GJB1

Summary

Gene Symbol: GJB1
Description: gap junction protein beta 1
Alias: CMTX, CMTX1, CX32, gap junction beta-1 protein, GAP junction 28 kDa liver protein, connexin-32, gap junction protein, beta 1, 32kDa
Species: human
Products:     GJB1

Top Publications

  1. Panas M, Kalfakis N, Karadimas C, Vassilopoulos D. Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. Neurology. 2001;57:1906-8 pubmed
    ..Both patients bear the C164T mutation of the connexin 32 gene but no mutations of the genes responsible for hyper- or hypokalemic periodic paralysis...
  2. Peracchia C, Sotkis A, Wang X, Peracchia L, Persechini A. Calmodulin directly gates gap junction channels. J Biol Chem. 2000;275:26220-4 pubmed
    ..the C-terminal pair dramatically increases the chemical gating sensitivity of gap junction channels composed of connexin 32 and decreases their sensitivity to transjunctional voltage...
  3. Dubourg O, Tardieu S, Birouk N, Gouider R, Leger J, Maisonobe T, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain. 2001;124:1958-67 pubmed
    ..X-linked dominant Charcot-Marie-Tooth (CMTX) disease is a motor and sensory neuropathy caused by mutations in the connexin 32 (CX32) gene...
  4. Schubert A, Schubert W, Spray D, Lisanti M. Connexin family members target to lipid raft domains and interact with caveolin-1. Biochemistry. 2002;41:5754-64 pubmed
    ..We also show that other connexins (Cx32, Cx36, and Cx46) are targeted to lipid rafts, while Cx26 and Cx50 are specifically excluded from these membrane ..
  5. Hanemann C, Bergmann C, Senderek J, Zerres K, Sperfeld A. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol. 2003;60:605-9 pubmed
    X-linked hereditary demyelinating neuropathies (Charcot-Marie-Tooth Disease [CMTX]) caused by mutations in the connexin 32 (Cx32) gene account for approximately 10% to 20% of all hereditary demyelinating neuropathies...
  6. Bergoffen J, Scherer S, Wang S, Scott M, Bone L, Paul D, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993;262:2039-42 pubmed
    X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1...
  7. Paulson H, Garbern J, Hoban T, Krajewski K, Lewis R, Fischbeck K, et al. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol. 2002;52:429-34 pubmed
    X-linked Charcot-Marie-Tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32) gene...
  8. Kanczuga Koda L, Koda M, Sulkowski S, Wincewicz A, Zalewski B, Sulkowska M. 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. In Vivo. 2010;24:101-7 pubmed
    The aim of this study was the assessment of expression and location of CX32 and CX43 in colorectal adenomas and carcinomas as well as analysis of expression of these proteins in association with clinical and pathological features of ..
  9. Nualart Marti A, Solsona C, Fields R. Gap junction communication in myelinating glia. Biochim Biophys Acta. 2013;1828:69-78 pubmed publisher
    ..CMTX) and Pelizaeus-Merzbarcher-like disease (PMLD), which are caused by mutations in the genes encoding for connexin 32 and connexin 47 respectively...

More Information

Publications126 found, 100 shown here

  1. Borgulová I, Putzová M, Soldatova I, Stejskal D. Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis. Med Clin (Barc). 2018;150:215-219 pubmed publisher
    ..Leu9Phe in the GJB1 gene...
  2. Liu X, Fan D, Song S. [The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease]. Zhonghua Nei Ke Za Zhi. 2015;54:623-7 pubmed
    ..We found 31(29.5%) PMP22 duplication pedigrees, 8(7.6%) GJB1 mutation pedigrees, 4(3.8%) MFN2 mutation pedigrees, 4(3.8%) HSPB1 mutation pedigrees, 3(2...
  3. Le Bras A, Proisy M, Kuchenbuch M, Gomes C, Tréguier C, Napuri S, et al. Reversible lesions of the corpus callosum with initially restricted diffusion in a series of Caucasian children. Pediatr Radiol. 2018;48:999-1007 pubmed publisher
    ..without febrile illness, a central nervous system manifestation of X-linked Charcot-Marie-Tooth disease with connexin 32 mutation was diagnosed...
  4. Lorefice L, Murru M, Coghe G, Fenu G, Corongiu D, Frau J, et al. Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. Neurol Sci. 2017;38:1019-1025 pubmed publisher
    ..2 was the most frequent genetic diagnosis (60/69; 87%), followed by mutations in the GJB1 gene (5/69; 7.2%), in the SH3TC2 gene (3/69; 4.4%) and PMP22 Gly107Val point mutation (1/69; 1.4%)...
