scholarly journals Liddle’s syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene

2017 ◽  
Vol 28 (5) ◽  
pp. e4-e6 ◽  
Author(s):  
Robert Freercks ◽  
Surita Meldau ◽  
Erika Jones ◽  
Jason Ensor ◽  
Clarise Weimers-Willard ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Frameshift Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

scholarly journals Mutations and Variants of the Epithelial Sodium Channel Gene in Liddle’s Syndrome and Primary Hypertension

Hypertension ◽  
1998 ◽  
Vol 31 (5) ◽  
pp. 1118-1124 ◽  
Author(s):  
Olle Melander ◽  
Marju Orho ◽  
Johan Fagerudd ◽  
Kristina Bengtsson ◽  
Per-Henrik Groop ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Primary Hypertension ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

scholarly journals Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

1996 ◽  
Vol 97 (7) ◽  
pp. 1780-1784 ◽  
Author(s):  
H Tamura ◽  
L Schild ◽  
N Enomoto ◽  
N Matsui ◽  
F Marumo ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Channel Gene ◽  
Sodium Channel Gene

Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel γ subunit

2002 ◽  
Vol 20 (12) ◽  
pp. 2383-2390 ◽  
Author(s):  
Timo P Hiltunen ◽  
Tuula Hannila-Handelberg ◽  
Noora Petäjäniemi ◽  
Ilkka Kantola ◽  
Ilkka Tikkanen ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Point Mutation ◽  
Epithelial Sodium Channel ◽  
Extracellular Domain ◽  
Γ Subunit ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

scholarly journals Acute Regulation of the Epithelial Sodium Channel Gene by Vasopressin and Hyperosmolality

2003 ◽  
Vol 26 (8) ◽  
pp. 629-634 ◽  
Author(s):  
Kenji MACHIDA ◽  
Hiroshi NONOGUCHI ◽  
Shiho WAKAMATSU ◽  
Hideki INOUE ◽  
Tatjana YOSIFOVSKA ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Channel Gene ◽  
Sodium Channel Gene

scholarly journals A Family with Liddle’s Syndrome Caused by a New Missense Mutation in the β Subunit of the Epithelial Sodium Channel

1998 ◽  
Vol 83 (6) ◽  
pp. 2210-2213 ◽  
Author(s):  
Junnosuke Inoue ◽  
Taisuke Iwaoka ◽  
Hiroshi Tokunaga ◽  
Kazufumi Takamune ◽  
Shojiro Naomi ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Sodium Current ◽  
Epithelial Sodium Channel ◽  
Missense Mutations ◽  
Β Subunit ◽  
Dominant Form ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome ◽  
Py Motif

Liddle’s syndrome is an autosomal dominant form of salt sensitive hypertension caused by mutations in the β or γ subunit of the epithelial sodium channel. Systemic mutagenesis studies revealed that a conserved PPPXY sequence (PY motif) of the C-terminus of the α, β, or γ subunits might be involved in the regulation of the channel activity. However, only two missense mutations in the PY motif of theβ subunit have been reported to cause Liddle’s syndrome. We sequenced the C-termini of the β and γ subunits of the epithelial sodium channel in a Japanese family clinically diagnosed as having Liddle’s syndrome and found a new missense mutation in the PY motif of the β subunit, P615S. Expression studies with P615S mutant in Xenopus oocytes resulted in an about 3-fold increase in the amiloride-sensitive sodium current compared to the wild type (p = 0.001). These findings provide further clinical evidence for the hypothesis that a conserved PY motif may be critically important for the regulation of the epithelial sodium channel.

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
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