Property Summary

NCBI Gene PubMed Count 185
PubMed Score 812.80
PubTator Score 556.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma 1.344 2.7e-06
pancreatic ductal adenocarcinoma liver m... -1.009 3.0e-02
lung cancer 2.200 4.8e-06
subependymal giant cell astrocytoma -1.515 1.3e-02
lung adenocarcinoma 1.200 2.9e-02
ulcerative colitis -1.200 7.9e-06
ovarian cancer 1.500 4.1e-06
pancreatic cancer -1.200 8.2e-03

Protein-protein Interaction (1)

Gene RIF (111)

PMID Text
25771809 Complete loss of connexin32 function is sufficient to produce central nervous system dysfunction with clinical manifestations.
25595958 A novel point mutation in GJB1 was detected, expanding the spectrum of GJB1 mutations known to be associated with CMTX.
25548281 findings suggest that the cytoplasmic tail of Cx32 may be involved in regulating the permeability of gap junctions by regulating their size.
25524707 Transgenic expression of hCx32 in Cx32/Cx47dKO mice resulted in almost complete rescue of behavioral abnormalities in a hypomyelinating leukodystrophy model.
25270527 This study reveals for the first time that Cx43 and Cx32 are down-regulated in keratocystic odontogenic tumours
25206281 Cx32 and Cx43 mRNA expression decreased gradually during H. pylori infection-associated gastric carcinogenesis, and it is associated with hypermethylation of these genes' promoter.
25171777 Blockade of endothelial Cx32 increased tissue factor expression induced by TNF-alpha stimulation and cell-cell interaction via ICAM1. Direct Cx32-mediated interaction modulates TF expression in ECs during vascular inflammation.
24819634 No mutations were found in GJB1 in a cohort of 38 Italian CMT2 patients.
24768312 This study reported four novel mutations, c.191G > A, c.508G > T, c.778A > G and c.300C > G of GJB1 in four Greek families with variable clinical features and mild clinical CNS manifestations in three of them.
24333598 Eendothelial Cx32 positively regulates angiogenesis by enhancing endothelial cell tube formation and cell migration.
24119489 Mutations in connexin 32 gene in patients with chronic rhinosinusitis, including recurrent acute rhinosinusitis, appear to be rare
24078732 This study demonistrated that GJB1 mutation in patient with Charcot-Marie-Tooth disease in spain.
23827825 This study highlights the pathogenic role of the GJB1 5' non-coding region mutations in CMT, and suggests that their identification should be considered for CMT patients without commonly observed mutations.
23773993 Segregation studies of GJB1 p.P58S with Sanger sequencing confirmed the presence of the variant in all affected individuals and one known carrier, and the absence of the variant in unaffected members.
23743332 This study showed that mutation of CJB1 in patient with Charcot-Marie-Tooth disease.
23687377 these results provide a new docking mechanism for the gap junction channels of Cx32 and Cx26, and probably other compatible connexins.
23384994 two different mutations at the same nucleotide position in this Argentinean family represent a finding with a very low probability of occurrence.
23279342 we report a novel connexin 32 (CX32) mutation associated with cognitive impairment and a differential degree of peripheral nerve involvement
23209285 The positive charge at position 75 in Cx32 is required for normal channel function but not for gap junction assembly.
23139176 Together, these findings show that specific types of connexin channels are targets that may be exploited to enhance radiotherapeutic efficacy and to formulate countermeasures to the harmful effects of specific types of ionizing radiation.
23011429 Mutations in GJB1 gene that cause hereditary motor-sensory neuropathy type 1 X are presented in this article.
22944031 Five CX32 gene mutations were detected in 6 CMT families. The male patients tend to have more serious clinical features and their electrophysiological and pathological changes are intermediate.
22771394 Schwann cells and oligodendrocytes express Cx32, and the gap junctions formed by Cx32 play an important role in the homeostasis of myelinated axons--{REVIEW}
22445976 The antineoplastic effect of etoposide is reduced in Hela cells with a decreased gap junction intercellular communication and is enhanced in cells with an increased gap junction intercellular communication mediated by Cx26/Cx32.