  5. Sun B, Chen Z, Ling L, Yang F, Huang X. Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. J Peripher Nerv Syst. 2017;22:13-18 pubmed publisher
    ..PMP22 duplication was detected in 10 (12%) patients and GJB1 mutations in 9 (11%) patients...
  6. Liu L, Zhang R. Intermediate Charcot-Marie-Tooth disease. Neurosci Bull. 2014;30:999-1009 pubmed publisher
    ..b>GJB1 is currently considered to be associated with X-linked DI-CMT, and MPZ, INF2, DNM2, YARS, GNB4, NEFL, and MFN2 are ..
  7. Kim J, Han S, Kim S. X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report. Medicine (Baltimore). 2017;96:e9176 pubmed publisher
    ..Recently, we encountered a patient who presented with acute disseminated encephalomyelitis (ADEM)-like symptoms, but was later diagnosed as having X-linked CMT (CMTX) due to a mutation.
  8. Zanette G, Fabrizi G, Taioli F, Lauriola M, Badari A, Ferrarini M, et al. Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs. Clin Neurophysiol. 2018;129:2259-2267 pubmed publisher
    ..of nerve HRUS findings in demyelinating CMTs, we recruited patients with CMT1A (N = 44), CMT1B (N = 9), CMTX (N = 8) and CMT4C (N = 4)...
  9. García I, Prado P, Pupo A, Jara O, Rojas Gomez D, Mujica P, et al. Connexinopathies: a structural and functional glimpse. BMC Cell Biol. 2016;17 Suppl 1:17 pubmed publisher
    ..Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50)...
  10. Sandelius Å, Zetterberg H, Blennow K, Adiutori R, Malaspina A, Laura M, et al. Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Neurology. 2018;90:e518-e524 pubmed publisher
    ..were also significantly higher when subdividing patients by genetic subtype (CMT1A, SPTLC1, and GJB1) or into demyelinating or axonal forms compared to healthy controls...
  11. Zhang J, Song S, Pang Q, Zhang R, Wan Y, Yuan D, et al. Hydrogen-rich water protects against acetaminophen-induced hepatotoxicity in mice. World J Gastroenterol. 2015;21:4195-209 pubmed publisher
    ..01, respectively). In addition, HRW could inhibit 4-HNE, nitrotyrosine formation, JNK phosphorylation, connexin 32 and cytochrome P4502E expression...
  12. Ozden S, Turgut Kara N, Sezerman O, Durasi Ä, Chen T, Demirel G, et al. Assessment of global and gene-specific DNA methylation in rat liver and kidney in response to non-genotoxic carcinogen exposure. Toxicol Appl Pharmacol. 2015;289:203-12 pubmed publisher
    ..However, no treatment related effects on the methylation status of Cx32, e-cadherin, VHL, c-myc, Igfbp2, and p15 were observed...
  13. Park W, Kim S, Kim Y, Park J. Bortezomib alleviates drug-induced liver injury by regulating CYP2E1 gene transcription. Int J Mol Med. 2016;37:613-22 pubmed publisher
    ..Liver injury induced by APAP was aggravated by MG132, possibly via elevation of connexin 32 expression...
  14. Madej Pilarczyk A, Kotruchow K, Kabzinska D, Cegielska J, Kochanski A, Hausmanowa Petrusewicz I. Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. Folia Neuropathol. 2015;53:270-4 pubmed publisher
    ..protein 22 (PMP22), ganglioside induced differentiation-associated protein 1 (GDAP1), gap junction β-1 protein (GJB1), and myelin protein zero (MPZ) genes did not reveal mutations; however, we identified a new sequence intronic ..
  15. Luo Y, Jiang Q, Wu J, Qiu J, Zhang W, Mei X, et al. Regulation of migration and invasion by Toll-like receptor-9 signaling network in prostate cancer. Oncotarget. 2015;6:22564-74 pubmed
    ..genes, such as odontogenic ameloblast-associated protein (ODAM), claudin 2 (CLDN2), gap junction protein beta 1 (GJB1) and Rho-associated coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), so far have not been found to ..
  16. Tong X, Lopez W, Ramachandran J, Ayad W, Liu Y, López Rodríguez A, et al. Glutathione release through connexin hemichannels: Implications for chemical modification of pores permeable to large molecules. J Gen Physiol. 2015;146:245-54 pubmed publisher
    ..hemichannels in a liposome-based transport-specific fractionation assay, we confirmed that homomeric Cx26 and Cx32 and heteromeric Cx26/Cx32 are permeable to GSH and other endogenous reductants...
