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
Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.
Sbidian E et al.
Acta Dermato-venereologica, 2013
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
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