Search Results - "Tanck, Michael W.T"
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Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction
Published in Circulation (New York, N.Y.) (24-01-2006)“…Reduced cardiac sodium current slows conduction and renders the heart susceptible to ventricular fibrillation. Loss of function mutations in SCN5A, encoding…”
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2
Common genetic variation modulating cardiac ECG parameters and susceptibility to sudden cardiac death
Published in Journal of molecular and cellular cardiology (01-03-2012)“…Abstract Sudden cardiac death (SCD) is a prevalent cause of death in Western societies. Genome-wide association studies (GWAS) conducted over the last few…”
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3
ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis[S]
Published in Journal of lipid research (01-10-2010)“…Genetic variation at the ABCG5/G8 locus has been associated with markers of cholesterol homeostasis. As data originate from small-scale studies, we performed a…”
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4
Diagnosing familial hypercholesterolaemia: the relevance of genetic testing
Published in European heart journal (01-09-2006)“…We assembled a cohort of patients with familial hypercholesterolaemia (FH) for both basic and clinical research. We used a set of established diagnostic…”
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5
Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia
Published in European heart journal (01-02-2007)“…Aims To investigate the influence of different LDL-receptor (LDLR) gene mutations on age at first cardiovascular event in familial hypercholesterolaemia (FH)…”
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6
The Effects of the Pro12Ala Polymorphism of the Peroxisome Proliferator–Activated Receptor-γ2 Gene on Glucose/Insulin Metabolism Interact With Prenatal Exposure to Famine
Published in Diabetes care (01-05-2006)“…The Effects of the Pro12Ala Polymorphism of the Peroxisome Proliferator–Activated Receptor-γ2 Gene on Glucose/Insulin Metabolism Interact With Prenatal…”
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7
Common and rare susceptibility genetic variants predisposing to Brugada syndrome in Thailand
Published in Heart rhythm (01-12-2020)“…Mutations in SCN5A are rarely found in Thai patients with Brugada syndrome (BrS). Recent evidence suggested that common genetic variations may underlie BrS in…”
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8
Striatal Dopamine Transporter Availability Associated with Polymorphisms in the Dopamine Transporter Gene SLC6A3
Published in Journal of Nuclear Medicine (01-01-2009)“…Polymorphisms in the dopamine transporter (DAT) gene SLC6A3 are associated with human striatal DAT expression, but the exact effects on DAT expression are not…”
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9
Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction
Published in Nature genetics (01-08-2010)“…Sudden cardiac death from ventricular fibrillation during acute myocardial infarction is a leading cause of total and cardiovascular mortality. To our…”
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10
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene
Published in Biochimica et biophysica acta (01-04-2016)“…Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of the pyrimidine bases uracil, thymine and the antineoplastic…”
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11
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
Published in Journal of human genetics (01-04-2023)“…Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial…”
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Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation
Published in American journal of human genetics (01-04-2009)“…Idiopathic Ventricular Fibrillation (IVF) is defined as spontaneous VF without any known structural or electrical heart disease. A family history is present in…”
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13
Risk scores for outcome in bacterial meningitis: Systematic review and external validation study
Published in The Journal of infection (01-11-2016)“…Summary Objectives To perform an external validation study of risk scores, identified through a systematic review, predicting outcome in community-acquired…”
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14
Immunogenicity of pneumococcal vaccination in HIV infected individuals: A systematic review and meta-analysis
Published in EClinicalMedicine (01-12-2020)“…The objective of this systematic review and meta-analysis was to summarise the literature regarding the immunogenicity of pneumococcal conjugate vaccines (PCV)…”
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15
Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction
Published in PLoS genetics (01-12-2012)“…Atrio-ventricular conduction disease is a common feature in Mendelian rhythm disorders associated with sudden cardiac death and is characterized by…”
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16
Chromosomal region 11p15 is associated with male factor subfertility
Published in Molecular human reproduction (01-10-2003)“…The molecular aetiology of male factor subfertility, due to impaired spermatogenesis, is still unknown in the majority of cases. It is thought to be a complex…”
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17
Children with hypercholesterolemia of unknown cause: Value of genetic risk scores
Published in Journal of clinical lipidology (01-07-2016)“…Background Familial hypercholesterolemia (FH) is caused by mutations in LDLR , APOB , or PCSK9 , and in a previous study, we identified a causative mutation in…”
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18
Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia
Published in Journal of clinical lipidology (01-03-2017)“…Background Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor ( LDLR ), apolipoprotein…”
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19
Integrative Genomic Approach Identifies Multiple Genes Involved in Cardiac Collagen Deposition
Published in Circulation. Cardiovascular genetics (01-12-2014)“…BACKGROUND—With aging and in cardiac disease, fibrosis caused by collagen deposition is increased, impairing contractility and providing a substrate for…”
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20
Quantitative trait loci for electrocardiographic parameters and arrhythmia in the mouse
Published in Journal of molecular and cellular cardiology (01-03-2011)“…Abstract Cardiac arrhythmias associated with sudden death are influenced by multiple biological pathways and are modulated by numerous genetic and…”
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