Associated Papers
Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.
Lucaciu SA et al.
The Journal of Physiology, 2025
The genetic and molecular basis of a connexin-linked skin disease.
Lucaciu SA et al.
The Biochemical Journal, 2024
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
GJB4 variants linked to skin disease exhibit a trafficking deficiency en route to gap junction formation that can be restored by co-expression of select connexins.
Lucaciu SA et al.
Frontiers in Cell and Developmental Biology, 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
Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation.
Shah M et al.
Skin Health and Disease, 2021
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 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
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
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J et al.
Annals of Human Genetics, 2018
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
Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.
Levit NA et al.
Pharmacological Research, 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
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 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
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.
Mhaske PV et al.
American Journal of Physiology. Cell Physiology, 2013
Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation.
Ikeya S et al.
The Journal of Dermatology, 2013
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.
Xu J et al.
Biochimica Et Biophysica Acta, 2013
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.
Chi J et al.
Plos One, 2012
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.
Glatz M et al.
Acta Dermato-venereologica, 2011
Key functions for gap junctions in skin and hearing.
Scott CA et al.
The Biochemical Journal, 2011
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
EKV mutant connexin 31 associated cell death is mediated by ER stress.
Tattersall D et al.
Human Molecular Genetics, 2009
Gap junctions: basic structure and function.
Meşe G et al.
The Journal of Investigative Dermatology, 2007
Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
Unsworth HC 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
[Mutation analysis of gene CX31.1 in the hereditary hearing loss pedigrees].
Feng Y et al.
Lin Chuang Er Bi Yan Hou Ke Za Zhi = Journal of Clinical Otorhinolaryngology, 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
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
Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R et al.
Trends in Molecular Medicine, 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
[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
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
Richard G et al.
Human Genetics, 2000
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
Wilgoss A et al.
The Journal of Investigative Dermatology, 1999