Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L56F
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GJB1

NM_000166.6:p.L56F

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

X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.

Butler J et al.

Frontiers in Cellular Neuroscience, 2023

Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking.

Bai D et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Extracellular domains play different roles in gap junction formation and docking compatibility.

Bai D et al.

The Biochemical Journal, 2014

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

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

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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