Associated Papers
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
Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
Li X et al.
Molecular Vision, 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
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
Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family.
Nishat S et al.
Journal of Dermatological Case Reports, 2012
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
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.
Joss SK et al.
European Journal of Pediatrics, 2008
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.
Richardson RJ et al.
Journal of Medical Genetics, 2006