Associated Papers
The evolving genetic landscape of ILVEN: A comprehensive review.
Aghajani M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2026
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
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.
Zong YJ et al.
International Journal of Molecular Sciences, 2023
Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.
Crouthamel OE et al.
International Journal of Molecular Sciences, 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
Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.
Li C et al.
Molecular Genetics & Genomic Medicine, 2019
Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation.
Bursztejn AC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019
Connexin43 mutations linked to skin disease have augmented hemichannel activity.
Srinivas M et al.
Scientific Reports, 2019
A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive.
Guo BR et al.
Chinese Medical Journal, 2019
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
Boyden LM et al.
The Journal of Investigative Dermatology, 2015