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
Liddle syndrome with a SCNN1B mutation: a case report and systematic review.
Tang Q et al.
Bmc Nephrology, 2025
A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature.
Tokunaga M et al.
Endocrine Journal, 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
A Family with Liddle Syndrome Caused by a Novel Stop-Gain Mutation in the γ Subunit of Epithelial Sodium Channels.
Wang X et al.
Nephron, 2022
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
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.
Bao M et al.
Journal of Medical Genetics, 2020
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
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
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B.
Fan P et al.
Endocrine Connections, 2018
Liddle Syndrome: Review of the Literature and Description of a New Case.
Tetti M et al.
International Journal of Molecular Sciences, 2018
Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.
Yang KQ et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 2018
Liddle syndrome: clinical and genetic profiles.
Cui Y et al.
Journal of Clinical Hypertension (greenwich, Conn.), 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
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
Molecular genetics of Liddle's syndrome.
Yang KQ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Phenotype-genotype analysis in two Chinese families with Liddle syndrome.
Gong L et al.
Molecular Biology Reports, 2014
Nedd4-2 induces endocytosis and degradation of proteolytically cleaved epithelial Na+ channels.
Kabra R et al.
The Journal of Biological Chemistry, 2008
Nedd4-2 catalyzes ubiquitination and degradation of cell surface ENaC.
Zhou R et al.
The Journal of Biological Chemistry, 2007
Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.
Jeunemaitre X et al.
Journal of Hypertension, 1997
The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension.
Jones ES et al.
Cardiovascular Journal of Africa, 0
Development and Diseases of the Collecting Duct System.
Chen L et al.
Results and Problems in Cell Differentiation, 0