| 1 | CUX2, GJA1, NEURL
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| Genomic Variants in NEURL, GJA1 and CUX2 Significantly Increase Genetic Susceptibility to Atrial Fibrillation.
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| Wang P, Qin W, Wang P, Huang Y, Liu Y, Zhang R, Li S, Yang Q, Wang X, Chen F, Liu J, Yang B, Cheng X, Liao Y, Wu Y, Ke T, Tu X, Ren X, Yang Y, Xia Y, Luo X, Liu M, Li H, Liu J, Xiao Y, Chen Q, Xu C, Wang QK.
|
| Sci Rep 8(1):3297. doi: 10.1038/s41598-018-21611-7.
2018
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| 2 | CLMP, GJA1, GJC1
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| The IgCAM CLMP regulates expression of Connexin43 and Connexin45 in intestinal and ureteral smooth muscle contraction in mice.
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| Langhorst H, Jüttner R, Groneberg D, Mohtashamdolatshahi A, Pelz L, Purfürst B, Schmidt-Ott KM, Friebe A, Rathjen FG.
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| Dis Model Mech 11(2). pii: dmm032128. doi: 10.1242/dmm.032128.
2018
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| 3 | CDH2, GJA1
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| Gap junction protein Connexin-43 is a direct transcriptional regulator of N-cadherin in vivo.
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| Kotini M, Barriga EH, Leslie J, Gentzel M, Rauschenberger V, Schambony A, Mayor R.
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| Nat Commun 9(1):3846. doi: 10.1038/s41467-018-06368-x. Erratum in: Nat Commun. 2018 Nov 1;9(1):4633.
2018
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| 4 | EZR, GJA1, PRKACA
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| Ezrin-anchored PKA phosphorylates serine 369 and 373 on connexin 43 to enhance gap junction assembly, communication, and cell fusion.
|
| Dukic AR, Gerbaud P, Guibourdenche J, Thiede B, Taskén K, Pidoux G.
|
| Biochem J 475(2):455-476. doi: 10.1042/BCJ20170529. Erratum in: Biochem J. 2019 Jul 2;476(13):1927.
2018
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| 5 | CYBB, GJA1, GJA5
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| Intermittent hypoxia causes NOX2-dependent remodeling of atrial connexins.
|
| Gemel J, Su Z, Gileles-Hillel A, Khalyfa A, Gozal D, Beyer EC.
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| BMC Cell Biol 18(Suppl 1):7. doi: 10.1186/s12860-016-0117-5.
2017
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| 6 | CELF1, EXOSC10, GJA1
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| CELF1 Mediates Connexin 43 mRNA Degradation in Dilated Cardiomyopathy.
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| Chang KT, Cheng CF, King PC, Liu SY, Wang GS.
|
| Circ Res 121(10):1140-1152. doi: 10.1161/CIRCRESAHA.117.311281. Epub 2017 Sep 5.
2017
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| 7 | GJA1, TYK2
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| Regulation of Connexin43 Function and Expression by Tyrosine Kinase 2.
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| Li H, Spagnol G, Zheng L, Stauch KL, Sorgen PL.
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| J Biol Chem 291(30):15867-80. doi: 10.1074/jbc.M116.727008. Epub 2016 May 27.
2016
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| 8 | GJA1, PRKAA1
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| AMP-activated protein kinase α1 regulates cardiac gap junction protein connexin 43 and electrical remodeling following pressure overload.
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| Alesutan I, Voelkl J, Stöckigt F, Mia S, Feger M, Primessnig U, Sopjani M, Munoz C, Borst O, Gawaz M, Pieske B, Metzler B, Heinzel F, Schrickel JW, Lang F.
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| Cell Physiol Biochem 35(1):406-18. doi: 10.1159/000369706. Epub 2015 Jan 14.
2015
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| 9 | EKVP3, GJA1
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| Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
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| Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K; Yale Center for Mendelian Genomics, Paller AS, Choate KA.
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| J Invest Dermatol 135(6):1540-7. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.
