Associated Papers
Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.
Lucaciu SA et al.
The Journal of Physiology, 2025
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43.
Wong RS et al.
American Journal of Physiology. Cell Physiology, 2024
Role of Cx43 on the Bone Cell Generation, Function, and Survival.
Plotkin LI et al.
Bioelectricity, 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
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Crucial Roles of microRNA-16-5p and microRNA-27b-3p in Ameloblast Differentiation Through Regulation of Genes Associated With Amelogenesis Imperfecta.
Suzuki A et al.
Frontiers in Genetics, 2022
Role of Connexin 43 phosphorylation on Serine-368 by PKC in cardiac function and disease.
Pun R et al.
Frontiers in Cardiovascular Medicine, 2022
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
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
Astrocytic Connexin43 Channels as Candidate Targets in Epilepsy Treatment.
Walrave L et al.
Biomolecules, 2020
Calmodulin Directly Interacts with the Cx43 Carboxyl-Terminus and Cytoplasmic Loop Containing Three ODDD-Linked Mutants (M147T, R148Q, and T154A) that Retain α-Helical Structure, but Exhibit Loss-of-Function and Cellular Trafficking Defects.
Zheng L et al.
Biomolecules, 2020
Effects of reduced connexin43 function on skull development in the Cx43I130T/+ mutant mouse that models oculodentodigital dysplasia.
Jarvis SE et al.
Bone, 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
Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.
Sargiannidou I et al.
Frontiers in Genetics, 2020
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease.
Cocozzelli AG et al.
International Journal of Molecular Sciences, 2019
Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis.
Taki T et al.
Acta Dermato-venereologica, 2019
Connexin43 regulates osteoprotegerin expression via ERK1/2 -dependent recruitment of Sp1.
Gupta A et al.
Biochemical and Biophysical Research Communications, 2019
Connexin43, but not connexin30, contributes to adult neurogenesis in the dentate gyrus.
Zhang J et al.
Brain Research Bulletin, 2018
The connexin 46 mutant (V44M) impairs gap junction function causing congenital cataract.
Chen L et al.
Journal of Genetics, 2017
Abrogation of Gap Junctional Communication in ES Cells Results in a Disruption of Primitive Endoderm Formation in Embryoid Bodies.
Wörsdörfer P et al.
Stem Cells (dayton, Ohio), 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
Connexins in skeletal muscle development and disease.
Merrifield PA et al.
Seminars in Cell & Developmental Biology, 2016
Connexins in the skeleton.
Stains JP et al.
Seminars in Cell & Developmental Biology, 2016
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia.
Wittlieb-Weber CA et al.
Heartrhythm Case Reports, 2016
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
Esseltine JL et al.
The Biochemical Journal, 2015
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Advances in the Molecular Genetics of Non-syndromic Syndactyly.
Deng H et al.
Current Genomics, 2015
Up-regulation of BMP2/4 signaling increases both osteoblast-specific marker expression and bone marrow adipogenesis in Gja1Jrt/+ stromal cell cultures.
Zappitelli T et al.
Molecular Biology of the Cell, 2015
Connexin 43 channels are essential for normal bone structure and osteocyte viability.
Xu H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Human Connexin43E42K mutation from a sudden infant death victim leads to impaired ventricular activation and neonatal death in mice.
Lübkemeier I et al.
Circulation. Cardiovascular Genetics, 2015
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
Wang H et al.
Human Molecular Genetics, 2015
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 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
Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.
Bai D
Febs Letters, 2014
Molecular mechanisms of osteoblast/osteocyte regulation by connexin43.
Stains JP et al.
Calcified Tissue International, 2014
Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.
Sun Y et al.
Plos One, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.
Kozoriz MG et al.
Neuropharmacology, 2013
The G60S connexin 43 mutation activates the osteoblast lineage and results in a resorption-stimulating bone matrix and abrogation of old-age-related bone loss.
Zappitelli T et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
Beyond gap junctions: Connexin43 and bone cell signaling.
Plotkin LI et al.
Bone, 2013
Connexin and pannexin hemichannels in brain glial cells: properties, pharmacology, and roles.
Giaume C et al.
Frontiers in Pharmacology, 2013
Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell death.
Ren Q 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
The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation.
Churko JM et al.
Experimental Dermatology, 2012