")", "is", "a", "rare", "complication", "of", "systemic", "sclerosis", "(", "SS...
[ "0", "2", "2", "2", "0", "0", "3", "0", "3", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
27184800
Metallothionein-1 as a biomarker of altered redox metabolism in hepatocellular carcinoma cells exposed to sorafenib. BACKGROUND: Sorafenib, a kinase inhibitor active against various solid tumours, induces oxidative stress and ferroptosis, a new form of oxidative necrosis, in some cancer cells. Clinically-applicable bio...
[ "Metallothionein-1", "as", "a", "biomarker", "of", "altered", "redox", "metabolism", "in", "hepatocellular", "carcinoma", "cells", "exposed", "to", "sorafenib", ".", "BACKGROUND", ":", "Sorafenib", ",", "a", "kinase", "inhibitor", "active", "against", "various", "...
[ "1", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "3", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "2", "...
16001362
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Autosomal dominant cerebellar ataxia (ADCA) is a group of heterog...
[ "An", "autosomal", "dominant", "cerebellar", "ataxia", "linked", "to", "chromosome", "16q22.1", "is", "associated", "with", "a", "single-nucleotide", "substitution", "in", "the", "5", "'", "untranslated", "region", "of", "the", "gene", "encoding", "a", "protein", ...
[ "0", "2", "2", "2", "2", "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", "1", "1", "0", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "...
16158428
Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. Abnormalities of the posterior ...
[ "Delineation", "of", "the", "clinical", "phenotype", "associated", "with", "OPHN1", "mutations", "based", "on", "the", "clinical", "and", "neuropsychological", "evaluation", "of", "three", "families", ".", "Recent", "reports", "have", "demonstrated", "that", "mutati...
[ "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "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", "2", "2", "0", "0", "0", "0", "0", "...
16786513
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Deficiency of the muscle isozyme of glycogen phosphorylase is causative of McArdle disease or Glycogen storage disease type V (GSD-V), the most common autosomal recessive disorder of glycogen metabolism. The typical clinical presentation is chara...
[ "McArdle", "disease", ":", "the", "mutation", "spectrum", "of", "PYGM", "in", "a", "large", "Italian", "cohort", ".", "Deficiency", "of", "the", "muscle", "isozyme", "of", "glycogen", "phosphorylase", "is", "causative", "of", "McArdle", "disease", "or", "Glyco...
[ "2", "2", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "2", "2", "2", "0", "0", "0", "2", "2", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "2", "2", "2", "0", "3", "...
18672102
GATA4 mutations in 486 Chinese patients with congenital heart disease. Recent studies have reported germline mutations in GATA4 gene in some types of congenital heart disease (CHD). However, the prevalence of GATA4 mutations in CHD and the correlation between the GATA4 genotype and CHD phenotype have not been extensive...
[ "GATA4", "mutations", "in", "486", "Chinese", "patients", "with", "congenital", "heart", "disease", ".", "Recent", "studies", "have", "reported", "germline", "mutations", "in", "GATA4", "gene", "in", "some", "types", "of", "congenital", "heart", "disease", "(", ...
[ "1", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "2", "0", "0", "0", "0", "0", "...
28512644
Analysis of Serum Cytokines and Single-Nucleotide Polymorphisms of SOD1, SOD2, and CAT in Erysipelas Patients. Increased free radical production had been documented in group A (beta-hemolytic) streptococcus infection cases. Comparing 71 erysipelas patients to 55 age-matched healthy individuals, we sought for CAT, SOD1,...
[ "Analysis", "of", "Serum", "Cytokines", "and", "Single-Nucleotide", "Polymorphisms", "of", "SOD1", ",", "SOD2", ",", "and", "CAT", "in", "Erysipelas", "Patients", ".", "Increased", "free", "radical", "production", "had", "been", "documented", "in", "group", "A",...
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15122711
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago. It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (P...
[ "POLG", "mutations", "associated", "with", "Alpers", "'", "syndrome", "and", "mitochondrial", "DNA", "depletion", ".", "Alpers", "'", "syndrome", "is", "a", "fatal", "neurogenetic", "disorder", "first", "described", "more", "than", "70", "years", "ago", ".", "...
