A novel epithelial sodium channel ?-subunit mutation associated with hypertensive Liddle syndrome

2005 ◽  
Vol 20 (4) ◽  
pp. 512-515 ◽  
Author(s):  
Michael Freundlich ◽  
Michael Ludwig
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Liddle Syndrome

A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case

2015 ◽  
Vol 82 (4) ◽  
pp. 611-614 ◽  
Author(s):  
Kun-Qi Yang ◽  
Chao-Xia Lu ◽  
Yan Xiao ◽  
Ya-Xin Liu ◽  
Xiong-Jing Jiang ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Frameshift Mutation ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

scholarly journals 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

2016 ◽  
Vol 2 (6) ◽  
pp. a001255 ◽  
Author(s):  
Linda M. Polfus ◽  
Eric Boerwinkle ◽  
Richard A. Gibbs ◽  
Ginger Metcalf ◽  
Donna Muzny ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome ◽  
Whole Exome

Liddle syndrome caused by P616R mutation of the epithelial sodium channel β subunit

2005 ◽  
Vol 20 (6) ◽  
pp. 837-838 ◽  
Author(s):  
Andrzej Ciechanowicz ◽  
Zdenek Dolezel ◽  
Grzegorz Placha ◽  
Jiri Starha ◽  
Jarosław Góra ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome

2021 ◽  
pp. 1-9
Author(s):  
Štěpán Mareš ◽  
Jan Filipovský ◽  
Kateřina Vlková ◽  
Martin Pešta ◽  
Václava Černá ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Nonsense Mutation ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

scholarly journals In Liddle Syndrome, Epithelial Sodium Channel Is Hyperactive Mainly in the Early Part of the Aldosterone-Sensitive Distal Nephron

Hypertension ◽  
2016 ◽  
Vol 67 (6) ◽  
pp. 1256-1262 ◽  
Author(s):  
Viatcheslav Nesterov ◽  
Bettina Krueger ◽  
Marko Bertog ◽  
Anke Dahlmann ◽  
Ralf Palmisano ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Distal Nephron ◽  
Liddle Syndrome

Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome

1995 ◽  
Vol 11 (1) ◽  
pp. 76-82 ◽  
Author(s):  
Joni H. Hansson ◽  
Carol Nelson-Williams ◽  
Hiroshi Suzuki ◽  
Laurent Schild ◽  
Richard Shimkets ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Genetic Heterogeneity ◽  
Epithelial Sodium Channel ◽  
Liddle Syndrome ◽  
Γ Subunit
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