Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology-Reference-Cited by-同舟云学术

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Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology

Published:2011-04 Issue:4 Volume:1812 Page:536-543
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Baek Jeong-In,Park Hong-Joon,Park Kyungjoon,Choi Su-Jin,Lee Kyu-Yup,Yi Jee Hyun,Friedman Thomas B.,Drayna Dennis,Shin Ki Soon,Kim Un-Kyung

Funder

Korea government (MEST)

Korea Healthcare Technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference35 articles.

1. K+ cycling and the endocochlear potential;Wangemann;Hear. Res.,2002

2. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness;Kubisch;Cell,1999

3. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel;Wang;Science,1998

4. KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway;Kharkovets;Proc. Natl. Acad. Sci. USA,2000

5. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families;Coucke;N. Engl. J. Med.,1994

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1. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

2. The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants;Biomedicines;2022-09-12

3. A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p. G228D ) from a large Chinese family;Clinical Genetics;2022-05-28

4. Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss;Disease Models & Mechanisms;2021-11-01

5. Progression of KCNQ4 related genetic hearing loss: a narrative review;Journal of Bio-X Research;2021-09-30

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