2015
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| 10 | GJA1, GJA5, GJC1
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| Relating specific connexin co-expression ratio to connexon composition and gap junction function.
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| Desplantez T, Grikscheit K, Thomas NM, Peters NS, Severs NJ, Dupont E.
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| J Mol Cell Cardiol 89(Pt B):195-202. doi: 10.1016/j.yjmcc.2015.11.008. Epub 2015 Nov 6.
2015
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| 11 | GJA1, PTPN2
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| TC-PTP directly interacts with connexin43 to regulate gap junction intercellular communication.
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| Li H, Spagnol G, Naslavsky N, Caplan S, Sorgen PL.
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| J Cell Sci 127(Pt 15):3269-79. doi: 10.1242/jcs.145193. Epub 2014 May 20.
2014
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| 12 | BMP15, GDF9, GJA1
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| Oocyte-derived BMP15 but not GDF9 down-regulates connexin43 expression and decreases gap junction intercellular communication activity in immortalized human granulosa cells
|
| Chang HM, Cheng JC, Taylor E, Leung PC
|
| Mol Hum Reprod. May;20(5):373-83. doi: 10.1093/molehr/gau001. Epub 2014 Jan 10. 2014
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| 13 | CMDR, GJA1
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| A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia.
|
| Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ.
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| PLoS One 8(8):e73576. doi: 10.1371/journal.pone.0073576.
2013
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| 14 | GJA1
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| Connexin 43 is a potential regulator in fluid shear stress-induced signal transduction in osteocytes.
|
| Li X, Liu C, Li P, Li S, Zhao Z, Chen Y, Huo B, Zhang D.
|
| J Orthop Res Orthop Res. 2013 Jul 22. doi: 10.1002/jor.22448. [Epub ahead of print]
2013
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| 15 | GJA1
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| Molecular Mechanisms of Osteoblast/Osteocyte Regulation by Connexin43.
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| Stains JP, Watkins MP, Grimston SK, Hebert C, Civitelli R.
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| Calcif Tissue Int alcif Tissue Int. 2013 Jun 11. [Epub ahead of print]
2013
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| 16 | GJA1, ODDD
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| Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms.
|
| Huang T, Shao Q, MacDonald A, Xin L, Lorentz R, Bai D, Laird DW.
|
| J Cell Sci 126(Pt 13):2857-66. doi: 10.1242/jcs.123315. Epub 2013 Apr 19.
2013
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| 17 | GJA1, PPP2R2A
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| The protein phosphatase 2A regulatory subunit Ppp2r2a is required for Connexin-43 dephosphorlyation during epidermal barrier acquisition.
|
| Gerner L, Youssef G, O'Shaughnessy RF.
|
| Exp Dermatol 22(11):754-6. doi: 10.1111/exd.12234.
2013
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| 18 | GJA1, ODDD
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| A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
|
| Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S.
|
| Clin Genet 84(4):378-81. doi: 10.1111/cge.12158. Epub 2013 Apr 26.
2013
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| 19 | GJA1, NR1D1, SP1
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| Role of Rev-erbα domains for transactivation of the connexin43 promoter with Sp1.
|
| Negoro H, Okinami T, Kanematsu A, Imamura M, Tabata Y, Ogawa O.
|
| FEBS Lett 587(1):98-103. doi: 10.1016/j.febslet.2012.11.021.
2013
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| 20 | CASK, GJA1
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| CASK (LIN2) interacts with Cx43 in wounded skin and their coexpression affects cell migration.
|
| Márquez-Rosado L, Singh D, Rincón-Arano H, Solan JL, Lampe PD.
|
| J Cell Sci 125(Pt 3):695-702. doi: 10.1242/jcs.084400.
2012
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| 21 | GJA1, SCN5A
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| Cx43 associates with Na(v)1.5 in the cardiomyocyte perinexus.
|
| Rhett JM, Ongstad EL, Jourdan J, Gourdie RG.
