Associated Papers
Genetic factors underlying Mandibular prognathism: insights from recent human and animal studies.
Fang H et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025
Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.
Fujii Y et al.
Bone Research, 2025
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Role of Cx43 on the Bone Cell Generation, Function, and Survival.
Plotkin LI et al.
Bioelectricity, 2023
Discordant growth of nasal cartilage and bone contributes to phenotypic variability of the skull in a mouse model.
Book SA et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 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
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
Effects of Reduced Connexin43 Function on Mandibular Morphology and Osteogenesis in Mutant Mouse Models of Oculodentodigital Dysplasia.
Moore AC et al.
Calcified Tissue International, 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
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.
Qin L et al.
Scientific Reports, 2018
Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss.
Abitbol JM et al.
Journal of Cell Science, 2018
The connexin 46 mutant (V44M) impairs gap junction function causing congenital cataract.
Chen L et al.
Journal of Genetics, 2017
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.
Shao Q et al.
The Journal of Biological Chemistry, 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
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
Esseltine JL et al.
The Biochemical Journal, 2015
Advances in the Molecular Genetics of Non-syndromic Syndactyly.
Deng H et al.
Current Genomics, 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
Myogenic bladder defects in mouse models of human oculodentodigital dysplasia.
Huang T et al.
The Biochemical Journal, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
Designer gap junctions that prevent cardiac arrhythmias.
Kim E et al.
Trends in Cardiovascular Medicine, 2013
The severity of mammary gland developmental defects is linked to the overall functional status of Cx43 as revealed by genetically modified mice.
Stewart MK et al.
The Biochemical Journal, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 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
Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family.
Nishat S et al.
Journal of Dermatological Case Reports, 2012
Connexin43 cardiac gap junction remodeling: lessons from genetically engineered murine models.
Remo BF et al.
The Journal of Membrane Biology, 2012
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia.
Lorentz R et al.
The Journal of Membrane Biology, 2012
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia.
Churko JM et al.
The Journal of Investigative Dermatology, 2011
Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models.
Huang GY et al.
Journal of Cardiovascular Disease Research, 2011
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia.
Tsui E et al.
Investigative Ophthalmology & Visual Science, 2011
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.
Churko JM et al.
Human Mutation, 2011
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouse.
Tong D et al.
Biology of Reproduction, 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
Gap junction remodeling and spironolactone-dependent reverse remodeling in the hypertrophied heart.
Qu J et al.
Circulation Research, 2009
Connexin-caused genetic diseases and corresponding mouse models.
Dobrowolski R et al.
Antioxidants & Redox Signaling, 2009
Fate of connexin43 in cardiac tissue harbouring a disease-linked connexin43 mutant.
Manias JL et al.
Cardiovascular Research, 2008
Novel mutations in GJA1 cause oculodentodigital syndrome.
Fenwick A et al.
Journal of Dental Research, 2008
Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.
Amador C et al.
Journal of Child Neurology, 2008
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.
Dobrowolski R et al.
Human Molecular Genetics, 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