| 1 | CMTX1, GJB1, GJC2, PMLD1, SPG44
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| Diseases of connexins expressed in myelinating glia.
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| Abrams CK.
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| Neurosci Lett 695:91-99. doi: 10.1016/j.neulet.2017.05.037. Epub 2017 May 23. Review.
2019
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| 2 | GJB1
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| What's the Function of Connexin 32 in the Peripheral Nervous System?
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| Bortolozzi M.
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| Front Mol Neurosci 11:227. doi: 10.3389/fnmol.2018.00227. eCollection 2018. Review.
2018
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| 3 | CMTX1, GJB1
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| The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.
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| Wen Q, Cao L, Yang C, Xie Y.
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| Front Neurol 9:461. doi: 10.3389/fneur.2018.00461. eCollection 2018.
2018
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| 4 | CMTX1, GJB1
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| Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.
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| Yuan JH, Sakiyama Y, Hashiguchi A, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Takashima H.
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| Eur J Neurol 25(12):1454-1461. doi: 10.1111/ene.13750. Epub 2018 Aug 3.
2018
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| 5 | GJB1
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| Dileucine-like motifs in the C-terminal tail of connexin32 control its endocytosis and assembly into gap junctions.
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| Ray A, Katoch P, Jain N, Mehta PP.
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| J Cell Sci 131(5). pii: jcs207340. doi: 10.1242/jcs.207340.
2018
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| 6 | CMTX1, GJB1
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| Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
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| Kulshrestha R, Burton-Jones S, Antoniadi T, Rogers M, Jaunmuktane Z, Brandner S, Kiely N, Manuel R, Willis T.
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| Neuromuscul Disord 27(8):766-770. doi: 10.1016/j.nmd.2017.05.001. Epub 2017 May 4.
2017
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| 7 | CMTX1, GJB1
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| Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
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| Abrams CK, Goman M, Wong S, Scherer SS, Kleopa KA, Peinado A, Freidin MM.
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| Sci Rep 7:40166. doi: 10.1038/srep40166.
2017
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| 8 | CMTX1, GJB1
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| Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1.
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| Wu N, Said S, Sabat S, Wicklund M, Stahl MC.
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| Case Rep Neurol 7(3):247-52. doi: 10.1159/000442410. eCollection 2015 Sep-Dec.
2015
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| 9 | CMTX1, GJB1
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| Connexins, gap junctions and peripheral neuropathy.
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| Kleopa KA, Sargiannidou I.
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| Neurosci Lett 596:27-32. doi: 10.1016/j.neulet.2014.10.033. Epub 2014 Oct 24. Review.
2015
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| 10 | CMTX1, GJB1
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| Contribution of copy number variations in CMT1X: a retrospective study.
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| Capponi S, Geroldi A, Pezzini I, Gulli R, Ciotti P, Ursino G, Lamp M, Reni L, Schenone A, Grandis M, Mandich P, Bellone E.
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| Eur J Neurol 22(2):406-9. doi: 10.1111/ene.12434. Epub 2014 Apr 12.
2015
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| 11 | CMTX1, GJB1
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| Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.
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| Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM.
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| J Neurol Sci 347(1-2):14-22. doi: 10.1016/j.jns.2014.10.013. Epub 2014 Oct 16. Review.
2014
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| 12 | CMTX1, GJB1
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| Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.
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| McKinney JL, De Los Reyes EC, Lo WD, Flanigan KM.
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| Muscle Nerve 49(3):451-4. doi: 10.1002/mus.24108. Epub 2014 Jan 27.
2014
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| 13 | CMTX1, GJB1
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| Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
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| Borgulová I, Mazanec R, Sakmaryová I, Havlová M, Safka Broková D, Seeman P.
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| Neurogenetics 14(3-4):189-95. doi: 10.1007/s10048-013-0368-7. Epub 2013 Aug 4.
2013
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| 14 | CALM1, DLG1, GJB1
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| Characterization of the structure and intermolecular interactions between the connexin 32 carboxyl-terminal domain and the protein partners synapse-associated protein 97 and calmodulin.
