Associated Papers
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43.
Wong RS et al.
American Journal of Physiology. Cell Physiology, 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
Role of Connexin 43 phosphorylation on Serine-368 by PKC in cardiac function and disease.
Pun R et al.
Frontiers in Cardiovascular Medicine, 2022
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
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease.
Cocozzelli AG et al.
International Journal of Molecular Sciences, 2019
Association of Cx43 rs2071166 polymorphism with an increased risk for atrial septal defect.
Gu R et al.
Cardiology in the Young, 2018
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Death of Neurons following Injury Requires Conductive Neuronal Gap Junction Channels but Not a Specific Connexin.
Fontes JD et al.
Plos One, 2015
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
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
Izumi K et al.
American Journal of Medical Genetics. Part A, 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
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
Shao Q et al.
Molecular Biology of the Cell, 2012
The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation.
Churko JM et al.
Experimental Dermatology, 2012
The effect of connexin43 on the level of vascular endothelial growth factor in human retinal pigment epithelial cells.
Pocrnich CE et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2012
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.
Furuta N et al.
Internal Medicine (tokyo, Japan), 2012
Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models.
Huang GY et al.
Journal of Cardiovascular Disease Research, 2011
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.
Churko JM et al.
Human Mutation, 2011
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants.
Churko JM et al.
The Biochemical Journal, 2010
Connexin-caused genetic diseases and corresponding mouse models.
Dobrowolski R et al.
Antioxidants & Redox Signaling, 2009
Fate of connexin43 in cardiac tissue harbouring a disease-linked connexin43 mutant.
Manias JL et al.
Cardiovascular Research, 2008
Novel mutations in GJA1 cause oculodentodigital syndrome.
Fenwick A et al.
Journal of Dental Research, 2008
ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation.
McLachlan E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2008
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.
Feller L et al.
American Journal of Medical Genetics. Part A, 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
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Connexin levels regulate keratinocyte differentiation in the epidermis.
Langlois S et al.
The Journal of Biological Chemistry, 2007
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
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.
Richardson RJ et al.
Journal of Medical Genetics, 2006
Life cycle of connexins in health and disease.
Laird DW
The Biochemical Journal, 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
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.
Flenniken AM et al.
Development (cambridge, England), 2005
Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.
Shibayama J et al.
Circulation Research, 2005
Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.
Roscoe W et al.
The Journal of Biological Chemistry, 2005
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA et al.
American Journal of Human Genetics, 2003
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
Debeer P et al.
European Journal of Medical Genetics, 0
Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.
McLachlan E et al.
Cell Communication & Adhesion, 0
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia.
Tong D et al.
Disease Models & Mechanisms, 0