[ "1", "0", "0", "0", "2", "2", "2", "0", "2", "2", "2", "0", "2", "2", "2", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "...
17304550
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. We report cytogenetic and molecular studies of a de novo, apparently balanced t(1;3)(q32.1;q25.1) identified in a 12-year-old female (designated DGAP128) with cerebral atrophy, macrocephaly seizures, and developmental delay. A combi...
[ "Disruption", "of", "a", "synaptotagmin", "(", "SYT14", ")", "associated", "with", "neurodevelopmental", "abnormalities", ".", "We", "report", "cytogenetic", "and", "molecular", "studies", "of", "a", "de", "novo", ",", "apparently", "balanced", "t", "(", "1", ...
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20415560
Vitamin E reduces cardiovascular disease in individuals with diabetes mellitus and the haptoglobin 2-2 genotype. AIMS: Individuals with both diabetes mellitus (DM) and the Haptoglobin (Hp) 2-2 genotype are at increased risk of cardiovascular disease. As the antioxidant function of the Hp 2-2 protein is impaired, we sou...
[ "Vitamin", "E", "reduces", "cardiovascular", "disease", "in", "individuals", "with", "diabetes", "mellitus", "and", "the", "haptoglobin", "2-2", "genotype", ".", "AIMS", ":", "Individuals", "with", "both", "diabetes", "mellitus", "(", "DM", ")", "and", "the", ...
[ "3", "3", "0", "2", "2", "0", "0", "0", "2", "2", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "...
20523265
Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. PURPOSE: Genes in the complement pathway, including complement factor H (CFH), C2/BF, and C3, have been reported to be associated with age-related macular degeneration (AMD). Genetic variants, sin...
[ "Association", "study", "of", "complement", "factor", "H", ",", "C2", ",", "CFB", ",", "and", "C3", "and", "age-related", "macular", "degeneration", "in", "a", "Han", "Chinese", "population", ".", "PURPOSE", ":", "Genes", "in", "the", "complement", "pathway"...
[ "0", "0", "0", "1", "1", "1", "0", "1", "0", "1", "0", "0", "1", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "1", "0", "0", "1", "0", "0", "...
20949073
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious stop codon can lead to a mild disease outcome. Splici...
[ "Alternative", "splicing", "at", "a", "NAGNAG", "acceptor", "site", "as", "a", "novel", "phenotype", "modifier", ".", "Approximately", "30", "%", "of", "alleles", "causing", "genetic", "disorders", "generate", "premature", "termination", "codons", "(", "PTCs", "...
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21533187
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondrom...
[ "Loss-of-function", "mutations", "in", "PTPN11", "cause", "metachondromatosis", ",", "but", "not", "Ollier", "disease", "or", "Maffucci", "syndrome", ".", "Metachondromatosis", "(", "MC", ")", "is", "a", "rare", ",", "autosomal", "dominant", ",", "incompletely", ...
[ "0", "0", "0", "1", "0", "2", "0", "0", "0", "2", "2", "0", "2", "2", "0", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "2", "2", "0", "2", "...
15686794
Acute low back pain during intravenous administration of amiodarone: a report of two cases. Amiodarone represents an effective antiarrhythmic drug for cardioversion of recent-onset atrial fibrillation (AF) and maintenance of sinus rhythm. We briefly describe two patients suffering from recent-onset atrial fibrillation,...
[ "Acute", "low", "back", "pain", "during", "intravenous", "administration", "of", "amiodarone", ":", "a", "report", "of", "two", "cases", ".", "Amiodarone", "represents", "an", "effective", "antiarrhythmic", "drug", "for", "cardioversion", "of", "recent-onset", "at...
[ "0", "2", "2", "2", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "0", "3", "3", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "...
15755837
Common dihydrofolate reductase 19-base pair deletion allele: a novel risk factor for preterm delivery. BACKGROUND: Folate is critical for cell division, a major feature of in utero development. Dihydrofolate reductase (DHFR) is required to convert the folic acid used in supplements and for food fortification and the di...