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| Stauch K, Kieken F, Sorgen P.
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| J Biol Chem 287(33):27771-88. doi: 10.1074/jbc.M112.382572. Epub 2012 Jun 20.
2012
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| 15 | EGFR, GJA1, GJB1, GJB2
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| Epidermal growth factor regulates connexin 43 in the human epididymis: role of gap junctions in azoospermia.
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| Dubé E, Dufresne J, Chan PT, Cyr DG.
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| Hum Reprod 27(8):2285-96. doi: 10.1093/humrep/des164. Epub 2012 May 17. 2012
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| 16 | GJA1, GJB1, SLC1A5
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| The molecular role of connexin 43 in human trophoblast cell fusion.
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| Dunk CE, Gellhaus A, Drewlo S, Baczyk D, Pötgens AJ, Winterhager E, Kingdom JC, Lye SJ.
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| Biol Reprod 86(4):115. doi: 10.1095/biolreprod.111.096925. Print 2012 Apr.
2012
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| 17 | GJB1
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| Connexin32 protects against vascular inflammation by modulating inflammatory cytokine expression by endothelial cells.
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| Okamoto T, Akiyama M, Takeda M, Akita N, Yoshida K, Hayashi T, Suzuki K.
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| Exp Cell Res 317(3):348-55. Epub 2010 Oct 29.
2011
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| 18 | GJB1, NRG1
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| Connexin 32 increases the proliferative response of Schwann cells to neuregulin-1 (Nrg1).
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| Freidin M, Asche S, Bargiello TA, Bennett MV, Abrams CK.
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| Proc Natl Acad Sci U S A 106(9):3567-72. Epub 2009 Feb 13.
2009
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| 19 | GJB1
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| Connexin32 is expressed in vascular endothelial cells and participates in gap-junction intercellular communication.
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| Okamoto T, Akiyama M, Takeda M, Gabazza EC, Hayashi T, Suzuki K.
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| Biochem Biophys Res Commun 382(2):264-8. Epub 2009 Mar 3.
2009
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| 20 | GJA1, GJA10, GJB1, GJD2
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| The diverse functional roles and regulation of neuronal gap junctions in the retina.
|
| Bloomfield SA, Völgyi B.
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| Nat Rev Neurosci. 10(7):495-506. 2009
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| 21 | GJB1
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| Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.
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| Sargiannidou I, Vavlitou N, Aristodemou S, Hadjisavvas A, Kyriacou K, Scherer SS, Kleopa KA.
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| J Neurosci 29(15):4736-49.
2009
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| 22 | GJB1, CMTX1
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| Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
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| Mandich P, Grandis M, Geroldi A, Acquaviva M, Varese A, Gulli R, Ciotti P, Bellone E.
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| J Hum Genet 53(6):529-33. Epub 2008 Apr 1. 2008
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| 23 | CMTX1, GJB1
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| CMT1X phenotypes represent loss of GJB1 gene function.
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| Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF.
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| Neurology 68(11):849-55.
2007
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| 24 | GJB1, CMTX1
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| Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
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| Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D.
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| J Neurol 253(2):263-4. Epub 2005 Aug 17. No abstract available. 2006
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| 25 | GJB1, CMTX1
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| The effects of a dominant connexin32 mutant in myelinating Schwann cells.
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| Jeng LJ, Balice-Gordon RJ, Messing A, Fischbeck KH, Scherer SS.
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| Mol Cell Neurosci 32(3):283-98. Epub 2006 Jun 21. 2006
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| 26 | GJB1, CMTX1, LITAF, CMT1C
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| 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.
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| Beauvais K, Furby A, Latour P.
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| Neuromuscul Disord 16(1):14-8. Epub 2005 Dec 20. 2006
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| 27 | DFNB1, GJB1, GJB6
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| A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
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| del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I.
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| J Med Genet 42(7):588-94. No abstract available. 2005
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| 28 | GJB1
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| Connexin32 as a tumor suppressor gene in a metastatic renal cell carcinoma cell line.
