Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S85C
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GJB1

NM_000166.6:p.S85C

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

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

Mechanisms and Treatments in Demyelinating CMT.

Fridman V et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021

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

Kuang Y et al.

Ebiomedicine, 2020

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.

Da Y et al.

Neurological Research, 2016

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

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

Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.

Sun Y et al.

Plos One, 2014

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

Kleopa KA et al.

Brain Research, 2012

Mutations in connexin genes and disease.

Pfenniger A et al.

European Journal of Clinical Investigation, 2011

Structural studies of the N-terminus of Connexin 32 using 1H NMR spectroscopy.

Kalmatsky BD et al.

Archives of Biochemistry and Biophysics, 2009

Severe neuropathy with leaky connexin32 hemichannels.

Liang GS et al.

Annals of Neurology, 2005

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B et al.

American Journal of Human Genetics, 2004

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

Wang HL et al.

Neurobiology of Disease, 2004

Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.

Abrams CK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002

[The mitochondrial genome and human mitochondrial diseases].

Sukernik RI et al.

Genetika, 2002

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Abrams CK et al.

Brain Research, 2001

The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions.

Ri Y et al.

Biophysical Journal, 1999

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