scholarly journals Dysfunction of the Epithelial Sodium Channel Expressed in the Kidney of a Mouse Model for Liddle Syndrome

2003 ◽  
Vol 14 (9) ◽  
pp. 2219-2228 ◽  
Author(s):  
S. Pradervand
Keyword(s):  
Mouse Model ◽  
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

scholarly journals Aldosterone responsiveness of the epithelial sodium channel (ENaC) in colon is increased in a mouse model for Liddle's syndrome

2008 ◽  
Vol 586 (2) ◽  
pp. 459-475 ◽  
Author(s):  
Marko Bertog ◽  
John E. Cuffe ◽  
Sylvain Pradervand ◽  
Edith Hummler ◽  
Andrea Hartner ◽  
...  
Keyword(s):  
Mouse Model ◽  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome ◽  
Epithelial Sodium Channel Enac

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
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