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
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
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 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
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
Shao Q et al.
Molecular Biology of the Cell, 2012
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.
Furuta N et al.
Internal Medicine (tokyo, Japan), 2012
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation.
Himi M et al.
Japanese Journal of Ophthalmology, 2009
Novel mutations in GJA1 cause oculodentodigital syndrome.
Fenwick A et al.
Journal of Dental Research, 2008
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.
de la Parra DR et al.
Ophthalmic Genetics, 2007
Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T et al.
Clinical Genetics, 2006
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
Richardson R et al.
Journal of Medical Genetics, 2004
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA et al.
American Journal of Human Genetics, 2003
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.
Alao MJ et al.
European Journal of Medical Genetics, 0