Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.D178Y
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GJB1

NM_000166.6:p.D178Y

Associated Papers

A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.

Tettey-Matey A et al.

Cell Communication and Signaling : Ccs, 2024

Calcium Regulation of Connexin Hemichannels.

Bayraktar E et al.

International Journal of Molecular Sciences, 2024

A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.

Kuang Y et al.

Ebiomedicine, 2020

Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking.

Bai D et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.

Liu L et al.

Clinical Genetics, 2017

Connexin hemichannel and pannexin channel electrophysiology: how do they differ?

Patel D et al.

Febs Letters, 2014

Extracellular domains play different roles in gap junction formation and docking compatibility.

Bai D 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

Structural basis for the selective permeability of channels made of communicating junction proteins.

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

Regulation of intercellular calcium signaling through calcium interactions with connexin-based channels.

Orellana JA et al.

Advances in Experimental Medicine and Biology, 2012

Asparagine 175 of connexin32 is a critical residue for docking and forming functional heterotypic gap junction channels with connexin26.

Nakagawa S et al.

The Journal of Biological Chemistry, 2011

Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.

Lai A et al.

Journal of Cell Science, 2006

Molecular basis of calcium regulation in connexin-32 hemichannels.

Gómez-Hernández JM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."