Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.H94D
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GJB1

NM_000166.6:p.H94D

Associated Papers

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Connexins, gap junctions and peripheral neuropathy.

Kleopa KA et al.

Neuroscience Letters, 2015

GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.

Abrams CK et al.

Cell and Tissue Research, 2015

Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.

Fasciani I et al.

Neuropharmacology, 2013

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

Characterization of the structure and intermolecular interactions between the connexin 32 carboxyl-terminal domain and the protein partners synapse-associated protein 97 and calmodulin.

Stauch K et al.

The Journal of Biological Chemistry, 2012

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

Kim Y et al.

Clinical Genetics, 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

Molecular mechanisms of gap junction mutations in myelinating cells.

Sargiannidou I et al.

Histology and Histopathology, 2010

Gap junction disorders of myelinating cells.

Kleopa KA et al.

Reviews in the Neurosciences, 2010

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

Huang Y et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

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

Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.

Castro C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999

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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."