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Article

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

Proceedings of the National Academy of Sciences of the United States of America - 14 Feb 2012

Scholl Ute I, Nelson-Williams Carol, Yue Peng, Grekin Roger, Wyatt Robert J, Dillon Michael J, Couch Robert, Hammer Lisa K, Harley Frances L, Farhi Anita, Wang Wen-Hui, Lifton Richard P

Abstract excerpt

We recently implicated two recurrent somatic mutations in an adrenal potassium channel, KCNJ5, as a cause of aldosterone-producing adrenal adenomas (APAs) and one inherited KCNJ5 mutation in a Mendelian form of early severe hypertension with massive adrenal hyperplasia. The mutations identified all altered the channel selectivity filter, producing increased Na(+) conductance and membrane depolarization, the...

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Cell Line
G Protein-Coupled Inwardly-Rectifying Potassium Channels
KCNJ5 gene
Hormonal Regulation and Hypertension

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ion Transport and Channel Regulation

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PMID: 22308486
DOI: 10.1073/pnas.1121407109
PMCID: PMC3289329

Genes

KCNJ5

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