[ "Common", "dihydrofolate", "reductase", "19-base", "pair", "deletion", "allele", ":", "a", "novel", "risk", "factor", "for", "preterm", "delivery", ".", "BACKGROUND", ":", "Folate", "is", "critical", "for", "cell", "division", ",", "a", "major", "feature", "of...
[ "0", "1", "1", "5", "5", "5", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "3", "3", "...
15851735
Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. BACKGROUND: Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening. Milder, later onset variants have been reported but were usually sporadic and incompletely defined. OBJECTIVE: To determin...
[ "Mild", "glycine", "encephalopathy", "(", "NKH", ")", "in", "a", "large", "kindred", "due", "to", "a", "silent", "exonic", "GLDC", "splice", "mutation", ".", "BACKGROUND", ":", "Classic", "neonatal-onset", "glycine", "encephalopathy", "(", "GE", ")", "is", "...
[ "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
18262054
A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. We describe a novel germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer. This mutation consists of two consecutive substitutions (735-6 TG>AT) that cause two nonsense mutations (Y245X, G246X), inherited i...
[ "A", "family", "with", "two", "consecutive", "nonsense", "mutations", "in", "BMPR1A", "causing", "juvenile", "polyposis", ".", "We", "describe", "a", "novel", "germline", "mutation", "of", "BMPR1A", "in", "a", "family", "with", "juvenile", "polyposis", "and", ...
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19101703
Study of a Taiwanese family with oculopharyngeal muscular dystrophy. BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. OPMD is caused by a short trinucleotide repeat expansion encoding an expanded polyalanine tract in the polyadenylate binding-protein nuclear 1 (P...
[ "Study", "of", "a", "Taiwanese", "family", "with", "oculopharyngeal", "muscular", "dystrophy", ".", "BACKGROUND", ":", "Oculopharyngeal", "muscular", "dystrophy", "(", "OPMD", ")", "is", "a", "late", "onset", "autosomal", "dominant", "muscle", "disorder", ".", "...
[ "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "0", "1", "1", "...
21904390
Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. PURPOSE: Aniridia (AN) is a rare congenital panocular disorder caused by the mutations of the paired box homeotic gene 6(PAX6) gene. The PAX6 gene is also involved in other anterior segment malformations including Peters a...
[ "Two", "novel", "mutations", "of", "the", "PAX6", "gene", "causing", "different", "phenotype", "in", "a", "cohort", "of", "Chinese", "patients", ".", "PURPOSE", ":", "Aniridia", "(", "AN", ")", "is", "a", "rare", "congenital", "panocular", "disorder", "cause...
[ "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "2", "0", "2", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "1", "0", "1", "0", "0", "0", "...
15241482
Paraoxonase 1 polymorphisms and survival. The antioxidant enzyme paraoxonase 1 (PON1) has previously been suggested to confer protection against coronary heart disease (CHD), one of the main causes of death in the Western world. Two coding polymorphisms, 55M/L and 192Q/R, and a promoter variant, -107C/T, has been exten...
[ "Paraoxonase", "1", "polymorphisms", "and", "survival", ".", "The", "antioxidant", "enzyme", "paraoxonase", "1", "(", "PON1", ")", "has", "previously", "been", "suggested", "to", "confer", "protection", "against", "coronary", "heart", "disease", "(", "CHD", ")",...
[ "1", "1", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
17273972
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated with a highly variable phenotype, including DiGeorge and Shprintzen (velocardiofacial) syndromes. Although haploinsuffi...
[ "Human", "TBX1", "missense", "mutations", "cause", "gain", "of", "function", "resulting", "in", "the", "same", "phenotype", "as", "22q11.2", "deletions", ".", "Deletion", "22q11.2", "syndrome", "is", "the", "most", "frequent", "known", "microdeletion", "syndrome",...
[ "4", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "2", "2", "0", "...
24588023
The association between tranexamic acid and convulsive seizures after cardiac surgery: a multivariate analysis in 11 529 patients. Because of a lack of contemporary data regarding seizures after cardiac surgery, we undertook a retrospective analysis of prospectively collected data from 11 529 patients in whom cardiopul...