22243284 The frequency of mutations in the GJB1 gene in Charcot-Marie-Tooth type 1 patients in the Greek population (4.9%) was similar to frequencies reported in other ethnic populations
22131286 This study demonistrated that Connexin 32 is involved in mitosis and involev Locomotor impediment.
22012769 granulosa cell-tumor cells are characterized by a partial or complete loss of Cx43 expression and expression of Cx32
21918739 two pathogenic mutations in the 5' regulatory sequence of the GJB1 gene (c.-529T>C and -459C>T)
21687945 The influence of Cx32 and the homotypic gap junctional intercellular communication mediated by this Cx on the migration, invasion and intercellular adhesion of transfected HeLa cells, was investigated.
21607969 This family represents a novel mutation in the GJB1 form of CMTX1. The mutation in the amino-terminus has an impact on the electrophysiological characteristics of the disease.
21504505 We describe two families with X-linked inheritance and a phenotype consistent with CMT1X with upstream exon-splicing variant in the non-coding region of GJB1
21478159 Asn(175) of Cx32 is a critical residue for heterotypic docking and functional gap junction channel formation between the Cx32 and Cx26 hemichannels.
21291455 This study suggests differences between CMTX patients with Cx32 mutations and ethnic background.
21104867 We describe the clinical findings and the identification of a novel mutation in GJB1 in a large Han Chinese family with X-linked Charcot-Marie-Tooth disease
21082351 These findings suggest that altered Cx32 expression, a loss of intercellular Cx32 and a gain of intracytoplasmic Cx32 in the form of punctate "dot", plays an important role in the formation of gastric adenocarcinomas.
21036166 Cx32 protects ECs from inflammation by regulating cytokine expression and plays an important role in the maintenance of vascular function
20942588 Genetic analysis revealed that all tested patients from the family carried a novel c.186C>G mutation in the GJB1 gene, resulting in substitution of Serine for Arginine in the first extracellular loop domain of Cx32 protein.
20931524 186 C>G missense mutation in exon 2 of the GJB1 is associated with Charcot-Marie-Tooth disease.
20857133 we report the first cases of X-linked Charcot-Marie-Tooth disease with a novel GJB1 frameshift mutation
20730878 A large Chinese family hadCharcot-Marie-Tooth linked to Xq13.1 caused by an H100Y mutation in the Cx32 gene
20628624 Meta-analysis of gene-disease association. (HuGE Navigator)
20532933 analysis of GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease
20209499 Results suggest that accumulation of cytoplasmic Cx32 should enhance self-renewal of CSC to expand the CSC population in HCC.
20137634 Over-expression of Cx32 and Cx43 was found in samples of hippocampus from epileptic patients.
20133984 There was a lack of membranous distribution of connexins or a shift from moderately membranous immunoreactivity to predominantly cytoplasmic accumulation of CX32 and CX43 in studied colon tumors.
20128140 New mutation in the GJB1 gene Cys179Gly identified; the Cys179Gly mutation segregates with a mild CMT1X phenotype (Charcot-Marie-Tooth type 1X).
20039784 Report six novel mutations p.Met1Arg, p.Leu9Phe, p.Ser17Tyr, p.Val63Phe, p.Val170Ile, and p.Leu212Phe in GJB1 and their phenotypic expression. These mutations affect both intracellular and extracellular parts of the GJB1 protein.
19883623 Studies indicate that 21 different Cxs have been detected and they are generally named according to their approximate molecular mass in Kda, e.g. Cx32, Cx43 and Cx45.
19691535 study found 10 different mutations in 14 Serbian Charcot-Marie-Tooth patients; 6 mutations in GJB1, 3 in MPZ, and 1 in PMP22; five of six GJB1 mutations are reported for the first time & the most frequent one appears to be a founder mutation
19686581 When isolated as gap junction plaques from HeLa cells, connexin isoforms (connexin 32 and connexin 26) are associated with different phospholipids.
19550132 Data show that the positive rates of connexin 32 and 26 in alveolus epithelium were significantly lower than those in cancer tissues.
19523148 Observational study of gene-disease association. (HuGE Navigator)
19448103 Here we present three cases in which the neurophysiology suggested an inflammatory demyelinating neuropathy, but who failed to respond to treatment and were subsequently found to have mutations in GJB1.
19369543 Transgenic mice with the Cx32 Arg75Trp mutation and all mutant animals with Gjb1-null background develop a progressive demyelinating peripheral neuropathy along with central nervous system myelination defects.
19335535 This study found two structural variants (-459C>T and -713G>A) in the 5' non-coding region of a transcript (Ref seq ID: NM_000166) of the GJB1 gene and explored its association with CMTX in two Chinese families.
