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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
The genetic and molecular basis of a connexin-linked skin disease.
Lucaciu SA et al.
The Biochemical Journal, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
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
Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation.
Shah M et al.
Skin Health and Disease, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
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
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
Morley SM et al.
The British Journal of Dermatology, 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
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