[ "The", "association", "between", "tranexamic", "acid", "and", "convulsive", "seizures", "after", "cardiac", "surgery", ":", "a", "multivariate", "analysis", "in", "11", "529", "patients", ".", "Because", "of", "a", "lack", "of", "contemporary", "data", "regardin...
[ "0", "0", "0", "3", "3", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
15983230
Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. Impaired insulin secretion is a fundamental defect in type 2 diabetes. The aim of this study was to investigate whether single nucleotide polymorphisms (...
[ "Polymorphisms", "in", "the", "SLC2A2", "(", "GLUT2", ")", "gene", "are", "associated", "with", "the", "conversion", "from", "impaired", "glucose", "tolerance", "to", "type", "2", "diabetes", ":", "the", "Finnish", "Diabetes", "Prevention", "Study", ".", "Impa...
[ "0", "0", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "2", "2", "0", "0", "0", "2", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "...
16412238
Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BACKGROUND: Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal prolife...
[ "Peroxisomal", "proliferator", "activated", "receptor-gamma", "deficiency", "in", "a", "Canadian", "kindred", "with", "familial", "partial", "lipodystrophy", "type", "3", "(", "FPLD3", ")", ".", "BACKGROUND", ":", "Familial", "partial", "lipodystrophy", "(", "Dunnig...
[ "1", "1", "1", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "2", "2", "2", "2", "2", "2", "2", "2", "0", "2", "0", "2", "2", "2", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "...
18487244
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. We investigated clinical and cellular phenotypes of 24 children with mutations in the catalytic (alpha) subunit of the mitochondrial DNA (mtDNA) gamma polymerase (POLG1). Twenty-one had Alpe...
[ "Depletion", "of", "mitochondrial", "DNA", "in", "fibroblast", "cultures", "from", "patients", "with", "POLG1", "mutations", "is", "a", "consequence", "of", "catalytic", "mutations", ".", "We", "investigated", "clinical", "and", "cellular", "phenotypes", "of", "24...
[ "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "1", "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", "1", "1", "1", "1", "1", "...
19037252
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease....
[ "Mutations", "in", "phospholipase", "C", "epsilon", "1", "are", "not", "sufficient", "to", "cause", "diffuse", "mesangial", "sclerosis", ".", "Diffuse", "mesangial", "sclerosis", "occurs", "as", "an", "isolated", "abnormality", "or", "as", "a", "part", "of", "...
[ "0", "0", "1", "1", "1", "1", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "0", "1", "0", "0", "0", "0", "...
20129423
Fatal carbamazepine induced fulminant eosinophilic (hypersensitivity) myocarditis: emphasis on anatomical and histological characteristics, mechanisms and genetics of drug hypersensitivity and differential diagnosis. The most severe adverse reactions to carbamazepine have been observed in the haemopoietic system, the l...
[ "Fatal", "carbamazepine", "induced", "fulminant", "eosinophilic", "(", "hypersensitivity", ")", "myocarditis", ":", "emphasis", "on", "anatomical", "and", "histological", "characteristics", ",", "mechanisms", "and", "genetics", "of", "drug", "hypersensitivity", "and", ...
[ "0", "3", "0", "0", "0", "0", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
21699520
PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas. BACKGROUND: Basal cell carcinomas (BCCs) are the most frequent human cancer that results from malignant transformation of basal cells in the epidermis. Gorlin syndrome is a rare inh...
[ "PTCH1", "gene", "mutations", "in", "exon", "17", "and", "loss", "of", "heterozygosity", "on", "D9S180", "microsatellite", "in", "sporadic", "and", "inherited", "human", "basal", "cell", "carcinomas", ".", "BACKGROUND", ":", "Basal", "cell", "carcinomas", "(", ...
[ "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "2", "2", "2", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "4", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
22104738
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria. A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including developmental delay, short stature, brain abnormalities and massive excretion of malonic acid and methylmalonic acid. Molecular cha...
