Associated Papers
A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.
Yang L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Noncanonical role of astrocytic mitochondrial Cx43: suppressing IDH3α to sustain glycolytic homeostasis against depression.
Ye J et al.
Cell Death & Disease, 2025
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
GJA1 depletion causes ciliary defects by affecting Rab11 trafficking to the ciliary base.
Jang DG et al.
Elife, 2022
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
HepaCAM controls astrocyte self-organization and coupling.
Baldwin KT et al.
Neuron, 2021
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
Myocardial infarction affects Cx43 content of extracellular vesicles secreted by cardiomyocytes.
Martins-Marques T et al.
Life Science Alliance, 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
Wnt-PLC-IP3-Connexin-Ca2+ axis maintains ependymal motile cilia in zebrafish spinal cord.
Zhang J et al.
Nature Communications, 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
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Gap junction and hemichannel-independent actions of connexins on cell and tissue functions--an update.
Zhou JZ et al.
Febs Letters, 2014
Syndromic and non-syndromic disease-linked Cx43 mutations.
Laird DW
Febs Letters, 2014
Mutations of Cx43 that affect B cell spreading in response to BCR signaling.
Falk L et al.
Biology Open, 2014
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
Izumi K et al.
American Journal of Medical Genetics. Part A, 2013
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
De Bock M et al.
Frontiers in Pharmacology, 2013
A dominant negative Cx43 mutant differentially affects tumorigenic and invasive properties in human metastatic melanoma cells.
Zucker SN et al.
Journal of Cellular Physiology, 2013
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
Cytoplasmic amino acids within the membrane interface region influence connexin oligomerization.
Smith TD 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
A functional channel is necessary for growth suppression by Cx37.
Good ME et al.
Journal of Cell Science, 2011
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA et al.
Human Mutation, 2009
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.
van Es RJ et al.
International Journal of Oral and Maxillofacial Surgery, 2007
Mutation of a conserved threonine in the third transmembrane helix of alpha- and beta-connexins creates a dominant-negative closed gap junction channel.
Beahm DL et al.
The Journal of Biological Chemistry, 2006