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
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies.
Lanciotti A et al.
International Journal of Molecular Sciences, 2021
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 GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.
Sargiannidou I et al.
Frontiers in Genetics, 2020
Connexin43 is Dispensable for Early Stage Human Mesenchymal Stem Cell Adipogenic Differentiation But is Protective against Cell Senescence.
Shao Q et al.
Biomolecules, 2019
Connexin43 Mutant Patient-Derived Induced Pluripotent Stem Cells Exhibit Altered Differentiation Potential.
Esseltine JL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
Kelly JJ et al.
Molecular Biology of the Cell, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
Esseltine JL et al.
The Biochemical Journal, 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
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.
Churko JM et al.
Human Mutation, 2011
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
Connexin43 modulates cell polarity and directional cell migration by regulating microtubule dynamics.
Francis R et al.
Plos One, 2011
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
Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.
Gong XQ et al.
The Journal of Biological Chemistry, 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
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
Vitiello C et al.
American Journal of Medical Genetics. Part A, 2005
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.
Kjaer KW et al.
American Journal of Medical Genetics. Part A, 2004
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA et al.
American Journal of Human Genetics, 2003
Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.
McLachlan E et al.
Cell Communication & Adhesion, 0
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.
Kelly SC et al.
European Journal of Dermatology : Ejd, 0