[ "Novel", "compound", "heterozygous", "mutation", "of", "MLYCD", "in", "a", "Chinese", "patient", "with", "malonic", "aciduria", ".", "A", "3-year-old", "Chinese", "boy", "presented", "with", "prominent", "clinical", "features", "of", "malonic", "aciduria", ",", ...
[ "0", "0", "0", "0", "0", "1", "0", "0", "0", "4", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "2", "2", "0", "2", "2", "0", "2", "2", "0", "0", "0", "0", "3", "3", "0", "3", "3", "...
15200408
Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. BACKGROUND: Primary vesicoureteral reflux (VUR) is a hereditary disorder characterized by the retrograde flow of urine into the ureters and kidneys. It affects about 1% of the young children and is thus ...
[ "Lack", "of", "major", "involvement", "of", "human", "uroplakin", "genes", "in", "vesicoureteral", "reflux", ":", "implications", "for", "disease", "heterogeneity", ".", "BACKGROUND", ":", "Primary", "vesicoureteral", "reflux", "(", "VUR", ")", "is", "a", "hered...
[ "0", "0", "0", "0", "0", "4", "1", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
18000905
Regional analysis on the occurrence of oral clefts in South America. The aim of this work was to search for unequal birth prevalence rates (BPRs) of cleft lip +/- cleft palate (CL/P), and cleft palate only (CPO), among different geographic areas in South America, and to analyze phenotypic characteristics and associated...
[ "Regional", "analysis", "on", "the", "occurrence", "of", "oral", "clefts", "in", "South", "America", ".", "The", "aim", "of", "this", "work", "was", "to", "search", "for", "unequal", "birth", "prevalence", "rates", "(", "BPRs", ")", "of", "cleft", "lip", ...
[ "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "2", "2", "0", "0", "2", "0", "...
18397285
L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease. Type 2A von Willebrand disease (VWD) is characterized by decreased platelet-dependent function of von Willebrand factor (VWF); this in turn ...
[ "L1503R", "is", "a", "member", "of", "group", "I", "mutation", "and", "has", "dominant-negative", "effect", "on", "secretion", "of", "full-length", "VWF", "multimers", ":", "an", "analysis", "of", "two", "patients", "with", "type", "2A", "von", "Willebrand", ...
[ "5", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "2", "2", "2", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "...
20588063
Permeability, ultrastructural changes, and distribution of novel proteins in the glomerular barrier in early puromycin aminonucleoside nephrosis. BACKGROUND/AIMS: It is still unclear what happens in the glomerulus when proteinuria starts. Using puromycin aminonucleoside nephrosis (PAN) rats, we studied early ultrastruc...
[ "Permeability", ",", "ultrastructural", "changes", ",", "and", "distribution", "of", "novel", "proteins", "in", "the", "glomerular", "barrier", "in", "early", "puromycin", "aminonucleoside", "nephrosis", ".", "BACKGROUND/AIMS", ":", "It", "is", "still", "unclear", ...
[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "3", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "3", "3", "2", "0", "2", "0", "4", "0", "0", "...
24100257
Takotsubo syndrome (or apical ballooning syndrome) secondary to Zolmitriptan. Takotsubo syndrome (TS), also known as broken heart syndrome, is characterized by left ventricle apical ballooning with elevated cardiac biomarkers and electrocardiographic changes suggestive of an acute coronary syndrome (ie, ST-segment elev...
[ "Takotsubo", "syndrome", "(", "or", "apical", "ballooning", "syndrome", ")", "secondary", "to", "Zolmitriptan", ".", "Takotsubo", "syndrome", "(", "TS", ")", ",", "also", "known", "as", "broken", "heart", "syndrome", ",", "is", "characterized", "by", "left", ...
[ "2", "2", "0", "0", "2", "2", "2", "0", "0", "0", "3", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "...
25263533
CD25(+) Bcl6(low) T follicular helper cells provide help to maturing B cells in germinal centers of human tonsil. The majority of CXCR5(+) PD1(+) CD4(+) T follicular helper (Tfh) cells ( >90%) are CD25(-) Bcl6(hi) , while a small subpopulation ( <10%) are CD25(+) Bcl6(low) but do not express FoxP3 and are not T reg...
