Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K et al.
Journal of Clinical Laboratory Analysis, 2018
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
Berger AC et al.
Journal of Cell Science, 2014
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
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
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
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
Nemoto-Hasebe I et al.
The British Journal of Dermatology, 2009
In vivo and in vitro expression of connexins in the human corneal epithelium.
Shurman DL et al.
Investigative Ophthalmology & Visual Science, 2005
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
Essenfelder GM et al.
Human Molecular Genetics, 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
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
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
[Hereditary hearing loss due to mutations in the connexin-26 gene].
Weigell-Weber M et al.
Schweizerische Medizinische Wochenschrift, 2000
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