Associated Papers
The genetic and molecular basis of a connexin-linked skin disease.
Lucaciu SA et al.
The Biochemical Journal, 2024
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
Vermeer MCSC et al.
International Journal of Molecular Sciences, 2022
Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva.
Lucaciu SA et al.
International Journal of Molecular Sciences, 2022
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease.
Cocozzelli AG et al.
International Journal of Molecular Sciences, 2019
Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.
Li C et al.
Molecular Genetics & Genomic Medicine, 2019
GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population.
Wu Q et al.
Forensic Science International, 2017
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Campuzano O et al.
European Journal of Medical Genetics, 2012
Mutations of connexin43 in fetuses with congenital heart malformations.
Chen P et al.
Chinese Medical Journal, 2005
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