[ "CD25", "(", "+", ")", "Bcl6", "(", "low", ")", "T", "follicular", "helper", "cells", "provide", "help", "to", "maturing", "B", "cells", "in", "germinal", "centers", "of", "human", "tonsil", ".", "The", "majority", "of", "CXCR5", "(", "+", ")", "PD1", ...
[ "1", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "1", "0", "0", "0", "1", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "...
16810074
Mechanisms of hypertension induced by nitric oxide (NO) deficiency: focus on venous function. Loss of endothelial cell-derived nitric oxide (NO) in hypertension is a hallmark of arterial dysfunction. Experimental hypertension created by the removal of NO, however, involves mechanisms in addition to decreased arterial v...
[ "Mechanisms", "of", "hypertension", "induced", "by", "nitric", "oxide", "(", "NO", ")", "deficiency", ":", "focus", "on", "venous", "function", ".", "Loss", "of", "endothelial", "cell-derived", "nitric", "oxide", "(", "NO", ")", "in", "hypertension", "is", "...
[ "0", "0", "2", "0", "0", "3", "3", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "3", "0", "3", "0", "0", "2", "0", "0", "0", "0", "2", "2", "0", "0", "2", "0", "0", "0", "0", "0", "3", "0", "0", "...
16920333
Anticonvulsant effect of eslicarbazepine acetate (BIA 2-093) on seizures induced by microperfusion of picrotoxin in the hippocampus of freely moving rats. Eslicarbazepine acetate (BIA 2-093, S-(-)-10-acetoxy-10,11-dihydro-5H-dibenzo/b,f/azepine-5-carboxamide) is a novel antiepileptic drug, now in Phase III clinical tri...
[ "Anticonvulsant", "effect", "of", "eslicarbazepine", "acetate", "(", "BIA", "2-093", ")", "on", "seizures", "induced", "by", "microperfusion", "of", "picrotoxin", "in", "the", "hippocampus", "of", "freely", "moving", "rats", ".", "Eslicarbazepine", "acetate", "(",...
[ "0", "0", "0", "3", "3", "0", "3", "3", "0", "0", "2", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "4", "0", "3", "3", "0", "3", "3", "0", "3", "3", "3", "3", "3", "3", "3", "0", "0", "0", "0", "3", "3", "0", "0", "...
17615423
Severe rhabdomyolysis and acute renal failure secondary to concomitant use of simvastatin, amiodarone, and atazanavir. OBJECTIVE: To report a case of a severe interaction between simvastatin, amiodarone, and atazanavir resulting in rhabdomyolysis and acute renal failure. BACKGROUND: A 72-year-old white man with underly...
[ "Severe", "rhabdomyolysis", "and", "acute", "renal", "failure", "secondary", "to", "concomitant", "use", "of", "simvastatin", ",", "amiodarone", ",", "and", "atazanavir", ".", "OBJECTIVE", ":", "To", "report", "a", "case", "of", "a", "severe", "interaction", "...
[ "0", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "3", "0", "0", "2", "0", "2", "2", "2", "0", "0", "0", "...
18182964
Clonidine for attention-deficit/hyperactivity disorder: II. ECG changes and adverse events analysis. OBJECTIVE: To examine the safety and tolerability of clonidine used alone or with methylphenidate in children with attention-deficit/hyperactivity disorder (ADHD). METHOD: In a 16-week multicenter, double-blind trial, 1...
[ "Clonidine", "for", "attention-deficit/hyperactivity", "disorder", ":", "II", ".", "ECG", "changes", "and", "adverse", "events", "analysis", ".", "OBJECTIVE", ":", "To", "examine", "the", "safety", "and", "tolerability", "of", "clonidine", "used", "alone", "or", ...
[ "3", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "3", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
18422462
Spectrum of adverse events after generic HAART in southern Indian HIV-infected patients. To determine the incidence of clinically significant adverse events after long-term, fixed-dose, generic highly active antiretroviral therapy (HAART) use among HIV-infected individuals in South India, we examined the experiences of...