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| J Membr Biol 245(7):411-22. doi: 10.1007/s00232-012-9465-z. Epub 2012 Jul 19.
2012
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| 22 | GJA1
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| Connexin 43 interacts with Bax to regulate apoptosis of pancreatic cancer through a gap junction-independent pathway.
|
| Sun Y, Zhao X, Yao Y, Qi X, Yuan Y, Hu Y.
|
| Int J Oncol 41(3):941-8. doi: 10.3892/ijo.2012.1524. Epub 2012 Jun 20.
2012
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| 23 | GJA1
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| MAPK phosphorylation of connexin 43 promotes binding of cyclin E and smooth muscle cell proliferation.
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| Johnstone SR, Kroncke BM, Straub AC, Best AK, Dunn CA, Mitchell LA, Peskova Y, Nakamoto RK, Koval M, Lo CW, Lampe PD, Columbus L, Isakson BE.
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| Circ Res 111(2):201-11. doi: 10.1161/CIRCRESAHA.112.272302. Epub 2012 May 31.
2012
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| 24 | EGFR, GJA1, GJB1, GJB2
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| Epidermal growth factor regulates connexin 43 in the human epididymis: role of gap junctions in azoospermia.
|
| 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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| 25 | CDKN1B, GJA1
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| Connexin 43 controls the multipolar phase of neuronal migration to the cerebral cortex.
|
| Liu X, Sun L, Torii M, Rakic P.
|
| Proc Natl Acad Sci U S A 109(21):8280-5. doi: 10.1073/pnas.1205880109. Epub 2012 May 7. 2012
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| 26 | GJA1
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| Mechanical stress-activated integrin α5β1 induces opening of connexin 43 hemichannels.
|
| Batra N, Burra S, Siller-Jackson AJ, Gu S, Xia X, Weber GF, DeSimone D, Bonewald LF, Lafer EM, Sprague E, Schwartz MA, Jiang JX.
|
| Proc Natl Acad Sci U S A 109(9):3359-64. doi: 10.1073/pnas.1115967109. Epub 2012 Feb 13.
2012
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| 27 | CDH1, GJA1, GJB2, TCF12
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| TCF12 protein functions as transcriptional repressor of E-cadherin, and its overexpression is correlated with metastasis of colorectal cancer.
|
| Lee CC, Chen WS, Chen CC, Chen LL, Lin YS, Fan CS, Huang TS.
|
| J Biol Chem 287(4):2798-809. doi: 10.1074/jbc.M111.258947. Epub 2011 Nov 30.
2012
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| 28 | GJA1
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| Monocyte-endothelial adhesion is modulated by Cx43-stimulated ATP release from monocytes.
|
| Yuan D, Wang Q, Wu D, Yu M, Zhang S, Li L, Tao L, Harris AL.
|
| Biochem Biophys Res Commun 420(3):536-41. doi: 10.1016/j.bbrc.2012.03.027. Epub 2012 Mar 13.
2012
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| 29 | GJA1, SENP1, SENP2
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| The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation.
|
| Kjenseth A, Fykerud TA, Sirnes S, Bruun J, Yohannes Z, Kolberg M, Omori Y, Rivedal E, Leithe E.
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| J Biol Chem 287(19):15851-61. doi: 10.1074/jbc.M111.281832. Epub 2012 Mar 12.
2012
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| 30 | GJA1, ODDD
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| Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
|
| Shao Q, Liu Q, Lorentz R, Gong XQ, Bai D, Shaw GS, Laird DW.
|
| Mol Biol Cell 23(17):3312-21. doi: 10.1091/mbc.E12-02-0128.
2012
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| 31 | GJA1
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| Role of CCCTC binding factor (CTCF) and cohesin in the generation of single-cell diversity of protocadherin-α gene expression.
|
| Monahan K, Rudnick ND, Kehayova PD, Pauli F, Newberry KM, Myers RM, Maniatis T.
|
| Proc Natl Acad Sci U S A 109(23):9125-30. doi: 10.1073/pnas.1205074109. Epub 2012 May 1.