  17. Tanyeri G, Celik O, Erbaş O, Oltulu F, Yılmaz Dilsiz O. The effectiveness of different neuroprotective agents in facial nerve injury: An experimental study. Laryngoscope. 2015;125:E356-64 pubmed publisher
    ..an increase in expression, the majority of subgroups were similar to SG in terms of intercellular connections (Connexin 32 and 43)...
  18. Ouyang X, Yan D, Aslan I, Du L, Tekin M, Liu X. Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment. Genet Test Mol Biomarkers. 2011;15:333-6 pubmed publisher
    ..Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing loss...
  19. de Kock J, Snykers S, Branson S, Jagtap S, Gaspar J, Sachinidis A, et al. A liver-derived rat epithelial cell line from biliary origin acquires hepatic functions upon sequential exposure to hepatogenic growth factors and cytokines. Curr Med Chem. 2012;19:4523-33 pubmed
    ..rLEC generate functional hepatic progeny, expressing mature hepatic markers including Alb, Ahr, Car, C/ebp?, Cx32, Foxa2, Hnf1?, Hnf1? and Onecut1...
  20. Cepeda C, Chang J, Owens G, Huynh M, Chen J, Tran C, et al. In Rasmussen encephalitis, hemichannels associated with microglial activation are linked to cortical pyramidal neuron coupling: a possible mechanism for cellular hyperexcitability. CNS Neurosci Ther. 2015;21:152-63 pubmed publisher
    ..By Western blot, expression of IBA1 and pannexin was increased while connexin 32 was decreased in RE cases compared with non-RE cases...
  21. Moore A, Zhou W, Sirois C, Belinsky G, Zecevic N, Antic S. Connexin hemichannels contribute to spontaneous electrical activity in the human fetal cortex. Proc Natl Acad Sci U S A. 2014;111:E3919-28 pubmed publisher
    ..PCR and immunohistochemical analysis identified the presence of connexins (Cx26/Cx32/Cx36) in the human fetal cortex...
  22. Okamoto T, Kawamoto E, Takagi Y, Akita N, Hayashi T, Park E, et al. Gap junction-mediated regulation of endothelial cellular stiffness. Sci Rep. 2017;7:6134 pubmed publisher
    ..junctions in endothelial cellular stiffening by utilizing gap junction blockers, carbenoxolone, inhibitory anti-connexin 32 antibody or anti-connexin 43 antibody...
  23. Choi S, Roh D, Yoon S, Kwon S, Choi H, Han H, et al. Astrocyte sigma-1 receptors modulate connexin 43 expression leading to the induction of below-level mechanical allodynia in spinal cord injured mice. Neuropharmacology. 2016;111:34-46 pubmed publisher
    ..However, SCI did not change the expression of oligodendrocyte (Cx32) or neuronal (Cx36) gap junction proteins...
  24. Pierucci F, Frati A, Squecco R, Lenci E, Vicenti C, Slavik J, et al. Non-dioxin-like organic toxicant PCB153 modulates sphingolipid metabolism in liver progenitor cells: its role in Cx43-formed gap junction impairment. Arch Toxicol. 2017;91:749-760 pubmed publisher
    ..reduced GJ biophysical properties, affecting both voltage-dependent (such as those formed by Cx43 and/or Cx32) and voltage-independent channels, thereby demonstrating that PCB153 may act differently on GJs formed by distinct ..
  25. Jerath N, Shy M, Grider T, Gutmann L. A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States. Muscle Nerve. 2015;52:1110-3 pubmed publisher
    ..Previous diagnostic work-up, including testing for Cx32, MPZ, PMP-22, NF-L, EGR2, CLCN1, DM1, DM2, SMN exon 7/8, emerin, LMNA, MPK, SCNA4, acid maltase gene, ..
  26. Stewart M, Simek J, Laird D. Insights into the role of connexins in mammary gland morphogenesis and function. Reproduction. 2015;149:R279-90 pubmed publisher
    ..studies have revealed an important stage-specific role for Cx26 (GJA1) and Cx43 (GJB2), while Cx30 (GJB6) and Cx32 (Gjb1) can be eliminated without compromising the gland...