[ "Spectrum", "of", "adverse", "events", "after", "generic", "HAART", "in", "southern", "Indian", "HIV-infected", "patients", ".", "To", "determine", "the", "incidence", "of", "clinically", "significant", "adverse", "events", "after", "long-term", ",", "fixed-dose", ...
[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "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", "2", "0", "0", "0", "0", "0", "0", "0", "...
18442015
Protective effect of verapamil on gastric hemorrhagic ulcers in severe atherosclerotic rats. Studies concerning with pathogenesis of gastric hemorrhage and mucosal ulceration produced in atherosclerotic rats are lacking. The aim of this study is to examine the role of gastric acid back-diffusion, mast cell histamine re...
[ "Protective", "effect", "of", "verapamil", "on", "gastric", "hemorrhagic", "ulcers", "in", "severe", "atherosclerotic", "rats", ".", "Studies", "concerning", "with", "pathogenesis", "of", "gastric", "hemorrhage", "and", "mucosal", "ulceration", "produced", "in", "at...
[ "0", "0", "0", "3", "0", "2", "2", "2", "0", "0", "2", "4", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "2", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
18754075
Massive proteinuria and acute renal failure after oral bisphosphonate (alendronate) administration in a patient with focal segmental glomerulosclerosis. A 61-year-old Japanese man with nephrotic syndrome due to focal segmental glomerulosclerosis was initially responding well to steroid therapy. The amount of daily urin...
[ "Massive", "proteinuria", "and", "acute", "renal", "failure", "after", "oral", "bisphosphonate", "(", "alendronate", ")", "administration", "in", "a", "patient", "with", "focal", "segmental", "glomerulosclerosis", ".", "A", "61-year-old", "Japanese", "man", "with", ...
[ "0", "2", "0", "2", "2", "2", "0", "0", "3", "0", "3", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "0", "0", "0", "4", "0", "2", "2", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "...
18945509
Risk of coronary artery disease associated with initial sulphonylurea treatment of patients with type 2 diabetes: a matched case-control study. AIMS: This study sought to assess the risk of developing coronary artery disease (CAD) associated with initial treatment of type 2 diabetes with different sulphonylureas. METHO...
[ "Risk", "of", "coronary", "artery", "disease", "associated", "with", "initial", "sulphonylurea", "treatment", "of", "patients", "with", "type", "2", "diabetes", ":", "a", "matched", "case-control", "study", ".", "AIMS", ":", "This", "study", "sought", "to", "a...
[ "0", "0", "2", "2", "2", "0", "0", "0", "3", "0", "0", "4", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "2", "...
19058010
Effect of green tea and vitamin E combination in isoproterenol induced myocardial infarction in rats. The present study was aimed to investigate the combined effects of green tea and vitamin E on heart weight, body weight, serum marker enzymes, lipid peroxidation, endogenous antioxidants and membrane bound ATPases in i...
[ "Effect", "of", "green", "tea", "and", "vitamin", "E", "combination", "in", "isoproterenol", "induced", "myocardial", "infarction", "in", "rats", ".", "The", "present", "study", "was", "aimed", "to", "investigate", "the", "combined", "effects", "of", "green", ...
[ "0", "0", "3", "3", "0", "3", "3", "0", "0", "3", "0", "2", "2", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "3", "0", "3", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "...
23949582
The cytogenetic action of ifosfamide, mesna, and their combination on peripheral rabbit lymphocytes: an in vivo/in vitro cytogenetic study. Ifosfamide (IFO) is an alkylating nitrogen mustard, administrated as an antineoplasmic agent. It is characterized by its intense urotoxic action, leading to hemorrhagic cystitis. T...
[ "The", "cytogenetic", "action", "of", "ifosfamide", ",", "mesna", ",", "and", "their", "combination", "on", "peripheral", "rabbit", "lymphocytes", ":", "an", "in", "vivo/in", "vitro", "cytogenetic", "study", ".", "Ifosfamide", "(", "IFO", ")", "is", "an", "a...
[ "0", "0", "0", "0", "3", "0", "3", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "0", "3", "3", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...