Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations.
Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein.
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
New mutations in the X-linked form of Charcot-Marie-Tooth disease.
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Connexin32 and X-linked Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.
Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
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Human Cx32 experiments in Xenopus oocytes support assembly of intercellular channels from preformed hemichannels; the tested C-terminal variants differed in assembly efficiency.
"hemichannels are the direct precursors of gap junction channels"
HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience.
Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
X-linked Charcot-Marie-Tooth disease and connexin32.
Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.
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S85C Cx32 showed increased hemichannel opening in Xenopus oocytes despite lower protein abundance. This is variant-specific behavior, not evidence for constitutive wild-type hemichannel opening in vivo.
"this mutant connexin also shows
increased opening of hemichannels"
Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
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Disease-associated Cx32 variants showed diverse intracellular retention and membrane-plaque patterns in expression assays. These mutant distributions do not define normal wild-type compartments.
"many CMTX mutants have trafficking abnormalities"
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
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Wild-type human Cx32 supported intercellular coupling in paired Xenopus oocytes; the V181A variant showed reduced coupling and lower protein abundance.
"coupling between oocytes expressing wild-type human Cx32 (32WT)"
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
A Calpha model for the transmembrane alpha helices of gap junction intercellular channels.
X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Severe neuropathy with leaky connexin32 hemichannels.
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Milk secretion and ejection are impaired in the mammary gland of mice harboring a Cx43 mutant while expression and localization of tight and adherens junction proteins remain unchanged.
Dynamic expression of Cx47 in mouse brain development and in the cuprizone model of myelin plasticity.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
A reference map of the human binary protein interactome.
Connexin oligomerization in endoplasmic reticulum membrane
Oligomerization of connexins into connexons
Transport of connexins along the secretory pathway
Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Combined Automated Annotation using Multiple IEA Methods
UniProtKB P08034 (CXB1_HUMAN): Gap junction beta-1 protein
GJB1 source scope, machine context and preservation evidence