Associated Papers
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 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
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K et al.
Journal of Clinical Laboratory Analysis, 2018
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 2011
Key functions for gap junctions in skin and hearing.
Scott CA et al.
The Biochemical Journal, 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
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 2009
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
Rouan F et al.
Experimental Dermatology, 2003
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
Di WL et al.
Human Molecular Genetics, 2002
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Rouan F et al.
Journal of Cell Science, 2001
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
López-Bigas N et al.
Human Molecular Genetics, 2001
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
Select a paper to view details