Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

doi:10.1038/ng.2716

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Article

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

Nature genetics - 1 Sept 2013

Azizan Elena A B, Poulsen Hanne, Tuluc Petronel, Zhou Junhua, Clausen Michael V, Lieb Andreas, Maniero Carmela, Garg Sumedha, Bochukova Elena G, Zhao Wanfeng, Shaikh Lalarukh Haris, Brighton Cheryl A, Teo Ada E D, Davenport Anthony P, Dekkers Tanja, Tops Bas, Küsters Benno, Ceral Jiri, Yeo Giles S H, Neogi Sudeshna Guha, McFarlane Ian, Rosenfeld Nitzan, Marass Francesco, Hadfield James, Margas Wojciech, Chaggar Kanchan, Solar Miroslav, Deinum Jaap, Dolphin Annette C, Farooqi I Sadaf, Striessnig Joerg, Nissen Poul, Brown Morris J

Abstract excerpt

At least 5% of individuals with hypertension have adrenal aldosterone-producing adenomas (APAs). Gain-of-function mutations in KCNJ5 and apparent loss-of-function mutations in ATP1A1 and ATP2A3 were reported to occur in APAs. We find that KCNJ5 mutations are common in APAs resembling cortisol-sec...

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Identifiers

PMID: 23913004
DOI: 10.1038/ng.2716

Genes

KCNJ5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23913004-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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