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
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Structure and Function of Cochlear Gap Junctions and Implications for the Translation of Cochlear Gene Therapies.
Wu X et al.
Frontiers in Cellular Neuroscience, 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
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
DeMille D et al.
American Journal of Medical Genetics. Part A, 2018
A novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Wang H et al.
Scientific Reports, 2017
Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.
Pavithra A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2017
Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene.
Wong SH et al.
International Journal of Medical Sciences, 2017
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 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
Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
Huang S et al.
Acta Oto-laryngologica, 2013
De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
Huang S et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.
Zhang J et al.
Molecular and Cellular Neurosciences, 2011
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N et al.
American Journal of Medical Genetics. Part A, 2011
Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
Xiao Z et al.
Acta Oto-laryngologica, 2011
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.
Yum SW et al.
Neurobiology of Disease, 2010
A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation.
Arndt S et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2010
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
Choi SY et al.
Human Mutation, 2009
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.
Welch KO et al.
American Journal of Medical Genetics. Part A, 2007
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
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.
Palmada M et al.
Neurobiology of Disease, 2006
In vivo and in vitro expression of connexins in the human corneal epithelium.
Shurman DL et al.
Investigative Ophthalmology & Visual Science, 2005
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
Richard G et al.
The Journal of Investigative Dermatology, 2004
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
Marziano NK et al.
Human Molecular Genetics, 2003
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 2003
[Defective gap junctions: variability of the phenotype exemplified by connexin 26 mutations].
Krutmann J et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2002
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Richard G et al.
American Journal of Human Genetics, 2002
[Study of a mutation in connexin 26 gene associated with congenital sensorineural deafness].
Wang P et al.
Lin Chuang Er Bi Yan Hou Ke Za Zhi = Journal of Clinical Otorhinolaryngology, 2001
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.
Tekin M et al.
Clinical Genetics, 2001
[Hereditary hearing loss due to mutations in the connexin-26 gene].
Weigell-Weber M et al.
Schweizerische Medizinische Wochenschrift, 2000
Connexins and gap junctions in the inner ear.
Forge A et al.
Audiology & Neuro-otology, 0
The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30.
Forge A et al.
Cell Communication & Adhesion, 0
Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
Bousfiha A et al.
Current Research in Translational Medicine, 0