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| Fujimoto E, Sato H, Shirai S, Nagashima Y, Fukumoto K, Hagiwara H, Negishi E, Ueno K, Omori Y, Yamasaki H, Hagiwara K, Yano T.
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| Oncogene. 24(22):3684-90. 2005
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| 29 | GJB1, CMTX1
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| Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
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| Wang HL, Chang WT, Yeh TH, Wu T, Chen MS, Wu CY.
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| Neurobiol Dis 15(2):361-70. 2004
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| 30 | GJB1, GJB6, DFNB1
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| Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
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| Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F.
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| Am J Hum Genet 73(6):1452-8. Epub 2003 Oct 21. 2003
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| 31 | GJB1
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| Molecular basis of calcium regulation in connexin-32 hemichannels.
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| Gomez-Hernandez JM, de Miguel M, Larrosa B, Gonzalez D, Barrio LC.
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| Proc Natl Acad Sci U S A 100(26):16030-5. Epub 2003 Dec 08. 2003
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| 32 | GJB1
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| Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.
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| Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O, Goossens M.
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| Hum Mol Genet 10(24):2783-95. 2001
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| 33 | CMTX1, GJB1
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| Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.
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| Martin PE, Mambetisaeva ET, Archer DA, George CH, Evans WH.
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| J Neurochem 74(2):711-20. 2000
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| 34 | CMTX1, GJB1
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| Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease.
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| Ressot C, Bruzzone R.
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| Brain Res Brain Res Rev 32(1):192-202. Review. 2000
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| 35 | CMTX1, GJB1
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| Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease.
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| Abrams CK, Oh S, Ri Y, Bargiello TA.
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| Brain Res Brain Res Rev 32(1):203-14. Review. 2000
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| 36 | GJB1
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| Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene.
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| Wang HL, Wu T, Chang WT, Li AH, Chen MS, Wu CY, Fang W.
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| Brain Res Mol Brain Res 78(1-2):146-53. 2000
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| 37 | GJB1
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| Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene.
|
| Hudder A, Werner R.
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| J Biol Chem 275(44):34586-91. 2000
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| 38 | GJB1
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| A new exon in the 5' untranslated region of the connexin32 gene.
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| Duga S, et al.
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| Eur J Biochem 259(1-2):188-96. 1999
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| 39 | GJB1, CMTX1
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| Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation.
|
| Stojkovic T, et al.
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| Neurology 52(5):1010-4. 1999
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| 40 | CMTX1, GJB1
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| X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).
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| Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schroder JM.
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| J Neurol Sci 167(2):90-101 1999
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| 41 | GJB1
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| Induction of tight junctions in human connexin 32 (hCx32)-transfected mouse hepatocytes: connexin 32 interacts with occludin.
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| Kojima T, Sawada N, Chiba H, Kokai Y, Yamamoto M, Urban M, Lee GH, Hertzberg EL, Mochizuki Y, Spray DC.
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| Biochem Biophys Res Commun. 266(1):222-9. 1999
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| 42 | CMTX1, GJB1
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| The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
|
| Meggouh F, et al.
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| J Med Genet 35 : 251-252. 1998
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| 43 | CMTX1, GJB1
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| 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.
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| J Neurosci 18 : 4063-4075. 1998
|
| 44 | CMTX1, GJB1
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| Four novel mutations of the connexin 32 gene in four japanese families with Charcot-Marie-Tooth disease type 1.
|
| Ikegami T, et al.
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| Am J Med Genet 80 : 352-355. 1998
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| 45 | EGFR, GJB1
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| The epidermal growth factor receptor tyrosine kinase phosphorylates connexin32.
|
| Diez JA, Elvira M, Villalobo A.
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| Mol Cell Biochem 187 : 201-210. 1998
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| 46 | CMTX1, GJB1
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| Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1 : identification of five new mutations.
|
| Nelis E, et al.
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| Hum Mutat 9 : 47-52. 1997
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| 47 | CMTX1, GJB1
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| New mutations in the X-linked form of Charcot-Marie-Tooth disease.
|
| Latour P, et al.
|
| Eur Neurol 37 : 38-42. 1997
|
| 48 | CMTX1, GJB1
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| Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
|
| Janssen EAM, et al.
