Associated Papers
Structure of the connexin-43 gap junction channel in a putative closed state.
Qi C et al.
Elife, 2023
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H 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
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease.
Cocozzelli AG et al.
International Journal of Molecular Sciences, 2019
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
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
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.
Furuta N et al.
Internal Medicine (tokyo, Japan), 2012
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
Novel mutations in GJA1 cause oculodentodigital syndrome.
Fenwick A et al.
Journal of Dental Research, 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
Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T et al.
Clinical Genetics, 2006
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.
Flenniken AM et al.
Development (cambridge, England), 2005
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA et al.
American Journal of Human Genetics, 2003