Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
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
Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss.
Hu S et al.
F1000research, 2021
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro.
Cook J et al.
Royal Society Open Science, 2019
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
Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.
Parzefall T 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
The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.
Parzefall T et al.
Acta Oto-laryngologica, 2017
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
Del Castillo FJ et al.
Frontiers in Molecular Neuroscience, 2017
Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro.
de Wolf E et al.
Physiological Reports, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling.
Jagger DJ et al.
Cell and Tissue Research, 2015
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.
Koenighofer M 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, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.
Xu J et al.
Biochimica Et Biophysica Acta, 2013
Targeted connexin26 ablation arrests postnatal development of the organ of Corti.
Wang Y et al.
Biochemical and Biophysical Research Communications, 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
Functional studies reveal new mechanisms for deafness caused by connexin mutations.
Chang Q et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2009
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.
Alemanno MS et al.
International Journal of Pediatric Otorhinolaryngology, 2009
Connexin26 deafness associated mutations show altered permeability to large cationic molecules.
Meşe G et al.
American Journal of Physiology. Cell Physiology, 2008
Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice.
Chang Q et al.
Plos One, 2008
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
Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.
Zhang Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
Frei K et al.
The Laryngoscope, 2005
Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.
Frei K et al.
European Journal of Human Genetics : Ejhg, 2002
Gap junctions and cochlear homeostasis.
Zhao HB et al.
The Journal of Membrane Biology, 0