Associated Papers
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
The amino terminal domain plays an important role in transjunctional voltage-dependent gating kinetics of Cx45 gap junctions.
Santos-Miranda A et al.
Journal of Molecular and Cellular Cardiology, 2020
Specificity of the connexin W3/4 locus for functional gap junction formation.
Xu Q et al.
Channels (austin, Tex.), 2016
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
Kelly JJ et al.
Molecular Biology of the Cell, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
Esseltine JL et al.
The Biochemical Journal, 2015
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 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
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
Shao Q et al.
Molecular Biology of the Cell, 2012
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation.
Churko JM et al.
Experimental Dermatology, 2012
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.
Churko JM et al.
Human Mutation, 2011
Connexin43 modulates cell polarity and directional cell migration by regulating microtubule dynamics.
Francis R et al.
Plos One, 2011
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA et al.
Human Mutation, 2009
Novel mutations in GJA1 cause oculodentodigital syndrome.
Fenwick A et al.
Journal of Dental Research, 2008
Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50.
Peracchia C et al.
American Journal of Physiology. Cell Physiology, 2005