The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis-Reference-Cited by-同舟云学术

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The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis

Published:2016-01-09 Issue:3 Volume:135 Page:287-298
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Kim Hui Ram,Oh Se-Kyung,Lee Eun-Shil,Choi Soo-Young,Roh Seung-Eon,Kim Sang Jeong,Tsukihara Tomitake,Lee Kyu-Yup,Jeon Chang-Jin,Kim Un-Kyung

Funder

Korea Health Technology R&D Project, Ministry of Health & Welfare

Bio & Medical Technology Development Program of the NRF, funded by the Ministry of Science, ICT & Future Planning

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-015-1625-7.pdf

Reference50 articles.

1. Antoniadi T, Gronskov K, Sand A, Pampanos A, Brondum-Nielsen K, Petersen MB (2000) Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 16:7–12

2. Brunger AT, Adams PD, Clore GM, DeLano WL, Gros P, Grosse-Kunstleve RW, Jiang JS, Kuszewski J, Nilges M, Pannu NS, Read RJ, Rice LM, Simonson T, Warren GL (1998) Crystallography and NMR system: a new software suite for macromolecular structure determination. Acta Crystallogr D Biol Crystallogr 54:905–921

3. Bruzzone R, White TW, Paul DL (1996) Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 238:1–27

4. Chan DK, Chang KW (2014) GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype. Laryngoscope 124:E34–E53

5. Chan DK, Schrijver I, Chang KW (2010) Connexin-26-associated deafness: phenotypic variability and progression of hearing loss. Genet Med 12:174–181

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1. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains;Biomolecules;2023-10-13

2. Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants;Biology;2023-03-27

3. Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss;Human Genetics;2022-09-01

4. Comprehensive simulation and interpretation of single nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss;2021-10-01

5. DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes;Frontiers in Molecular Neuroscience;2017-12-22

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