  27. Foss B, Tronstad K, Bruserud Ø. Connexin-based signaling in acute myelogenous leukemia (AML). Biochim Biophys Acta. 2010;1798:1-8 pubmed publisher
  28. Wang L, Peng Y, Peng J, Shao M, Ma L, Zhu Z, et al. Tramadol attenuates the sensitivity of glioblastoma to temozolomide through the suppression of Cx43?mediated gap junction intercellular communication. Int J Oncol. 2018;52:295-304 pubmed publisher
    ..Our previous study reported that gap junctions composed of connexin32 (Cx32) was implicated in the effect of analgesics on cisplatin cytotoxicity...
  29. Nicholson G, Yeung L, Corbett A. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. Neurology. 1998;51:1412-6 pubmed
    ..a neurophysiologic strategy to select X-linked Charcot-Marie-Tooth neuropathy syndrome (CMTX) families for connexin 32 mutation screening...
  30. Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. Hum Mutat. 2002;20:392-8 pubmed
    ..numbers of patients have mutations of the peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), connexin 32 (Cx32/GJB1), and early growth response 2 (EGR2) genes...
  31. Sargiannidou I, Vavlitou N, Aristodemou S, Hadjisavvas A, Kyriacou K, Scherer S, et al. Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects. J Neurosci. 2009;29:4736-49 pubmed publisher
    The gap junction (GJ) protein connexin32 (Cx32) is expressed by myelinating Schwann cells and oligodendrocytes and is mutated in X-linked Charcot-Marie-Tooth disease...
  32. Keckarevic Markovic M, Milic Rasic V, Mladenovic J, Dackovic J, Kecmanovic M, Keckarevic D, et al. Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients. J Peripher Nerv Syst. 2009;14:125-36 pubmed publisher
    We report the results of mutational analysis in the following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in 57 Charcot-Marie-Tooth (CMT) patients of Serbian origin without the PMP22 duplication...
  33. Yang J, Liu B, Wang Q, Yuan D, Hong X, Yang Y, et al. Connexin 32 and its derived homotypic gap junctional intercellular communication inhibit the migration and invasion of transfected HeLa cells via enhancement of intercellular adhesion. Mol Med Rep. 2011;4:971-9 pubmed publisher
    ..In this study, we investigated the influence of Cx32 and the homotypic GJIC mediated by this Cx on the migration, invasion and intercellular adhesion of transfected ..
  34. Corcos I, Lafreniere R, Begy C, Loch Caruso R, Willard H, Glover T. Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. Genomics. 1992;13:479-80 pubmed
    ..Recently, the human connexin32 gene (locus designation GJB1) has been regionally mapped by three other laboratories to Xp11-q13, Xcen-q22, and Xp11-q22...
  35. Janssen E, Kemp S, Hensels G, Sie O, De Die Smulders C, Hoogendijk J, et al. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet. 1997;99:501-5 pubmed
    ..The nucleotide changes resulted in seven amino-acid substitutions and one premature stop codon. ..
  36. Fujimoto E, Sato H, Shirai S, Nagashima Y, Fukumoto K, Hagiwara H, et al. Connexin32 as a tumor suppressor gene in a metastatic renal cell carcinoma cell line. Oncogene. 2005;24:3684-90 pubmed
    ..In this study, we show that connexin32 (Cx32) has a strong tumor-suppressive effect on a human metastatic renal cell carcinoma cell line (Caki-1 cell)...
  37. Oh S, Verselis V, Bargiello T. Charges dispersed over the permeation pathway determine the charge selectivity and conductance of a Cx32 chimeric hemichannel. J Physiol. 2008;586:2445-61 pubmed publisher
    Previous studies have shown that charge substitutions in the amino terminus of a chimeric connexin, Cx32*43E1, which forms unapposed hemichannels in Xenopus oocytes, can result in a threefold difference in unitary conductance and alter ..
  38. Okamoto T, Akita N, Kawamoto E, Hayashi T, Suzuki K, Shimaoka M. Endothelial connexin32 enhances angiogenesis by positively regulating tube formation and cell migration. Exp Cell Res. 2014;321:133-41 pubmed publisher
    The gap junction proteins connexin32 (Cx32), Cx37, Cx40, and Cx43 are expressed in endothelial cells, and regulate vascular functions involving inflammation, vasculogenesis and vascular remodeling...
  39. Grimm A, Rasenack M, Athanasopoulou I, Dammeier N, Lipski C, Wolking S, et al. The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies. J Neurol. 2016;263:221-30 pubmed publisher
    ..The amount of enlargement did not depend on disease duration, symptom severity, height and weight. In CMTX the nerves were enlarged, as well, however, only in the roots and lower limbs, most prominent in men...
