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
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
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
Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.
Sargiannidou I et al.
Frontiers in Genetics, 2020
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Mutations in cardiovascular connexin genes.
Molica F et al.
Biology of the Cell, 2014
Syndromic and non-syndromic disease-linked Cx43 mutations.
Laird DW
Febs Letters, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I 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
The severity of mammary gland developmental defects is linked to the overall functional status of Cx43 as revealed by genetically modified mice.
Stewart MK et al.
The Biochemical Journal, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.
Furuta N et al.
Internal Medicine (tokyo, Japan), 2012
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
Gap junction disorders of myelinating cells.
Kleopa KA et al.
Reviews in the Neurosciences, 2010
Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.
Chtchetinin J et al.
The Febs Journal, 2009
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA et al.
Human Mutation, 2009
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43).
Musa FU et al.
Eye (london, England), 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
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
Laird DW
The Journal of Biological Chemistry, 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
Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.
Gong XQ et al.
The Journal of Biological Chemistry, 2007
Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T et al.
Clinical Genetics, 2006
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
Lai A et al.
Journal of Cell Science, 2006
Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.
Shibayama J et al.
Circulation Research, 2005
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA et al.
American Journal of Human Genetics, 2003
Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.
McLachlan E et al.
Cell Communication & Adhesion, 0