2012
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| 32 | GJA1, SEMA3D
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| Semaphorin3d mediates Cx43-dependent phenotypes during fin regeneration.
|
| Ton QV, Kathryn Iovine M.
|
| Dev Biol 366(2):195-203. doi: 10.1016/j.ydbio.2012.03.020. Epub 2012 Apr 20.
2012
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| 33 | GJA1, GJB1, SLC1A5
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| The molecular role of connexin 43 in human trophoblast cell fusion.
|
| Dunk CE, Gellhaus A, Drewlo S, Baczyk D, Pötgens AJ, Winterhager E, Kingdom JC, Lye SJ.
|
| Biol Reprod 86(4):115. doi: 10.1095/biolreprod.111.096925. Print 2012 Apr.
2012
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| 34 | GJA1, TBX18
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| Transcriptional suppression of connexin43 by TBX18 undermines cell-cell electrical coupling in postnatal cardiomyocytes.
|
| Kapoor N, Galang G, Marbán E, Cho HC.
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| J Biol Chem 286(16):14073-9. Epub 2011 Jan 4.
2011
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| 35 | GJA1, MAP2K4
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| Mitogen-activated protein kinase kinase 4 deficiency in cardiomyocytes causes connexin 43 reduction and couples hypertrophic signals to ventricular arrhythmogenesis.
|
| Zi M, Kimura TE, Liu W, Jin J, Higham J, Kharche S, Hao G, Shi Y, Shen W, Prehar S, Mironov A, Neyses L, Bierhuizen MF, Boyett MR, Zhang H, Lei M, Cartwright EJ, Wang X.
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| J Biol Chem 286(20):17821-30. Epub 2011 Mar 28. No abstract available.
2011
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| 36 | GJA1, POR
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| Regulation of gap junction function and Connexin 43 expression by cytochrome P450 oxidoreductase (CYPOR).
|
| Polusani SR, Kar R, Riquelme MA, Masters BS, Panda SP.
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| Biochem Biophys Res Commun 411(3):490-5. Epub 2011 Jun 25.
2011
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| 37 | GJA1, GJA5, IRX3
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| Iroquois homeobox gene 3 establishes fast conduction in the cardiac His-Purkinje network.
|
| Zhang SS, Kim KH, Rosen A, Smyth JW, Sakuma R, Delgado-Olguín P, Davis M, Chi NC, Puviindran V, Gaborit N, Sukonnik T, Wylie JN, Brand-Arzamendi K, Farman GP, Kim J, Rose RA, Marsden PA, Zhu Y, Zhou YQ, Miquerol L, Henkelman RM, Stainier DY, Shaw RM, Hui CC, Bruneau BG, Backx PH.
|
| Proc Natl Acad Sci U S A 108(33):13576-81. Epub 2011 Aug 8.
2011
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| 38 | GJA1, NONO
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| p54nrb is a new regulator of progression of malignant melanoma.
|
| Schiffner S, Zimara N, Schmid R, Bosserhoff AK.
|
| Carcinogenesis 32(8):1176-82. doi: 10.1093/carcin/bgr103. Epub 2011 Jun 3.
2011
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| 39 | DFNB34, GJA1, GJA1P1
|
| Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss.
|
| Hong HM, Yang JJ, Shieh JC, Lin ML, Li SY.
|
| Hum Genet 127(5):545-51. Epub 2010 Feb 4. Erratum in: Hum Genet. 2010 Mar;127(5):553. Li, Mei-Ling [corrected to Lin, Mei-Ling]. 2010
|
| 40 | GJA1
|
| Connexin 43 is critical to maintain the homeostasis of the blood-testis barrier via its effects on tight junction reassembly.
|
| Li MW, Mruk DD, Lee WM, Cheng CY.
|
| Proc Natl Acad Sci U S A 107(42):17998-8003. Epub 2010 Oct 4.
