Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C53S
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GJB1

NM_000166.6:p.C53S

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

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

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

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.

Casasnovas C et al.

Clinical Genetics, 2006

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

Wang HL et al.

Neurobiology of Disease, 2004

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA et al.

Journal of Neuroscience Research, 2002

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.

Martin PE et al.

Journal of Neurochemistry, 2000

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.

Numakura C et al.

Annals of Neurology, 2000

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

Nelis E et al.

Human Mutation, 1999

Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.

Ikegami T et al.

American Journal of Medical Genetics, 1998

Common themes in peripheral neuropathy disease genes.

Snipes GJ et al.

Cell Biology International, 1998

Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.

Yoshimura T et al.

Journal of Neuroscience Research, 1998

Connexin32 and X-linked Charcot-Marie-Tooth disease.

Bone LJ et al.

Neurobiology of Disease, 1997

Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.

Yoshimura T et al.

Human Mutation, 1996

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