  40. Liu X, Xu C, Zhang L, Huang L, Hu T, Li R, et al. PBX1 attributes as a determinant of connexin 32 downregulation in Helicobacter pylori-related gastric carcinogenesis. World J Gastroenterol. 2017;23:5345-5355 pubmed publisher
    To clarify the mechanisms of connexin 32 (Cx32) downregulation by potential transcriptional factors (TFs) in Helicobacter pylori (H. pylori)-associated gastric carcinogenesis...
  41. Dohrn M, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, et al. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. J Neurochem. 2017;143:507-522 pubmed publisher
    ..6% an X-linked inheritance. The most frequently affected genes were PMP22 (16.4%), GJB1 (10.7%), MPZ, and SH3TC2 (both 9.9%), and MFN2 (8.3%)...
  42. Troyanovsky S, Troyanovsky R, Eshkind L, Leube R, Franke W. Identification of amino acid sequence motifs in desmocollin, a desmosomal glycoprotein, that are required for plakoglobin binding and plaque formation. Proc Natl Acad Sci U S A. 1994;91:10790-4 pubmed
    ..cells with gene constructs encoding chimeric proteins of the transmembrane part of the gap junction protein connexin 32 in combination with various segments of the cytoplasmic part of the desmosomal cadherin desmocollin 1a, we have ..
  43. Houlden H, Girard M, Cockerell C, Ingram D, Wood N, Goossens M, et al. Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol. 2004;56:730-4 pubmed
    We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. This mutation was in a highly conserved SOX10 binding site...
  44. Beauvais K, Furby A, Latour P. 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. Neuromuscul Disord. 2006;16:14-8 pubmed
    ..dominant inheritance, five genes have been incriminated: PMP22, MPZ, LITAF/SIMPLE, EGR2 (CMT1A to D), and GJB1 (CMTX)...
  45. Stancanelli C, Taioli F, Testi S, Fabrizi G, Arena M, Granata F, et al. Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. J Peripher Nerv Syst. 2012;17:407-11 pubmed publisher
    In this study, we report a novel connexin 32 (CX32) mutation associated with cognitive impairment and a differential degree of peripheral nerve involvement...
  46. Johnson M, Redmer D, Reynolds L, Grazul Bilska A. Gap junctional connexin messenger RNA expression in the ovine uterus and placenta: effects of estradiol-17?-treatment, early pregnancy stages, and embryo origin. Domest Anim Endocrinol. 2017;58:104-112 pubmed publisher
    ..We hypothesized that (1) the messenger RNA (mRNA) for Cx26, Cx32, Cx37, and Cx43 is expressed in the uterus of ovariectomized sheep treated with estradiol-17? (E2) and in ovine ..
  47. Kyriakoudi S, Sargiannidou I, Kagiava A, Olympiou M, Kleopa K. Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X. Hum Mol Genet. 2017;26:1622-1633 pubmed publisher
    ..Numerous GJB1 gene mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X). GJB1 encodes connexin32 (Cx32), which forms trans-myelin gap junctions in Schwann cells...
  48. Yu M, Zou Q, Wu X, Han G, Tong X. Connexin 32 affects doxorubicin resistance in hepatocellular carcinoma cells mediated by Src/FAK signaling pathway. Biomed Pharmacother. 2017;95:1844-1852 pubmed publisher
    ..Expression of Cx32 was closely associated with activity of the Src/FAK signaling pathway, Cx32, and the Src/FAK signaling pathway was ..
  49. Huang Y, Sirkowski E, Stickney J, Scherer S. Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells. J Neurosci. 2005;25:7111-20 pubmed
    Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy...
  50. Halbrich M, Barnes J, Bunge M, Joshi C. A V139M mutation also causes the reversible CNS phenotype in CMTX. Can J Neurol Sci. 2008;35:372-4 pubmed
  51. del Castillo F, Cohen Salmon M, Charollais A, Caille D, Lampe P, Chavrier P, et al. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. Hum Mol Genet. 2010;19:262-75 pubmed publisher
    ..Sequence accession numbers. GenBank: Human CNST cDNA, NM_152609; mouse Cnst cDNA, NM_146105. ..
  52. Swayne L, Bennett S. Connexins and pannexins in neuronal development and adult neurogenesis. BMC Cell Biol. 2016;17 Suppl 1:10 pubmed publisher
    ..pannexin-mediated communication in the regulation of the birth and development of neurons, specifically Cx26, Cx30, Cx32, Cx36, Cx43, Cx45, Panx1, and Panx2...
