Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
The amino terminal domain plays an important role in transjunctional voltage-dependent gating kinetics of Cx45 gap junctions.
Santos-Miranda A et al.
Journal of Molecular and Cellular Cardiology, 2020
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
Barashkov NA et al.
Journal of Human Genetics, 2011
Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50.
Peracchia C et al.
American Journal of Physiology. Cell Physiology, 2005
Opposite Cx32 and Cx26 voltage-gating response to CO2 reflects opposite voltage-gating polarity.
Young KC et al.
The Journal of Membrane Biology, 2004
Maternally inherited deafness associated with a T1095C mutation in the mDNA.
Tessa A et al.
European Journal of Human Genetics : Ejhg, 2001
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