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
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Cx31.1 can selectively intermix with co-expressed connexins to facilitate its assembly into gap junctions.
Leighton SE et al.
Journal of Cell Science, 2024
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
Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.
Zhang X et al.
Experimental Dermatology, 2022
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
Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.
de Oliveira RTG et al.
International Journal of Dermatology, 2020
Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family?
Yoshikata-Isokawa Y et al.
The Journal of Dermatology, 2016
Generalized pustular psoriasis associated with Turner syndrome and dilated cardiomyopathy.
Ito M et al.
The Journal of Dermatology, 2016
No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum.
Zhou F et al.
International Journal of Dermatology, 2014
Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.
Sbidian E et al.
Acta Dermato-venereologica, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
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
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.
van Steensel MA et al.
American Journal of Medical Genetics. Part A, 2009
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
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
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
Lazic T et al.
Pediatric Dermatology, 0