19297523 Cx43 and Cx32 undergo a multistep conformational maturation process in which folding of connexin monomers within the endoplasmic reticulum is a prerequisite for multisubunit assembly in the trans-Golgi network.
19265674 These findings suggest that vascular ECs express Cx32, which participates in endothelial gap-junction intercellular communication.
19259128 Data show that the CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds.
19259128 Observational study of gene-disease association. (HuGE Navigator)
19062535 Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan
19062535 Observational study of gene-disease association. (HuGE Navigator)
18949782 This is the second reported case of somatic mosaicism, and it highlights the phenotypic diversity among CMTX patients.
18717720 The Ser128Leu mutation in the Cx-32 gene is a novel substitution found in several members of an Italian Charcot-Marie-Tooth family.
18714809 report of 2 brothers who presented with pyramidal weakness, dysarthria, ataxia & bulbar weakness a year apart predating genomic Charcot Marie Tooth disease diagnosis; both boys & their mother were later confirmed to have a V139M mutation in the GJB1gene
18676375 Calmodulin association with connexin32-derived peptides suggests trans-domain interaction in chemical gating of gap junction channels.
18396685 The decreasing expression of connexin Cx32 and Cx43 is obviously correlated with the occurrence, development and metastatic potential of stomach cancers.
18379723 identified 22 mutations in GJB1 in Italian patients with X-linked Charcot-Marie-Tooth disease
18379723 Observational study of gene-disease association. (HuGE Navigator)
18372303 Charge selectivity of the Cx32*43E1 chimeric hemichannel can be determined by the combined actions of charges dispersed over the permeation pathway rather than by a defined region that acts as a charge selectivity filter.
18353664 Cx32 mutants with central nervous system manifestations are retained intracellularly in oligodendrocytes, but do not alter the co-expression of Cx31.3.
18292829 Increased expression of Cx32 in metastases to the lymph nodes might reflect alteration in connexin gene transcription during breast carcinogenesis and finally, it may be a sign of more malignant phenotype of cancerous cells.
18267319 Polarized Caco-2/TC7 cells express significant amounts of Cx26, Cx32 and Cx43.
18058801 results suggest that Cx32 inhibits hypoxia adaptation governed by HIF-2alpha, and this may help to reduce the metastasis of renal cell carcinoma cells
17714866 This studies identified a L89P mutation for the first time in a CMTX1 family in China and an associated response to PMP22 in males.
17646144 Result of DNA sequencing demonstrated that both families with X-linked Charcot-Marie-Tooth disease had a same mutation of 622G-->A, which resulted in a substitution of Glu208Lys.
17620124 Two novel mutations in the connexin32 gene are more severe than the majority of previously described mutations possibly due to the severe structural change of the gap junction they encode.
17569045 Connexin 32 may contribute to the enhancement of vinorelbine-induced cytotoxicity in A549 lung cancer cells.
17565422 we refer to a new aspect of Cx32-dependent functions against cell proliferation, invasion and metastasis in RCC cells, especially in a GJIC-independent manner[review]
17546509 a cross-talk between CFTR and a variety of gap junction channels. Cytoskeletal scaffolding proteins and/or other intermediate cytoplasmic proteins are likely to play a role in CFTR-connexins interaction.
17372902 cytoplasmic Cx32 protein exerts effects favourable for HCC progression, such as invasion and metastasis, once the cells have acquired a malignant phenotype.
17353473 Most GJB1 mutations cause neuropathy by a loss of normal connexin 32 function.
17200131 Observational study of genetic testing. (HuGE Navigator)
17052905 We describe an Italian family with an intermediate CMTX phenotype with late onset. Mutation screening of the GJB1 gene revealed a 9-bp duplication leading to the insertion of three aminoacids.
16790356 In transgenic mice that express the R142W mutation in myelinating Schwann cells, the Arg142Trp mutant protein is aberrantly localized to the Golgi, indicating that it does not traffic properly.
16373087 This study identified a novel substitution T>C in the P2 promoter of GJB1 at position -529, in the SOX10 binding site S2 in a family with X-linked dominant Charcot-Marie-Tooth neuropathy.
16096811 Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
16079393 Cx32 is prenylated, but that prenylation is not required for proper trafficking of Cx32 and perhaps not even for certain aspects of its function, in myelinating Schwann cells.
