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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
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
32161960 (PubMed )
Supplement: hpaa037_suppl_supplementary_table_s2.doc
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
A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case.
Yang KQ et al.
Clinical Endocrinology, 2015
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_22.xlsx › OMIM
Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.
Jeunemaitre X et al.
Journal of Hypertension, 1997
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1.
Oh YS et al.
Experimental Nephrology, 0
Reversal of convention: from man to experimental animal in elucidating the function of the renal amiloride-sensitive sodium channel.
Hummler E
Experimental Nephrology, 0
Select a paper to view details