  53. Qin J, Chang M, Wang S, Liu Z, Zhu W, Wang Y, et al. Connexin 32-mediated cell-cell communication is essential for hepatic differentiation from human embryonic stem cells. Sci Rep. 2016;6:37388 pubmed publisher
    ..We report that Connexin 32 (Cx32)-mediated gap junctional intercellular communication (GJIC) is necessary for human embryonic stem cell-..
  54. Raška J, Čtveráčková L, Dydowiczova A, Sovadinova I, Blaha L, Babica P. Tumor-promoting cyanotoxin microcystin-LR does not induce procarcinogenic events in adult human liver stem cells. Toxicol Appl Pharmacol. 2018;345:103-113 pubmed publisher
    ..hepatic progenitor (HNF4A, LGR5, ?-fetoprotein) or differentiated hepatocyte markers (albumin, transthyretin, connexin 32)...
  55. Bissar Tadmouri N, Parman Y, Boutrand L, Deymeer F, Serdaroglu P, Vandenberghe A, et al. Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. Clin Genet. 2000;58:396-402 pubmed
    ..2. Point mutations in peripheral myelin gene 22 (PMP22), myelin protein zero (MPZ), and connexin 32 (Cx32) have been reported in CMT1, and in PMP22 in HNPP patients without deletion...
  56. Shy M, Siskind C, Swan E, Krajewski K, Doherty T, Fuerst D, et al. CMT1X phenotypes represent loss of GJB1 gene function. Neurology. 2007;68:849-55 pubmed
    ..in the gap junction beta 1 (GJB1) gene, located on the X chromosome, which encodes the gap junction protein connexin 32 (Cx32)...
  57. Brozková D, Mazanec R, Haberlova J, Sakmaryová I, Subrt I, Seeman P. Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. Genet Test Mol Biomarkers. 2010;14:3-7 pubmed publisher
    ..a hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 gene (GJB1 codes for connexin 32). In this study we report six novel mutations p.Met1Arg, p.Leu9Phe, p.Ser17Tyr, p.Val63Phe, p.Val170Ile, and p...
  58. Gonzaga Jauregui C, Zhang F, Towne C, Batish S, Lupski J. GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics. 2010;11:465-70 pubmed publisher
    The X-linked form of Charcot-Marie-Tooth disease (CMTX) is the second most common form of this genetically heterogeneous inherited peripheral neuropathy. CMT1X is caused by mutations in the GJB1 gene...
  59. Kim Y, Choi K, Park K, Lee K, Chung K, Choi B. X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans. Clin Genet. 2012;81:142-9 pubmed publisher
    ..Charcot-Marie-Tooth disease (CMTX) is an inherited peripheral neuropathy, caused mainly by a mutation of connexin 32 (Cx32) gene...
  60. Arnoldussen Y, Anmarkrud K, Skaug V, Apte R, Haugen A, Zienolddiny S. Effects of carbon nanotubes on intercellular communication and involvement of IL-1 genes. J Cell Commun Signal. 2016;10:153-62 pubmed publisher
    ..Immunofluorescence staining showed Gja1 and Gjb2 in gap junctions and hemichannels for both cell types. Gjb1 and Gjb2 expression was low in IL1-KO cells, which was confirmed by protein analysis...
  61. Shahrizaila N, Noto Y, Simon N, Huynh W, Shibuya K, Matamala J, et al. Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy. Clin Neurophysiol. 2017;128:227-232 pubmed publisher
    ..Muscle ultrasound was prospectively performed on 252 individual muscles from 21 CMT patients (9 CMT1A, 8 CMTX1, 4 CMT2A) and compared to 120 muscles from 10 age and gender-matched controls...
  62. VanSlyke J, Naus C, Musil L. Conformational maturation and post-ER multisubunit assembly of gap junction proteins. Mol Biol Cell. 2009;20:2451-63 pubmed publisher
    ..Similar results were obtained with Cx32, disproving the widely reported contention that the site of endogenous beta connexin assembly is the ER...
  63. Berciano J, García A, Gallardo E, Peeters K, Pelayo Negro A, Álvarez Paradelo S, et al. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. J Neurol. 2017;264:1655-1677 pubmed publisher
    ..In the vast majority of males with X-linked CMT associated with GJB1 mutation (CMTX1), median MNCV was intermediate...
  64. Carrer A, Leparulo A, Crispino G, Ciubotaru C, Marin O, Zonta F, et al. Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease. Hum Mol Genet. 2018;27:80-94 pubmed publisher
    Mutations of the GJB1 gene encoding connexin 32 (Cx32) cause the X-linked form of Charcot-Marie-Tooth disease (CMTX1), a demyelinating peripheral neuropathy for which there is no cure...
