Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.
Butler J et al.
Frontiers in Cellular Neuroscience, 2023
Gating of Connexin Channels by transjunctional-voltage: Conformations and models of open and closed states.
Bargiello TA et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Structural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.
Batir Y et al.
Archives of Biochemistry and Biophysics, 2016
Structural studies of the N-terminus of Connexin 32 using 1H NMR spectroscopy.
Kalmatsky BD et al.
Archives of Biochemistry and Biophysics, 2009
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2006
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
Rouan F et al.
Experimental Dermatology, 2003
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Richard G et al.
American Journal of Human Genetics, 2002
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Rouan F et al.
Journal of Cell Science, 2001
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
Altered trafficking of mutant connexin32.
Deschênes SM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1997
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