Associated Papers
Novel frameshift variant in the β subunit of epithelial sodium channels uncovers Liddle syndrome in a young patient with metabolic syndrome: a case report with review of literature.
Li A et al.
Endocrine Journal, 2026
Critical role of accurate diagnosis in Liddle's syndrome: a case report and literature review highlighting the importance of genetic testing, a rigorous diagnostic algorithm and early intervention in preventing cardiovascular and renal complications.
Ripeau DB et al.
Journal of Hypertension, 2025
DeepMVP: deep learning models trained on high-quality data accurately predict PTM sites and variant-induced alterations.
Wen B et al.
Nature Methods, 2025
Liddle syndrome with a SCNN1B mutation: a case report and systematic review.
Tang Q et al.
Bmc Nephrology, 2025
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.
Fan P et al.
American Journal of Hypertension, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
Liddle Syndrome: Review of the Literature and Description of a New Case.
Tetti M et al.
International Journal of Molecular Sciences, 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
The importance of genetic counseling and genetic screening: a case report of a 16-year-old boy with resistant hypertension and severe hypokalemia.
Kuang ZM et al.
Journal of the American Society of Hypertension : Jash, 2017
Ankyrin G Expression Regulates Apical Delivery of the Epithelial Sodium Channel (ENaC).
Klemens CA et al.
The Journal of Biological Chemistry, 2017
Liddle syndrome in a Turkish family with heterogeneous phenotypes.
Büyükkaragöz B et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population.
Wang LP et al.
Journal of Clinical Hypertension (greenwich, Conn.), 2015
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit.
Ciechanowicz A et al.
Pediatric Nephrology (berlin, Germany), 2005
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
[Regulation by vasopressin of NaCl absorption in the renal collecting duct].
Vandewalle A
Journal De La Societe De Biologie, 2005
A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome.
Nakano Y et al.
Journal of Hypertension, 2002
Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel--a report of five affected family members.
Gao PJ et al.
Journal of Hypertension, 2001
Genetic disorders of membrane transport. V. The epithelial sodium channel and its implication in human diseases.
Hummler E et al.
The American Journal of Physiology, 1999
Liddle syndrome: an autosomal dominant form of human hypertension.
Warnock DG
Kidney International, 1998
Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome.
Schild L et al.
The Embo Journal, 1996
Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.
Tamura H et al.
The Journal of Clinical Investigation, 1996