Associated Papers
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Structure of the connexin-43 gap junction channel in a putative closed state.
Qi C et al.
Elife, 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
Astrocytic Connexin43 Channels as Candidate Targets in Epilepsy Treatment.
Walrave L et al.
Biomolecules, 2020
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
Kumar V et al.
Case Reports in Ophthalmological Medicine, 2020
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.
Saint-Val L et al.
Ajnr. American Journal of Neuroradiology, 2019
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 2015
Mutations in cardiovascular connexin genes.
Molica F et al.
Biology of the Cell, 2014
Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.
Sun Y et al.
Plos One, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.
Kozoriz MG et al.
Neuropharmacology, 2013
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
Intracellular cysteine 346 is essentially involved in regulating Panx1 channel activity.
Bunse S et al.
The Journal of Biological Chemistry, 2010
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA et al.
Human Mutation, 2009
Connexin-caused genetic diseases and corresponding mouse models.
Dobrowolski R et al.
Antioxidants & Redox Signaling, 2009
Novel mutations in GJA1 cause oculodentodigital syndrome.
Fenwick A et al.
Journal of Dental Research, 2008
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.
Dobrowolski R et al.
Human Molecular Genetics, 2008
Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels.
Dobrowolski R et al.
The Journal of Membrane Biology, 2007
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
Richardson R et al.
Journal of Medical Genetics, 2004