Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C168Y
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GJB1

NM_000166.6:p.C168Y

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

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Liu X et al.

Frontiers in Neurology, 2020

The role of oligodendrocyte gap junctions in neuroinflammation.

Papaneophytou C et al.

Channels (austin, Tex.), 2019

[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].

Shimizu C et al.

Rinsho Shinkeigaku = Clinical Neurology, 2018

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Abrams CK et al.

Scientific Reports, 2017

Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.

Olympiou M et al.

Acta Neuropathologica Communications, 2016

A Review of X-linked Charcot-Marie-Tooth Disease.

Wang Y et al.

Journal of Child Neurology, 2016

Connexins, gap junctions and peripheral neuropathy.

Kleopa KA et al.

Neuroscience Letters, 2015

How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Kleopa KA et al.

Brain Research, 2012

X-linked Charcot-Marie-Tooth disease.

Scherer SS et al.

Journal of the Peripheral Nervous System : Jpns, 2012

The role of gap junctions in Charcot-Marie-Tooth disease.

Kleopa KA

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

Persistent CNS dysfunction in a boy with CMT1X.

Siskind C et al.

Journal of the Neurological Sciences, 2009

The effects of a dominant connexin32 mutant in myelinating Schwann cells.

Jeng LJ et al.

Molecular and Cellular Neurosciences, 2006

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

Taylor RA et al.

Neurology, 2003

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

Paulson HL et al.

Annals of Neurology, 2002

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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."