Associated Papers
Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
Li T et al.
The Biochemical Journal, 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
Mutations of CX46/CX50 and Cataract Development.
Shi Y et al.
Frontiers in Molecular Biosciences, 2022
Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.
Jin A et al.
Frontiers in Cell and Developmental Biology, 2022
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.
Zhang M et al.
Bmc Molecular and Cell Biology, 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
Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.
Abrams CK et al.
American Journal of Physiology. Cell Physiology, 2018
A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.
You G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Connexins in the skeleton.
Stains JP et al.
Seminars in Cell & Developmental 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
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms.
Huang T et al.
Journal of Cell Science, 2013
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
Hu Y et al.
Plos One, 2013
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.
Jiang JX
Current Molecular Medicine, 2010
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.
Jamsheer A et al.
Clinical Genetics, 2010
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
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
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
Vitiello C et al.
American Journal of Medical Genetics. Part A, 2005
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
Pizzuti A et al.
Human Mutation, 2004
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
Debeer P et al.
European Journal of Medical Genetics, 0