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Article

Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.

Molecular genetics and metabolism - 1 Jan 2012

Pattnaik Bikash R, Asuma Matti P, Spott Ryan, Pillers De-Ann M

Abstract excerpt

Inwardly rectifying potassium (Kir) channels are essential for maintaining normal potassium homeostasis and the resting membrane potential. As a consequence, mutations in Kir channels cause debilitating diseases ranging from cardiac failure to renal, ocular, pancreatic, and neurological abnormalities. Structurally, Kir channels consist of two trans-membrane domains, a pore-forming loop that contains the...

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Identifiers

PMID: 22079268
DOI: 10.1016/j.ymgme.2011.10.004
PMCID: PMC3253982

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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