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
The E3 ubiquitin ligase ITCH negatively regulates intercellular communication via gap junctions by targeting connexin43 for lysosomal degradation.
Totland MZ et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.
Machado RA et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2023
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
Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.
Moutaoufik MT et al.
Iscience, 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
Structural Studies of the Nedd4 WW Domains and Their Selectivity for the Connexin43 (Cx43) Carboxyl Terminus.
Spagnol G et al.
The Journal of Biological Chemistry, 2016
Cardiomyocyte-specific overexpression of the ubiquitin ligase Wwp1 contributes to reduction in Connexin 43 and arrhythmogenesis.
Basheer WA et al.
Journal of Molecular and Cellular Cardiology, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Role of connexins in human congenital heart disease: the chicken and egg problem.
Salameh A et al.
Frontiers in Pharmacology, 2013
Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Campuzano O et al.
European Journal of Medical Genetics, 2012
Mechanisms of gap junction traffic in health and disease.
Hesketh GG et al.
Journal of Cardiovascular Pharmacology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Mutations of connexin43 in fetuses with congenital heart malformations.
Chen P et al.
Chinese Medical Journal, 2005
A tyrosine-based sorting signal is involved in connexin43 stability and gap junction turnover.
Thomas MA et al.
Journal of Cell Science, 2003