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| Hum Genet 99 : 501-505. 1997
|
| 49 | CMTX1, GJB1
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| Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
|
| Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus ML.
|
| Hum Genet 100(3-4):391-7. 1997
|
| 50 | GJB1, CMTX1
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| Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease.
|
| Tan CC, et al.
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| Hum Mutat 7 : 167-171. 1996
|
| 51 | CMTX1, GJB1
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| Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
|
| Oterino A, et al.
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| J Med Genet 33 : 413-415. 1996
|
| 52 | CMTX1, GJB1
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| Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
|
| Schiavon F, et al.
|
| Hum Mutat 8 : 83-84. 1996
|
| 53 | CMTX1, GJB1
|
| X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) : new mutations in the connexin32 gene.
|
| Ressot C, et al.
|
| Hum Genet 98 : 172-175. 1996
|
| 54 | CMTX1, GJB1
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| Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients : functional defects and dominant negative effects.
|
| Omori Y, et al.
|
| Mol Biol Cell 7 : 907-916. 1996
|
| 55 | CMTX1, GJB1
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| Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
|
| Ionasescu VV, et al.
|
| Neurology 47 : 541-544. 1996
|
| 56 | CMTX1, GJB1
|
| Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
|
| Yoshimura T, et al.
|
| Hum Mutat 8 : 270-272. 1996
|
| 57 | CMTX1, GJB1
|
| A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
|
| Gupta S, et al.
|
| Hum Mutat 8 : 375-376. 1996
|
| 58 | CMTX1, GJB1
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| New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
|
| Bone LJ, et al.
|
| Neurology 45 : 1863-1866. 1995
|
| 59 | CMTX1, GJB1
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| Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1) : additional support that connexin32 is the defect in CMTX1.
|
| Pericak-Vance MA, et al.
|
| Hum Hered 45 : 121-128. 1995
|
| 60 | GJB1, CMTX1
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| Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
|
| Fairweather N, et al.
|
| Hum Mol Genet 3 : 29-34. 1994
|
| 61 | CMTX1, GJB1
|
| X-linked dominant Charcot-Marie-Tooth neuropathy : valine-38-methionine substitution of connexin32.
|
| Orth U, et al.
|
| Hum Mol Genet 3 : 1699-1700. 1994
|
| 62 | CMTX1, GJB1
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| Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease. (abstr)
|
| Tan C, et al.
|
| Am J Hum Genet 55 : A245. 1994
|
| 63 | CMTX1, GJB1
|
| Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.
|
| Bruzzone R, et al.
|
| Neuron 13 : 1253-1260. 1994
|
| 64 | CMTX1, GJB1
|
| Connexin mutations in X-linked Charcot-Marie-Tooth disease.
|
| Bergoffen J, et al.
|
| Science 262 : 2039-2042. 1993
|
| 65 | GJB1
|
| Phosphorylation of connexin-32 by protein kinase C prevents its proteolysis by mu-calpain and m-calpain.
|
| Elvira M, Díez JA, Wang KK, Villalobo A.
|
| J Biol Chem. 268(19):14294-300. 1993
|
| 66 | GJB1
|
| Refined localization of human connexin 32 gene locus, GJB1, to Xq13.1.
|
| Corcos IA, et al.
|
| Genomics 13 : 479-480. 1992
|
| 67 | GJB1
|
| Assignment of the human connexin 32 gene (GJB1) to band Xq13.
|
| Raimondi E, et al.
|
| Cytogenet Cell Genet 60 : 210-211. 1992
|
| 68 | GJA1, GJA3, GJB1, GJB2
|
| Distribution of genes for Gap junction membrane channel proteins on human and mouse chromosomes.
|
| Hsieh CL, et al.
|
| Somat Cell Mol Genet 17 : 191-200. 1991
|
| 69 | GJA1, GJA1P1, GJB1
|
| The human connexin gene family of Gap junction proteins : distinct chromosomal locations but similar structures.
|
| Fishman GI, et al.
|
| Genomics 10 : 250-256. 1991
|