Associated Papers
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.
Zhang X et al.
Experimental Dermatology, 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
Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation.
Imura K et al.
The Journal of Dermatology, 2020
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
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 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
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Liu H et al.
The Journal of Dermatology, 2012
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.
Glatz M et al.
Acta Dermato-venereologica, 2011
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
Laird DW
The Journal of Biological Chemistry, 2008
The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).
Schnichels M et al.
Human Molecular Genetics, 2007
Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.
He LQ et al.
Acta Biochimica Et Biophysica Sinica, 2005
Gap junction diseases of the skin.
van Steensel MA
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2004
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.
Plantard L et al.
Human Molecular Genetics, 2003
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.
Brown CW et al.
The Journal of Investigative Dermatology, 2003
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
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
Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R et al.
Trends in Molecular Medicine, 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
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
Macari F et al.
American Journal of Human Genetics, 2000
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
Richard G et al.
Human Genetics, 2000
[Ectrodactyly, ectodermal dysplasia, cleft lip and palate syndrome (EEC syndrome)].
Ostorharics-Horváth G et al.
Orvosi Hetilap, 1989
[The EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip and palate)].
Parent P et al.
Annales De Pediatrie, 1987
[EEC syndrome: ectrodactyly, ectodermal dysplasia and cleft lip-palate (author's transl)].
Pérez-González J et al.
Anales Espanoles De Pediatria, 1978
[Association of ectodermal dysplasia, ectrodactyly and cleft lip-palate: the EEC syndrome].
Romagnoli G et al.
Pathologica, 0