A novel spice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

1996 ◽  
Vol 13 (2) ◽  
pp. 248-250 ◽  
Author(s):  
Sandra S. Strautnieks ◽  
Richard J. Thompson ◽  
R. Mark Gardiner ◽  
Eddie Chung
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Site Mutation ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Γ Subunit ◽  
Pseudohypoaldosteronism Type

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

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

1996 ◽  
Vol 12 (3) ◽  
pp. 248-253 ◽  
Author(s):  
Sue S. Chang ◽  
Stefan Grunder ◽  
Aaron Hanukoglu ◽  
Ariel Rösler ◽  
P.M. Mathew ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Salt Wasting ◽  
Pseudohypoaldosteronism Type

Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the α-subunit of the epithelial sodium channel

1999 ◽  
Vol 135 (6) ◽  
pp. 739-745 ◽  
Author(s):  
Charlotta Schaedel ◽  
Lars Marthinsen ◽  
Ann-Charlotte Kristoffersson ◽  
Ragnhild Kornfält ◽  
Karl Olof Nilsson ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Α Subunit ◽  
Pseudohypoaldosteronism Type

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 Steroid Effects on Renal Epithelial Sodium Channel Gene Expression † 276

1998 ◽  
Vol 43 ◽  
pp. 50-50
Author(s):  
Hans D Katzberg ◽  
Samir R Malhotra ◽  
Vugranam C Venkatesh
Keyword(s):  
Gene Expression ◽  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Channel Gene ◽  
Sodium Channel Gene

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
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