Associated Papers
Liddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review.
Tian J et al.
Kidney & Blood Pressure Research, 2024
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
Neonatal presentation of a patient with Liddle syndrome, South Africa.
Steyn N et al.
African Journal of Laboratory Medicine, 2023
Kidney ion handling genes and their interaction in blood pressure control.
An C et al.
Bioscience Reports, 2022
Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function.
Blobner BM et al.
Hypertension (dallas, Tex. : 1979), 2022
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
Association of αENaC p. Ala663Thr Gene Polymorphism With Sudden Sensorineural Hearing Loss.
Chen J et al.
Frontiers in Genetics, 2021
Genome-Wide Association Analysis of Single-Breath DlCO.
Sakornsakolpat P et al.
American Journal of Respiratory Cell and Molecular Biology, 2019
Liddle's syndrome mechanisms, diagnosis and management.
Enslow BT et al.
Integrated Blood Pressure Control, 2019
Liddle Syndrome: Review of the Literature and Description of a New Case.
Tetti M et al.
International Journal of Molecular Sciences, 2018
Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity.
Ray EC et al.
American Journal of Physiology. Renal Physiology, 2016
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
Hanukoglu I et al.
Gene, 2016
Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.
Brennan ML et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
Evaluation of the relationship between T663A polymorphism in the alpha-epithelial sodium channel gene and essential hypertension.
Yang W et al.
Saudi Medical Journal, 2015
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.
Stanke F et al.
Journal of Medical Genetics, 2011
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Zhang G et al.
Human Mutation, 2010
Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study.
Irvin MR et al.
Journal of Hypertension, 2010
PhosphoPOINT: a comprehensive human kinase interactome and phospho-protein database.
Yang CY et al.
Bioinformatics (oxford, England), 2008
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
The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
Stanke F et al.
Human Genetics, 2006
Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study.
Hsieh K et al.
Clinical Chemistry, 2005
The epithelial sodium channel in hypertension: genetic heterogeneity and implications for treatment with amiloride.
Swift PA et al.
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 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, salt intake, and hypertension.
Hummler E
Current Hypertension Reports, 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
Clinical and genetic characteristics of the patients with hypertension and hypokalemia carrying a novel SCNN1A mutation.
Chen M et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 0