Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L90H
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GJB1

NM_000166.6:p.L90H

Associated Papers

Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.

Qi C et al.

Science Advances, 2023

37647412 (PubMed )
Supplement: sciadv.adh4890_sm.pdf

Squaring the EMC - how promoting membrane protein biogenesis impacts cellular functions and organismal homeostasis.

Volkmar N et al.

Journal of Cell Science, 2020

A network of chaperones prevents and detects failures in membrane protein lipid bilayer integration.

Coelho JPL et al.

Nature Communications, 2019

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

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

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease.

Nicholson SM et al.

Annals of the New York Academy of Sciences, 1999

Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease.

Nicholson SM et al.

Annals of the New York Academy of Sciences, 1999

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

Ressot C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.

Latour P et al.

Neurogenetics, 1997

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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."