A Case of Severe Hyperaldosteronism Caused by a De Novo Mutation Affecting a Critical Salt Bridge Kir3.4 Residue | Zendy

Silvia Monticone | Zendy; Sascha Bandulik | Zendy; Julia Stindl | Zendy; Mihail Zilbermint | Zendy; И. И. Дедов | Zendy; Paolo Mulatero | Zendy; Michael Allgäeuer | Zendy; ChyiChia Richard Lee | Zendy; Constantine A. Stratakis | Zendy; Tracy Ann Williams | Zendy; Anatoly Tiulpakov | Zendy

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A Case of Severe Hyperaldosteronism Caused by a De Novo Mutation Affecting a Critical Salt Bridge Kir3.4 Residue

Author(s) -

Silvia Monticone,

Sascha Bandulik,

Julia Stindl,

Mihail Zilbermint,

И. И. Дедов,

Paolo Mulatero,

Michael Allgäeuer,

ChyiChia Richard Lee,

Constantine A. Stratakis,

Tracy Ann Williams,

Anatoly Tiulpakov

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-3636

Subject(s) - hyperaldosteronism , salt bridge , residue (chemistry) , bridge (graph theory) , salt (chemistry) , chemistry , medicine , aldosterone , biochemistry , organic chemistry , mutant , gene

Familial hyperaldosteronism type III (FH-III) is a rare and clinically heterogeneous condition, that can display mild as well as severe phenotypes. Point mutations in the KCNJ5 gene, affecting the ion selectivity of the inward rectifier K(+) channel 4 (Kir3.4), underlie the molecular basis of FH-III.

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