Commentary on Expression of Exogenous Epithelial Sodium Channel Beta Subunit in the Mouse Middle Cerebral Artery Increases Pressure-Induced Constriction

2021 ◽  
Author(s):  
Charles T Stier ◽  
Sachin Gupte
Keyword(s):  
Sodium Channel ◽  
Middle Cerebral Artery ◽  
Cerebral Artery ◽  
Epithelial Sodium Channel ◽  
Beta Subunit

A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension

2003 ◽  
Vol 21 (5) ◽  
pp. 921-926 ◽  
Author(s):  
Brian L Rayner ◽  
E Patricia Owen ◽  
Judy A King ◽  
Steven G Soule ◽  
Heleen Vreede ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
New Mutation

scholarly journals Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease

1998 ◽  
pp. 691-697 ◽  
Author(s):  
T Inoue ◽  
Y Okauchi ◽  
Y Matsuzaki ◽  
K Kuwajima ◽  
H Kondo ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Serum Potassium ◽  
De Novo ◽  
Novel Mutation ◽  
Laboratory Data ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Insertion Mutation ◽  
Free Cortisol ◽  
Base Insertion

We describe a family with Liddle's disease caused by a novel mutation of the beta subunit of the human epithelial sodium channel (ENaC). A 15-year-old Japanese female was referred to our outclinic because of hypertension. The physical examination showed no abnormal findings except mild hypertension, but the laboratory data revealed low levels of plasma renin activity, plasma aldosterone and serum potassium. A comprehensive analysis of steroid hormones showed only high levels of urinary free cortisol and 17-hydroxycorticosteroids. During loading tests, blood pressure and serum potassium responded well to triamterene and slightly to spironolactone, but did not respond to dexamethasone. In addition, the normal ratio of tetrahydrocortisol plus 5alpha-tetrahydrocortisol to tetrahydrocortisone in a 24 h urinary excretion test strongly suggested a diagnosis of Liddle's disease rather than apparent mineralocorticoid excess syndrome. DNA sequence analysis of members of this family revealed a single cytosine base insertion at Arg-597 of the beta human ENaC in the proband and her mother, leading to a loss of the last 34 amino acids from the normally encoded protein as the result of a frameshift. We conclude that a de novo cytosine insertion into the final exon of the C-terminus of the beta human ENaC is responsible for Liddle's disease in this Japanese family.

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 The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension : cardiovascular topics

2011 ◽  
Vol 22 (5) ◽  
pp. 241-244 ◽  
Author(s):  
E.S.W. Jones ◽  
E.P. Owen ◽  
J.S. Davidson ◽  
L. Van der Merwe ◽  
B.L. Rayner
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Beta Subunit

A Family with Liddle Syndrome Caused by a Novel Missense Mutation in the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel

2013 ◽  
Vol 162 (1) ◽  
pp. 166-170 ◽  
Author(s):  
Linggen Gao ◽  
Linping Wang ◽  
Yaxin Liu ◽  
Xianliang Zhou ◽  
Rutai Hui ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Liddle Syndrome ◽  
Py Motif

Gene Structure of the Human Amiloride-Sensitive Epithelial Sodium Channel Beta Subunit

1998 ◽  
Vol 252 (1) ◽  
pp. 208-213 ◽  
Author(s):  
Anjana Saxena ◽  
Israel Hanukoglu ◽  
Sandra S. Strautnieks ◽  
Richard J. Thompson ◽  
R.Mark Gardiner ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Gene Structure ◽  
Epithelial Sodium Channel ◽  
Beta Subunit
Sign in / Sign up

Export Citation Format

Share Document