15947997 A Charcot-Marie-Tooth syndrome in a family with a missense mutation in GJB1.
15704645 The connexin 32 were sparsely distributed In epithelial cells.
15703409 Human Cx32 protein "rescued" the phenotype of cx32-null mice. The transgenic mice have less demyelinated or remyelinated axons than nontransgenic littermates. Loss of Schwann-cell-autonomous expression of Cx32 is sufficient for demyelination in CMT1X.
15685554 Cpmmexom 32 was found intracellularly in activated hepatic stellate cells.
15508871 Nine patients had clinical features of X-linked dominant inheritance and a moderate Charcot-Marie-Tooth neuropathy phenotype showed a G-to-A transition at position -215 of the nerve-specific promoter P2 of the Cx32 gene.
15470753 This study identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp.
15334670 mRNA level correlates with cell differentiation, nd is predictive of postopoperative recurrence in hepatocellular carcinoma.
15006706 10 of 22 CMTX Cx32 mutations studied in the present investigation could lead to the assembly of defective Cx32 gap junctions, which in turn may result in peripheral neuropathy
14960772 molecular genetic analysis of the GJB1 gene in Charcot-Marie-Tooth type X1 disease
14688024 Transgenic mice with the mutant Cx32 gene are more susceptible to diethylnitrosamine-induced hepatocarcinogenesis, developing more liver tumors with shorter latency.
14663144 Mutation (D178Y) that causes an inherited peripheral neuropathy induces a complete Ca2+ deregulation of Cx32 hemichannel activity.
12849984 Data show that connexin 32 (Cx32)-transfected HepG2 cells not only expressed a higher level of Cx32 mRNA, but also showed increased gap junctional intercellular communication.
12775342 A mutation of the Cx32 gene is identified, consisting of a guanine to adenine transition at position 271 (271G-A) in a large Turkish family (N=39) with Charcot-Marie-Tooth disease.
12717835 gap junctional intercellular communication in hepatocellular carcinoma cell lines, and signal transduction mechanism of gap junction genes connexin32, connexin43 in hepatocarcinogenesis.
12542510 These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy.
12536289 G/A transition (Ala40Thr)in a conserved transmembrane region of the connexin-32 gene was also found associated with X-linked Charcot-Marie-Tooth disease
12362307 A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing
12205082 alpha-catenin facilitates trafficking of connexins 32 and 43 to the cell surface and induces gap junction assembly
12111842 Cx32 mutants that are associated with a CNS phenotype do not interact with Cx45, but may instead have other toxic effects in oligodendrocytes.
11891346 Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease
11835375 Observational study of genotype prevalence. (HuGE Navigator)
11545686 Observational study of genetic testing. (HuGE Navigator)
11295246 Observational study of gene-disease association. (HuGE Navigator)
11024208 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFP      1 - 70
ISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVV     71 - 140
FRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVV    141 - 210
YLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRC    211 - 280
SAC                                                                       281 - 283
//

Text Mined References (191)

PMID Year Title
27234031 2016 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
25771809 2015 A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
25595958 2015 A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.
25548281 2015 The carboxyl tail of connexin32 regulates gap junction assembly in human prostate and pancreatic cancer cells.
25524707 2015 Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.
25270527 2015 Down-regulation of connexin43 and connexin32 in keratocystic odontogenic tumours: potential association with clinical features.
25206281 2014 Connexin 32 and 43 promoter methylation in Helicobacter pylori-associated gastric tumorigenesis.
25171777 2014 Endothelial connexin 32 regulates tissue factor expression induced by inflammatory stimulation and direct cell-cell interaction with activated cells.
24819634 2014 Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
24768312 2014 Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.
24333598 2014 Endothelial connexin32 enhances angiogenesis by positively regulating tube formation and cell migration.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24119489 Connexin 32 and 43 mutations: do they play a role in chronic rhinosinusitis?
24078732 2013 Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
23827825 2013 Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.
23773993 2013 Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
23743332 2013 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.
23687377 2013 A mechanism of gap junction docking revealed by functional rescue of a human-disease-linked connexin mutant.
23384994 Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.
23279342 2012 Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
23209285 2013 Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.
23139176 2013 Human cell responses to ionizing radiation are differentially affected by the expressed connexins.
23011429 2012 [Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X].
22944031 2012 [Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].
22771394 2012 How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
22445976 2012 [Influence of Cx26/Cx32 gap junction channel on antineoplastic effect of etoposide in Hela cells].