2010
|
| 41 | GJA1, ODDD
|
| A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.
|
| Jamsheer A, Badura-Stronka M, Sowińska A, Debicki S, Kiryluk K, Latos-Bieleńska A.
|
| Clin Genet 78(1):94-7. No abstract available.
2010
|
| 42 | CCN3, GJA1
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| More insights into the CCN3/Connexin43 interaction complex and its role for signaling.
|
| Gellhaus A, Wotzlaw C, Otto T, Fandrey J, Winterhager E.
|
| J Cell Biochem 110(1):129-40. 2010
|
| 43 | CONNEXIN 43, GJA1
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| Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)
|
| Musa FU, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, Willoughby CE
|
| Eye 23(3):549-55 2009
|
| 44 | GJA1, ODDD
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| GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
|
| Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW.
|
| Hum Mutat 30(5):724-33. Review.
2009
|
| 45 | GJA1, PKP2
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| Connexin 43 and plakophilin-2 as a protein complex that regulates blood-testis barrier dynamics.
|
| Li MW, Mruk DD, Lee WM, Cheng CY.
|
| Proc Natl Acad Sci U S A 106(25):10213-8. Epub 2009 Jun 9.
2009
|
| 46 | GJA1, HAND1, HLHS1, HLHS2, HLHS3, NKX2-5, NOTCH1
|
| Hypoplastic left heart syndrome: new genetic insights.
|
| Grossfeld P, Ye M, Harvey R.
|
| J Am Coll Cardiol 53(12):1072-4. No abstract available.
2009
|
| 47 | GJA1, GJA10, GJB1, GJD2
|
| The diverse functional roles and regulation of neuronal gap junctions in the retina.
|
| Bloomfield SA, Völgyi B.
|
| Nat Rev Neurosci. 10(7):495-506. 2009
|
| 48 | GJA1, GJA5
|
| Characterization of the structure and intermolecular interactions between the connexin40 and connexin43 carboxyl-terminal and cytoplasmic loop domains.
|
| Bouvier D, Spagnol G, Chenavas S, Kieken F, Vitrac H, Brownell S, Kellezi A, Forge V, Sorgen PL.
|
| J Biol Chem 284(49):34257-71. Epub 2009 Oct 5.PMID: 19808665 2009
|
| 49 | ERP29, GJA1
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| ERp29 restricts Connexin43 oligomerization in the endoplasmic reticulum.
|
| Das S, Smith TD, Sarma JD, Ritzenthaler JD, Maza J, Kaplan BE, Cunningham LA, Suaud L, Hubbard MJ, Rubenstein RC, Koval M.
|
| Mol Biol Cell 20(10):2593-604. Epub 2009 Mar 25.
2009
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| 50 | GJA1
|
| Connexin 43 contributes to differentiation of retinal pigment epithelial cells via cyclic AMP signaling.
|
| Kojima A, Nakahama K, Ohno-Matsui K, Shimada N, Mori K, Iseki S, Sato T, Mochizuki M, Morita I.
|
| Biochem Biophys Res Commun 366(2):532-8. Epub 2007 Dec 7. 2008
|
| 51 | GJB2, GJA1
|
| Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
|
| Laird DW.
|
| J Biol Chem 283(6):2997-3001. Epub 2007 Dec 18. 2008
|
| 52 | GJA1, ODDD
|
| Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.
|
| Feller L, Wood NH, Sluiter MD, Noffke C, Raubenheimer EJ, Lemmer J, van Rensburg EJ.
|
| Am J Med Genet A 146A(10):1350-3. No abstract available. 2008
|
| 53 | GJA1
|
| Functional consequences of overexpressing the gap junction Cx43 in the cardiogenic potential of pluripotent human embryonic stem cells.
|
| Moore JC, Tsang SY, Rushing SN, Lin D, Tse HF, Chan CW, Li RA.
|
| Biochem Biophys Res Commun 377(1):46-51. Epub 2008 Sep 25.
2008
|
| 54 | GJA1, TJP1
|
| Domain-swapped dimerization of ZO-1 PDZ2 generates specific and regulatory connexin43-binding sites.
|
| Chen J, Pan L, Wei Z, Zhao Y, Zhang M.
|
| EMBO J 27(15):2113-23. Epub 2008 Jul 17.
