Associated Papers
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
Bailey RA et al.
International Journal of Molecular Sciences, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.
Zhao ZH et al.
Molecular Medicine Reports, 2019
Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.
Carrer A et al.
Human Molecular Genetics, 2018
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
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26.
Zonta F et al.
Frontiers in Physiology, 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 Charcot-Marie-Tooth disease.
Scherer SS et al.
Journal of the Peripheral Nervous System : Jpns, 2012
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.
Bartsch O et al.
Audiology & Neuro-otology, 2010
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
Primignani P et al.
Genetic Testing and Molecular Biomarkers, 2009
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 2009
Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
Baker SK et al.
Muscle & Nerve, 2008
Site-directed mutagenesis reveals putative regions of protein interaction within the transmembrane domains of connexins.
Toloue MM et al.
Cell Communication & Adhesion, 2008
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
Samanich J et al.
American Journal of Medical Genetics. Part A, 2007
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
Pathogenetic role of the deafness-related M34T mutation of Cx26.
Bicego M et al.
Human Molecular Genetics, 2006
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
Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.
Oshima A et al.
The Journal of Biological Chemistry, 2003
Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
Yum SW et al.
Neurobiology of Disease, 2002
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Janecke AR et al.
Human Genetics, 2002
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
Thönnissen E et al.
Human Genetics, 2002
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002
The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.
Dubourg O et al.
Neuromuscular Disorders : Nmd, 2001
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
Houseman MJ et al.
Journal of Medical Genetics, 2001
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
Lin D et al.
Human Mutation, 2001
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
Prasad S et al.
Human Mutation, 2000
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Meuleman J et al.
Acta Neurologica Belgica, 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
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES et al.
American Journal of Medical Genetics, 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
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
Nelis E et al.
Neurogenetics, 1999
Common themes in peripheral neuropathy disease genes.
Snipes GJ et al.
Cell Biology International, 1998
Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.
Ainsworth PJ et al.
Human Genetics, 1998
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
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM et al.
American Journal of Human Genetics, 1998
Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease.
Oh S et al.
Neuron, 1997
A comment on the analysis of families with prelinqual deafness.
Kimberling S et al.
American Journal of Human Genetics, 1989
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Wu BL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0