Associated Papers
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
Structure of the connexin-43 gap junction channel in a putative closed state.
Qi C et al.
Elife, 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
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease.
Cocozzelli AG et al.
International Journal of Molecular Sciences, 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
Human diseases associated with connexin mutations.
Srinivas M et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
Kelly JJ et al.
Molecular Biology of the Cell, 2016
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.
Shuja Z et al.
The Journal of Investigative Dermatology, 2016
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
Wang H et al.
Human Molecular Genetics, 2015
[Palmoplantar keratoderma syndromes: new findings].
Dereure O
Annales De Dermatologie Et De Venereologie, 2015
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
Wang H et al.
Human Molecular Genetics, 2015
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 2015