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
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
Specificity of the connexin W3/4 locus for functional gap junction formation.
Xu Q et al.
Channels (austin, Tex.), 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
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
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
Núñez L et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2013
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
Shao Q et al.
Molecular Biology of the Cell, 2012
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation.
Himi M et al.
Japanese Journal of Ophthalmology, 2009
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
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.
de la Parra DR et al.
Ophthalmic Genetics, 2007