Associated Papers
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D 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
Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.
Wang Z et al.
Ophthalmic Genetics, 2019
Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin.
Banerji R et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2016
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
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 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
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
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
Vitiello C et al.
American Journal of Medical Genetics. Part A, 2005
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
Richardson R et al.
Journal of Medical Genetics, 2004