  65. Schiavon F, Fracasso C, Mostacciuolo M. Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mutat. 1996;8:83-4 pubmed
  66. Jahn E, Classen Linke I, Kusche M, Beier H, Traub O, Grummer R, et al. Expression of gap junction connexins in the human endometrium throughout the menstrual cycle. Hum Reprod. 1995;10:2666-70 pubmed
    ..Weak staining for connexin 32 was found mainly in the late proliferative and the early secretory phase and was restricted to the basal ..
  67. Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, et al. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum Mutat. 1998;12:59-68 pubmed
    ..We screened for mutations in the peripheral myelin protein genes connexin 32 (Cx32), myelin protein zero (P0) and peripheral myelin protein 22 (PMP22) by direct sequencing...
  68. Verhelst H, Lofgren A, Van Coster R. A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation. Eur J Paediatr Neurol. 2000;4:235-8 pubmed
    ..The mother and the eldest sister had pes cavus bilaterally although they were asymptomatic. The younger brother and sister showed no signs of the disease. ..
  69. Kochanski A, Lofgren A, Jedrzejowska H, Ryniewicz B, Czarny Ratajczak M, Barciszewska A, et al. A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease. Hum Mutat. 2001;17:157 pubmed
  70. Abrams C, Bennett M, Verselis V, Bargiello T. Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. Proc Natl Acad Sci U S A. 2002;99:3980-4 pubmed
    ..peripheral neuropathy that arises in patients with mutations in the gene encoding the gap junction protein connexin 32 (Cx32), which is expressed by Schwann cells...
  71. Choi B, Lee M, Shin S, Hwang J, Choi K, Kim W, et al. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat. 2004;24:185-6 pubmed
    We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease...
  72. Sato H, Hagiwara H, Senba H, Fukumoto K, Nagashima Y, Yamasaki H, et al. The inhibitory effect of connexin 32 gene on metastasis in renal cell carcinoma. Mol Carcinog. 2008;47:403-9 pubmed
    ..Because there is no standard therapy for advanced RCC, we investigated the anti-metastatic effect of Cx32 to seek a possibility of new RCC therapy...
  73. Okamoto T, Akiyama M, Takeda M, Gabazza E, Hayashi T, Suzuki K. Connexin32 is expressed in vascular endothelial cells and participates in gap-junction intercellular communication. Biochem Biophys Res Commun. 2009;382:264-8 pubmed publisher
    ..It has been reported that vascular ECs express Cx37, Cx40, and Cx43, but not Cx32. Here, we showed that Cx32 mRNA and protein are expressed in various cultured human ECs...
  74. Sakaguchi H, Yamashita S, Miura A, Hirahara T, Kimura E, Maeda Y, et al. A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease. J Neurol. 2011;258:284-90 pubmed publisher
    ..Charcot-Marie-Tooth disease (CMT1X) is the second most common variant of CMT and is caused by mutations in the GJB1 gene encoding connexin 32...
  75. Milley G, Varga E, Grosz Z, Bereznai B, Aranyi Z, Boczan J, et al. Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients. Neuromuscul Disord. 2016;26:706-711 pubmed publisher
    ..variants of the gap junction beta 1 (GJB1) gene are responsible for the Charcot-Marie-Tooth neuropathy X type 1 (CMTX1)...
  76. Kumar N, Gilula N. Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein. J Cell Biol. 1986;103:767-76 pubmed
    ..The rat liver clone is 1,127 bases in length, and it has strong sequence homology to the human cDNA in the protein-coding region, but less extensive homology in the 3'-untranslated region. ..
  77. Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo M, et al. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet. 1994;3:29-34 pubmed
    ..2-q12) and DXS559 (Xq13.1). Contained within this interval of approximately 2-3Mb of DNA is the gene, connexin 32 (locus designation GJ beta 1)...
  78. Wu J, Zhou H, Wang C, Zhang B, Liu D, Wang W, et al. [Decreased expression of Cx32 and Cx43 and their function of gap junction intercellular communication in gastric cancer]. Zhonghua Zhong Liu Za Zhi. 2007;29:742-7 pubmed
    ..Immunohistochemistry was used to detect the expression of Cx32 and Cx43 proteins in tissue samples...
  79. Zhang W, Li H, Fan M, Lv Z, Shen X, He X. Expressions of connexin 32 and 26 and their correlation to prognosis of non-small cell lung cancer. Ai Zheng. 2009;28:173-6 pubmed
    ..This study was to investigate expressions of connexin 32 and 26 proteins in non-small cell lung cancer (NSCLC), and their correlation to clinicopathological characters ..
