Associated Papers
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Tsai CY et al.
Computational and Structural Biotechnology Journal, 2023
GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana.
Adadey SM et al.
Frontiers in Genetics, 2019
Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.
Albano JMR et al.
Computational Biology and Chemistry, 2018
The genetic basis of deafness in populations of African descent.
Rudman JR et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Secondary structural analysis of the carboxyl-terminal domain from different connexin isoforms.
Spagnol G et al.
Biopolymers, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.
Bosch J et al.
Omics : a Journal of Integrative Biology, 2014
Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.
Lasisi AO et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Mechanism for modulation of gating of connexin26-containing channels by taurine.
Locke D et al.
The Journal of General Physiology, 2011
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.
Kabahuma RI et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels.
Stong BC et al.
The Laryngoscope, 2006
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P et al.
Pediatrics, 2006
Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.
Propst EJ et al.
International Journal of Pediatric Otorhinolaryngology, 2006
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.
Meşe G et al.
Human Genetics, 2004
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 2003
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Hamelmann C et al.
Human Mutation, 2001
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0