Associated Papers
Genomic Exploration of Essential Hypertension in African-Brazilian Quilombo Populations: A Comprehensive Approach with Pedigree Analysis and Family-Based Association Studies.
Magalhães Borges V et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Characterization of the Common Genetic Variation in the Spanish Population of Navarre.
Maillo A et al.
Genes, 2024
Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.
Kalideen K et al.
Journal of Personalized Medicine, 2024
A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.
Lu Y et al.
Molecular Medicine Reports, 2024
The role of genetics in maternal susceptibility to preeclampsia in women of African ancestry.
Ishmail H et al.
Journal of Reproductive Immunology, 2023
[Hypercalcemia in patients with mutations in NR3C2 and SCNN1B].
Sainz de Los Terreros Errea A et al.
Medicina Clinica, 2023
A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension.
Lu YT et al.
Frontiers in Cardiovascular Medicine, 2022
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel β-subunit.
Ding X et al.
Experimental and Therapeutic Medicine, 2019
Association of Genetic Variation in the Epithelial Sodium Channel Gene with Urinary Sodium Excretion and Blood Pressure.
Yang YJ et al.
Nutrients, 2018
Analysis of the genes involved in Mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients.
Liu K et al.
Journal of Hypertension, 2018
Liddle's syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene.
Freercks R et al.
Cardiovascular Journal of Africa, 2017
High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension.
Jones ES et al.
American Journal of Hypertension, 2017
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
Hanukoglu I et al.
Gene, 2016
Molecular genetics of Liddle's syndrome.
Yang KQ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.
Ramos MD et al.
Clinical Genetics, 2014
Phenotype-genotype analysis in two Chinese families with Liddle syndrome.
Gong L et al.
Molecular Biology Reports, 2014
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome.
Wang Y et al.
Clinical Endocrinology, 2007
Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.
Furuhashi M et al.
The Journal of Clinical Endocrinology and Metabolism, 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
A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension.
Rayner BL et al.
Journal of Hypertension, 2003
The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension.
Jones ES et al.
Cardiovascular Journal of Africa, 0