Associated Papers
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
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
Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias.
Li S et al.
Gene, 2024
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
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
Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.
Zong YJ et al.
International Journal of Molecular Sciences, 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
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 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
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
GJB2 Mutations Linked to Hearing Loss Exhibit Differential Trafficking and Functional Defects as Revealed in Cochlear-Relevant Cells.
Beach R et al.
Frontiers in Cell and Developmental Biology, 2020
Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis.
Taki T et al.
Acta Dermato-venereologica, 2019
Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family.
Park DY et al.
Journal of Glaucoma, 2019
Expressional and functional involvement of gap junctions in aqueous humor outflow into the ocular trabecular meshwork of the anterior chamber.
Yu H et al.
Molecular Vision, 2019
Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss.
Abitbol JM et al.
Journal of Cell Science, 2018
The unrecognized role of tumor suppressor genes in atrial fibrillation.
Mao L et al.
Gene, 2018
A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel.
Porntaveetus T et al.
Oral Diseases, 2017
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
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
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
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 2015
Critical Role of Cx40 in Reduced Endothelial Electrical Coupling by Lipopolysaccharide and Hypoxia-Reoxygenation.
Siddiqui M et al.
Journal of Vascular Research, 2015
Mutations in cardiovascular connexin genes.
Molica F et al.
Biology of the Cell, 2014
Cell junctions in the specialized conduction system of the heart.
Mezzano V et al.
Cell Communication & Adhesion, 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
Myogenic bladder defects in mouse models of human oculodentodigital dysplasia.
Huang T et al.
The Biochemical Journal, 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
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
Decidual angiogenesis and placental orientation are altered in mice heterozygous for a dominant loss-of-function Gja1 (connexin43) mutation.
Winterhager E et al.
Biology of Reproduction, 2013
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 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
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
Gap junctions and hemichannels in signal transmission, function and development of bone.
Batra N et al.
Biochimica Et Biophysica Acta, 2012
The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation.
Churko JM et al.
Experimental Dermatology, 2012
Phosphorylation of serine residues in the C-terminal cytoplasmic tail of connexin43 regulates proliferation of ovarian granulosa cells.
Dyce PW 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
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia.
Gregory M et al.
International Journal of Andrology, 2011
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