22243284 2011 Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients.
22131286 2012 Connexin 32 is involved in mitosis.
22012769 Connexin expression by human granulosa cell tumors: Identification of connexin 32 as a tumor signature.
21918739 2011 Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.
21687945 Connexin 32 and its derived homotypic gap junctional intercellular communication inhibit the migration and invasion of transfected HeLa cells via enhancement of intercellular adhesion.
21607969 2011 A novel mutation of gap junction protein ? 1 gene in X-linked Charcot-Marie-Tooth disease.
21504505 2011 A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
21478159 2011 Asparagine 175 of connexin32 is a critical residue for docking and forming functional heterotypic gap junction channels with connexin26.
21291455 2012 X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
21104867 2010 A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.
21082351 2011 Altered expression and localization of connexin32 in human and murine gastric carcinogenesis.
21036166 2011 Connexin32 protects against vascular inflammation by modulating inflammatory cytokine expression by endothelial cells.
20942588 2010 Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.
20931524 2010 [A new mutation in the GJB1 gene of a Chinese family with Charcot-Marie-Tooth disease associated with vocal cord paresis].
20857133 2011 A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.
20730878 2010 Mutation in connexin 32 causes Charcot-Marie-Tooth disease in a large Chinese family.
20628624 2010 Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
20532933 2010 GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
20209499 2011 Cytoplasmic accumulation of connexin32 expands cancer stem cell population in human HuH7 hepatoma cells by enhancing its self-renewal.
20137634 2009 [Expression and function of Cx32 and Cx43 junctions in medically intractable temporal lobe epilepsy in human].
20133984 Gradual loss of functional gap junction within progression of colorectal cancer -- a shift from membranous CX32 and CX43 expression to cytoplasmic pattern during colorectal carcinogenesis.
20128140 2009 Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.
20039784 2010 Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.
19883623 2010 Connexin-based signaling in acute myelogenous leukemia (AML).
19691535 2009 Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.
19686581 2009 Connexin channels and phospholipids: association and modulation.
19550132 2009 Expressions of connexin 32 and 26 and their correlation to prognosis of non-small cell lung cancer.
19523148 2009 Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss.
19448103 2009 GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment.
19369543 2009 Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.
19335535 2009 -459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy.
19297523 2009 Conformational maturation and post-ER multisubunit assembly of gap junction proteins.
19265674 2009 Connexin32 is expressed in vascular endothelial cells and participates in gap-junction intercellular communication.
19259128 2009 Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
19062535 2008 [Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].
18949782 2008 Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
18717720 2008 Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.
18714809 2008 A V139M mutation also causes the reversible CNS phenotype in CMTX.
18676375 2008 Calmodulin association with connexin32-derived peptides suggests trans-domain interaction in chemical gating of gap junction channels.
18396685 2007 [Decreased expression of Cx32 and Cx43 and their function of gap junction intercellular communication in gastric cancer].
18379723 2008 Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
18372303 2008 Charges dispersed over the permeation pathway determine the charge selectivity and conductance of a Cx32 chimeric hemichannel.
18353664 2008 Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.
18292829 2007 Increased expression of gap junction protein--connexin 32 in lymph node metastases of human ductal breast cancer.
18267319 2008 Extracellular-loop peptide antibodies reveal a predominant hemichannel organization of connexins in polarized intestinal cells.
18058801 2008 The inhibitory effect of connexin 32 gene on metastasis in renal cell carcinoma.
17714866 2007 Study of antibodies to PMP22, IL-6 and TNF-alpha concentrations in serum in a CMTX1 family.
17646144 2007 [The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease].
17620124 2007 Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.
17569045 2007 Enhancing effect of connexin 32 gene on vinorelbine-induced cytotoxicity in A549 lung adenocarcinoma cells.
17565422 2007 Regulation of renal cell carcinoma cell proliferation, invasion and metastasis by connexin 32 gene.
17546509 2006 Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes.
17372902 2007 Cytoplasmic accumulation of connexin32 protein enhances motility and metastatic ability of human hepatoma cells in vitro and in vivo.
17353473 2007 CMT1X phenotypes represent loss of GJB1 gene function.
17200131 2007 Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.
17052905 2006 A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
16790356 2006 The effects of a dominant connexin32 mutant in myelinating Schwann cells.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16373087 2006 Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16096811 2006 Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
16079393 2005 Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.
