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
Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.
Kobayashi H et al.
American Journal of Medical Genetics. Part A, 2020
Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.
Moutaoufik MT et al.
Iscience, 2019
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Adenylyl cyclase 6 deletion increases mortality during sustained β-adrenergic receptor stimulation.
Tang T et al.
Journal of Molecular and Cellular Cardiology, 2013
Connexin43 phosphorylation: structural changes and biological effects.
Solan JL et al.
The Biochemical Journal, 2009
Connexin phosphorylation as a regulatory event linked to gap junction channel assembly.
Solan JL et al.
Biochimica Et Biophysica Acta, 2005
Structural changes in the carboxyl terminus of the gap junction protein connexin43 indicates signaling between binding domains for c-Src and zonula occludens-1.
Sorgen PL et al.
The Journal of Biological Chemistry, 2004
Ser364 of connexin43 and the upregulation of gap junction assembly by cAMP.
TenBroek EM et al.
The Journal of Cell Biology, 2001
Does Ser364Pro mutation of connexin 43 exist in Taiwanese patients with Ivemark syndrome?
Chen WC et al.
Zhonghua Yi Xue Za Zhi = Chinese Medical Journal; Free China Ed, 2000
PH regulation of connexin43: molecular analysis of the gating particle.
Ek-Vitorín JF et al.
Biophysical Journal, 1996
Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality.
Britz-Cunningham SH et al.
The New England Journal of Medicine, 1995
The highly conserved Gln49 and Ser50 of mammalian connexin43 are present in chick connexin43 and essential for functional gap junction channels.
Sokolova IV et al.
Cell Communication & Adhesion, 0