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
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M et al.
International Journal of Molecular Sciences, 2023
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
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
Bailey RA et al.
International Journal of Molecular Sciences, 2021
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Erythrokeratodermia variabilis et progressiva.
Ishida-Yamamoto A
The Journal of Dermatology, 2016
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
Tang C et al.
Human Molecular Genetics, 2015
The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.
Sugiura K et al.
The British Journal of Dermatology, 2015
Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
Li TC et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.
da Silva-Costa SM et al.
Genetic Testing and Molecular Biomarkers, 2011
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
Fuchs-Telem D et al.
Clinical and Experimental Dermatology, 2011
EKV mutant connexin 31 associated cell death is mediated by ER stress.
Tattersall D et al.
Human Molecular Genetics, 2009
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Gap junctions: basic structure and function.
Meşe G et al.
The Journal of Investigative Dermatology, 2007
Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
Common JE et al.
The Journal of Investigative Dermatology, 2005
Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.
He LQ et al.
Acta Biochimica Et Biophysica Sinica, 2005
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
Morley SM et al.
The British Journal of Dermatology, 2005
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
Richard G et al.
The Journal of Investigative Dermatology, 2003
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
Di WL et al.
Human Molecular Genetics, 2002
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
Gottfried I et al.
Human Molecular Genetics, 2002
[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
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
Lin D et al.
Human Mutation, 2001