15947997 2005 Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
15852376 2005 Severe neuropathy with leaky connexin32 hemichannels.
15782139 2005 Connexin32 as a tumor suppressor gene in a metastatic renal cell carcinoma cell line.
15704645 2004 Expression of connexins 26, 32 and 43 in the human colon--an immunohistochemical study.
15703409 2005 Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.
15685554 2005 Intercellular communication via gap junctions in activated rat hepatic stellate cells.
15508871 2004 Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15470753 2004 Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.
15468313 2005 X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
15383278 2004 A Calpha model for the transmembrane alpha helices of gap junction intercellular channels.
15334670 2004 Are gap junction gene connexins 26, 32 and 43 of prognostic values in hepatocellular carcinoma? A prospective study.
15241803 2004 Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
15006706 2004 Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
14960772 2004 Molecular genetic analysis of the GJB1 gene: a study of six mutations.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14688024 2004 Delayed liver regeneration and increased susceptibility to chemical hepatocarcinogenesis in transgenic mice expressing a dominant-negative mutant of connexin32 only in the liver.
14663144 2003 Molecular basis of calcium regulation in connexin-32 hemichannels.
14627639 2003 Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
12849984 2003 A novel function of connexin 32: marked enhancement of liver function in a hepatoma cell line.
12775342 2003 Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.
12717835 2003 Signal transduction of gap junctional genes, connexin32, connexin43 in human hepatocarcinogenesis.
12707076 2003 Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
12542510 2003 Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.
12536289 2002 X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
12497641 2003 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12477701 2003 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.
12460545 2002 Diverse trafficking abnormalities of connexin32 mutants causing CMTX.
12402337 2002 Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
12362307 2002 [A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].
12325071 2002 Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
12207932 2002 Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
12205082 2002 Impaired trafficking of connexins in androgen-independent human prostate cancer cell lines and its mitigation by alpha-catenin.
12185164 2002 Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
11891346 2002 Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.
11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
11723288 2001 Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene.
11571214 2001 Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
11562788 2001 Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
11545686 Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
11438991 2001 Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
11437164 2001 Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
11393532 2001 Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
11295246 2001 A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.
11180613 2001 A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
11140841 2000 Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
11031247 2000 Secretory protein trafficking and organelle dynamics in living cells.
11030070 2000 A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
11024208 2000 A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients.
10938190 2000 A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
10923043 2000 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.
10894999 2000 Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.
10873293 1998 X-linked Charcot-Marie-Tooth disease and connexin32.
10852921 2000 Calmodulin directly gates gap junction channels.
10737979 2000 Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
10732813 1997 Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
10586284 1999 HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience.
10581193 1999 Induction of tight junctions in human connexin 32 (hCx32)-transfected mouse hepatocytes: connexin 32 interacts with occludin.
10234007 1999 Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
10220155 1999 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.
10071100 1999 Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
9888385 1999 Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
9856562 1998 Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
9818870 1998 Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
9592087 1998 Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.
9469569 1998 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.
9452099 1998 Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
9452025 1998 A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.
9401007 1997 Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
9361298 1997 Connexin32 and X-linked Charcot-Marie-Tooth disease.
9272161 1997 Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
9187667 1997 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.
9184217 1997 Cell-free synthesis and assembly of connexins into functional gap junction membrane channels.
9099841 1997 Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
9018031 1997 New mutations in the X-linked form of Charcot-Marie-Tooth disease.
8990008 1997 Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
8956046 1996 A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
8889588 1996 Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8842374 1996 The human connexin32 gene is transcribed from two tissue-specific promoters.
8829637 1996 Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
8807343 1996 Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
8757034 1996 Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
8737658 1996 Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
8733054 1996 Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
8698335 1996 X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
8628473 1996 Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
8567789 1995 Expression of gap junction connexins in the human endometrium throughout the menstrual cycle.
8390988 1993 Phosphorylation of connexin-32 by protein kinase C prevents its proteolysis by mu-calpain and m-calpain.
8266101 1993 Connexin mutations in X-linked Charcot-Marie-Tooth disease.
8162049 1994 Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
8004109 1994 Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
7833935 1994 X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
7477983 1995 New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
2875078 1986 Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein.
2460334 1988 Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations.
1674715 1991 X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region.
1319395 1992 Refined localization of human connexin32 gene locus, GJB1, to Xq13.1.
1318266 1992 Expression of Cx26, Cx32 and Cx43 gap junction proteins in normal and neoplastic human tissues.
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