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
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
Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation.
Shah M et al.
Skin Health and Disease, 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
Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.
Martin PE et al.
Cell and Tissue Research, 2015
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
Key functions for gap junctions in skin and hearing.
Scott CA et al.
The Biochemical Journal, 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
Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.
Scott CA et al.
Clinical and Experimental Dermatology, 2011
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
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
Morley SM et al.
The British Journal of Dermatology, 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
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
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
López-Bigas N et al.
Human Mutation, 2002
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
Macari F et al.
American Journal of Human Genetics, 2000