human GJB3 protein

08/01/2014 - "In a recent study, we have identified a missense mutation, p.V174M, in the connexin 31 encoded by the GJB3 gene, in a patient with nonsyndromic hearing loss. "
06/01/2004 - "To study the relation between hereditary nonsyndromic hearing impairment (NSHI) in Chinese and mutation in Connexin 31 (Cx31) gene and to explore the pathogenic mechanism. "

11/01/2015 - "Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis (EKV). "
04/01/2012 - "A case of erythrokeratodermia variabilis with connexin 31 gene mutation (Cx31F137L)."
01/01/2012 - "Mutations in Connexin-31 (Cx31) are associated with multiple human diseases including erythrokeratodermia variabilis (EKV). "
03/01/2004 - "A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis."
12/15/2003 - "We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30.3), as causally involved in erythrokeratodermia variabilis (EKV), a mostly autosomal dominant disorder of keratinization. "

10/01/2010 - "Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants."
02/01/2003 - "Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment."
04/15/2001 - "Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment."
02/01/2003 - "Mutations in GJB3, the gene encoding the gap junction protein Connexin 31 (CX31), have been pathogenically linked to erythrokeratodermia and non-syndromic autosomal dominant (DFNA2) or recessive hereditary hearing impairment (HHI). "
01/01/2022 - "In clinic, mutations of connexin 31 have been revealed as the cause of a rare hereditary skin disease called erythrokeratodermia variabilis (EKV) and non-syndromic hearing loss (NSHL). "

03/28/2006 - "Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness."
08/01/2004 - "Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria."
12/28/2001 - "Connexin 31(Cx31) is one of the human genetic deafness disease genes. "
04/15/2001 - "Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis. "
01/01/2001 - "R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?"

08/15/2002 - "Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations."
01/01/2001 - "R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?"
12/01/1999 - "We report a missense mutation in the gap junction protein beta-3 (encoding Connexin 31), which was detected in only the affected members of a family in which the autosomal dominant skin disease erythrokeratoderma variabilis was segregating. "
01/01/2022 - "In clinic, mutations of connexin 31 have been revealed as the cause of a rare hereditary skin disease called erythrokeratodermia variabilis (EKV) and non-syndromic hearing loss (NSHL). "
08/15/2002 - "Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease erythrokeratoderma variabilis (EKV) or sensorineural hearing loss with/without peripheral neuropathy. "