Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Tsai CY et al.
Computational and Structural Biotechnology Journal, 2023
38074473 (PubMed )
Supplement: mmc1.docx
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M et al.
Annals of Human Genetics, 2020
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31160754 (PubMed )
Supplement: NIHMS1586971-supplement-Supplementary___Appendix__online_only_material__etc__.docx
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
Koohiyan M et al.
International Journal of Pediatric Otorhinolaryngology, 2018
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26.
Zonta F et al.
Frontiers in Physiology, 2014
Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.
Hashemi SB et al.
Molecular Biology Reports, 2012
Association of GJB2 gene mutation with cochlear implant performance in genetic non-syndromic hearing loss.
Karamert R et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss.
Yilmaz A et al.
Biochemical Genetics, 2010
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.
Taylor RA et al.
Neurology, 2003
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