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Article

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.

Experimental & molecular medicine - 1 Jul 2021

Lee Sang-Yeon, Choi Hyun Been, Park Mina, Choi Il Soon, An Jieun, Kim Ami, Kim Eunku, Kim Nahyun, Han Jin Hee, Kim Min Young, Lee Seung Min, Oh Doo-Yi, Kim Bong Jik, Yi Nayoung, Kim Nayoung K D, Lee Chung, Park Woong-Yang, Koh Young Ik, Gee Heon Yung, Cho Hyun Sung, Kang Tong Mook, Choi Byung Yoon

Abstract excerpt

Loss-of-function variant in the gene encoding the KCNQ4 potassium channel causes autosomal dominant nonsyndromic hearing loss (DFNA2), and no effective pharmacotherapeutics have been developed to reverse channel activity impairment. Phosphatidylinositol 4,5-bisphosphate (PIP2), an obligatory phospholipid for maintaining KCNQ channel activity, confers differential pharmacological sensitivity of channels to KCNQ...

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Source

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Identifiers

PMID: 34316018
DOI: 10.1038/s12276-021-00653-4
PMCID: PMC8333092

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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