  80. Schiza N, Sargiannidou I, Kagiava A, Karaiskos C, Nearchou M, Kleopa K. Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model. Hum Mol Genet. 2015;24:2049-64 pubmed publisher
    ..Recessive GJC2/Cx47 mutations cause Pelizaeus-Merzbacher-like disease, a hypomyelinating leukodystrophy, while GJB1/Cx32 mutations cause neuropathy and chronic or acute-transient encephalopathy syndromes...
  81. Lu Y, Lyu H, Jin S, Zuo Y, Liu J, Wang Z, et al. Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease. Chin Med J (Engl). 2017;130:1049-1054 pubmed publisher
    ..forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32)...
  82. Takashima H, Boerkoel C, Lupski J. Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med. 2001;3:335-42 pubmed
    ..1) Identification of the optimal conditions for mutation scanning by DHPLC using 50 known variants of PMP22, MPZ, GJB1 and EGR2. (2) Comparison of DHPLC with DNA sequencing for mutation detection in 168 patient DNA samples...
  83. Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo M. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset. Neuromuscul Disord. 2006;16:878-81 pubmed
    ..CMTX1 is caused by mutations in the GJB1 gene encoding for connexin 32. We describe an Italian family with an intermediate CMTX phenotype with late onset...
  84. Li M, Cheng T, Ho P, Chan K, Mak W, Cheung R, et al. -459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy. J Peripher Nerv Syst. 2009;14:14-21 pubmed publisher
    ..The X-linked form (CMTX) is linked to mutations in the GJB1 gene...
  85. Pawelczyk M, Van Laer L, Fransen E, Rajkowska E, Konings A, Carlsson P, et al. Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss. Ann Hum Genet. 2009;73:411-21 pubmed publisher
    ..Additionally we report significant associations in GJB1, GJB2, GJB4, KCNJ10 and KCNQ1, however due to the lack of replication in the Swedish sample set, these results ..
  86. Agrahari A, Kumar A, R S, Zayed H, C G. Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study. J Theor Biol. 2018;437:305-317 pubmed publisher
    ..It is also known as connexin 32 (Cx32) that leads to Schwann cell abnormalities and peripheral neuropathy...
  87. Neuhaus I, Bone L, Wang S, Ionasescu V, Werner R. The human connexin32 gene is transcribed from two tissue-specific promoters. Biosci Rep. 1996;16:239-48 pubmed
    ..in the coding region of this gene have been associated with the dominant X-linked form of Charcot-Marie-Tooth (CMTX1) neuropathy...
  88. Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, et al. Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. Hum Genet. 1997;100:391-7 pubmed
    ..Charcot-Marie-Tooth disease (CMTX) is associated with mutations in a gene coding for the gap-junction protein connexin 32 (Cx32)...
  89. Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, et al. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum Mutat. 1997;10:443-52 pubmed
    ..CMTX is usually associated with mutations in exon 2 of the connexin 32 (Cx32) gene. DNA from 35 unrelated CMT patients, without the 17p11...
  90. Kojima T, Sawada N, Chiba H, Kokai Y, Yamamoto M, Urban M, et al. Induction of tight junctions in human connexin 32 (hCx32)-transfected mouse hepatocytes: connexin 32 interacts with occludin. Biochem Biophys Res Commun. 1999;266:222-9 pubmed
    ..to examine roles of gap junctions in regulating expression and structure of tight junctions, we transfected human Cx32 cDNA into immortalized mouse hepatocytes (CHST8 cells) which lack endogenous Cx32 and Cx26...
  91. Kochanski A, Kabzinska D. Molecular genetic analysis of the GJB1 gene: a study of six mutations. J Appl Genet. 2004;45:95-100 pubmed
    Charcot-Marie-Tooth type X1 disease (CMTX1) is an X-dominant peripheral neuropathy caused by mutations in the GJB1 gene. Molecular genetic analysis of the GJB1 gene is crucial for CMTX1 diagnosis and for genetic counselling...
  92. Fischer R, Reinehr R, Lu T, Schönicke A, Warskulat U, Dienes H, et al. Intercellular communication via gap junctions in activated rat hepatic stellate cells. Gastroenterology. 2005;128:433-48 pubmed
    ..In contrast to hepatocytes, hepatic stellate cells do not express connexin 32. Confluent hepatic stellate cells in culture communicate via gap junctions, resulting in lucifer yellow ..