Associated Papers
The genetic and molecular basis of a connexin-linked skin disease.
Lucaciu SA et al.
The Biochemical Journal, 2024
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Cellular mechanisms of connexin-based inherited diseases.
Laird DW et al.
Trends in Cell Biology, 2022
A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.
Gao Y et al.
Frontiers in Genetics, 2022
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
Easton JA et al.
Experimental Dermatology, 2019
Erythrokeratodermia variabilis et progressiva.
Ishida-Yamamoto A
The Journal of Dermatology, 2016
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
Tang C et al.
Human Molecular Genetics, 2015
Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.
Wingard JC et al.
Frontiers in Cellular Neuroscience, 2015
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 2015
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.
Mhaske PV et al.
American Journal of Physiology. Cell Physiology, 2013
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 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
A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis.
Wang ZX et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2011
EKV mutant connexin 31 associated cell death is mediated by ER stress.
Tattersall D et al.
Human Molecular Genetics, 2009
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 2009
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis.
Renner R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2008
Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.
Gabriel H et al.
Human Mutation, 2001
[Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss].
Ke X et al.
Zhonghua Er Bi Yan Hou Ke Za Zhi, 2001