Associated Papers
Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.
Gao Z et al.
Archives of Endocrinology and Metabolism, 2023
Kidney ion handling genes and their interaction in blood pressure control.
An C et al.
Bioscience Reports, 2022
The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.
Lin SC et al.
Biomedicines, 2022
Pathophysiology of Bronchiectasis.
Keir HR et al.
Seminars in Respiratory and Critical Care Medicine, 2021
Function and Regulation of the Epithelial Na+ Channel ENaC.
Rotin D et al.
Comprehensive Physiology, 2021
Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.
Minso R et al.
Bmj Open Respiratory Research, 2020
Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating.
Wang X et al.
The Journal of Biological Chemistry, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.
Guan WJ et al.
Journal of Thoracic Disease, 2018
Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature.
Nur N et al.
Case Reports in Pediatrics, 2017
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.
Polfus LM et al.
Cold Spring Harbor Molecular Case Studies, 2016
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
Hanukoglu I et al.
Gene, 2016
Nasal potential difference of carriers of the W493R ENaC variant with non-cystic fibrosis bronchiectasis.
Rademacher J et al.
The European Respiratory Journal, 2016
Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.
Sun HY et al.
Journal of Chemical Information and Modeling, 2013
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors.
Gupta T et al.
American Journal of Medical Genetics. Part A, 2013
Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies.
Nguyen KD et al.
Circulation Research, 2013
Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation.
Handschick M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes.
Kuehl K et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2010
Genetic profiling of human cell lines used as in vitro model to study cardiovascular pathophysiology and pharmacotoxicology.
Jeannesson E et al.
Cell Biology and Toxicology, 2009
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Azad AK et al.
Human Mutation, 2009
Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study).
van Greevenbroek MM et al.
Bmc Medical Genetics, 2008
Association between 49 infant gene polymorphisms and preterm delivery.
Chen BH et al.
American Journal of Medical Genetics. Part A, 2007
Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs.
Vormfelde SV et al.
Clinical Pharmacology and Therapeutics, 2007
Candidate genetic risk factors of stroke: results of a multilocus genotyping assay.
Lalouschek W et al.
Clinical Chemistry, 2007
Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation.
Carmichael SL et al.
American Journal of Medical Genetics. Part A, 2006
Candidate gene polymorphisms do not differ between newborns with stroke and normal controls.
Miller SP et al.
Stroke, 2006
Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis.
Torfs CP et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks.
Penco S et al.
Annals of Human Genetics, 2005
Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.
Shaw GM et al.
American Journal of Medical Genetics. Part A, 2005
Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study.
Hsieh K et al.
Clinical Chemistry, 2005
Genotype-phenotype correlations (II): assessing the influence of sequence variants on the clinical phenotype in multifactorial disorders.
Silverman LM et al.
Clinical Chemistry, 2005
Hypertension genes are genetic markers for insulin sensitivity and resistance.
Guo X et al.
Hypertension (dallas, Tex. : 1979), 2005
Ethnic differences in the linkage disequilibrium and distribution of single-nucleotide polymorphisms in 35 candidate genes for cardiovascular diseases.
Ng MC et al.
Genomics, 2004
Genotypes and haplotypes predisposing to myocardial infarction: a multilocus case-control study.
Tobin MD et al.
European Heart Journal, 2004
Search for haplotype interactions that influence susceptibility to type 1 diabetes, through use of unphased genotype data.
Zhang J et al.
American Journal of Human Genetics, 2003
Epithelial sodium channel/degenerin family of ion channels: a variety of functions for a shared structure.
Kellenberger S et al.
Physiological Reviews, 2002
Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis of common complex disease.
Zee RY et al.
The Pharmacogenomics Journal, 2002