2008
|
| 55 | GJA1, TJP1
|
| Gap junction remodelling in human heart failure is associated with increased interaction of connexin43 with ZO-1.
|
| Bruce AF, Rothery S, Dupont E, Severs NJ.
|
| Cardiovasc Res 77(4):757-65. Epub 2007 Dec 4.
2008
|
| 56 | GJA1
|
| Mitochondrial connexin43 as a new player in the pathophysiology of myocardial ischaemia-reperfusion injury.
|
| Ruiz-Meana M, Rodríguez-Sinovas A, Cabestrero A, Boengler K, Heusch G, Garcia-Dorado D.
|
| Cardiovasc Res 77(2):325-33. Epub 2007 Nov 9.PMID: 18006437 2008
|
| 57 | GJA1, ODDD
|
| ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation.
|
| McLachlan E, Plante I, Shao Q, Tong D, Kidder GM, Bernier SM, Laird DW.
|
| J Bone Miner Res 23(6):928-38.PMID: 18269311 2008
|
| 58 | GJA1, GJA5, GJC1
|
| Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45.
|
| Rackauskas M, Kreuzberg MM, Pranevicius M, Willecke K, Verselis VK, Bukauskas FF.
|
| Biophys J 92(6):1952-65. Epub 2006 Dec 22. 2007
|
| 59 | CALM1, GJA1
|
| Identification of the calmodulin binding domain of connexin 43.
|
| Zhou Y, Yang W, Lurtz MM, Ye Y, Huang Y, Lee HW, Chen Y, Louis CF, Yang JJ.
|
| J Biol Chem 282(48):35005-17. Epub 2007 Sep 27. 2007
|
| 60 | CONNEXIN 43, GJA1
|
| Gap junction adhesion is necessary for radial migration in the neocortex
|
| Elias, L. A. B.; Wang, D. D.; Kriegstein, A. R.
|
| Nature 448: 901-907 2007
|
| 61 | CONNEXIN 43, GJA1
|
| Connexin-43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells
|
| Oxford, E. M.; Musa, H.; Maass, K.; Coombs, W.; Taffet, S. M.; Delmar, M.
|
| Circ. Res. 101: 703-711 2007
|
| 62 | CONNEXIN 43, GJA1
|
| Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia
|
| Kalcheva, N.; Qu, J.; Sandeep, N.; Garcia, L.; Zhang, J.; Wang, Z.; Lampe, P. D.; Suadicani, S. O.; Spray, D. C.; Fishman, G. I.
|
| Proc. Nat. Acad. Sci 104: 20512-20516 2007
|
| 63 | GJA1, TJP1
|
| Zonula occludens-1 and connexin 43 expression in the failing human heart.
|
| Kostin S.
|
| J Cell Mol Med 11(4):892-5.
2007
|
| 64 | ODDD, GJA1
|
| Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
|
| Lai A, Le DN, Paznekas WA, Gifford WD, Jabs EW, Charles AC.
|
| J Cell Sci 119(Pt 3):532-41. Epub 2006 Jan 17. 2006
|
| 65 | GJA1, ODDD
|
| A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.
|
| Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G.
|
| Eur J Dermatol 16(3):241-5. 2006
|
| 66 | GJA1, ODDD
|
| Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma.
|
| Gong XQ, Shao Q, Lounsbury CS, Bai D, Laird DW.
|
| J Biol Chem 281(42):31801-11. Epub 2006 Aug 6. 2006
|
| 67 | CONNEXIN 43, GJA1
|
| Connexin 43 mediates spread of Ca(2+)-dependent proinflammatory responses in lung capillaries.
|
| Parthasarathi, K.; Ichimura, H.; Monma, E.; Lindert, J.; Quadri, S.; Issekutz, A.; Bhattacharya, J.
|
| J. Clin. Invest. 116: 2193-2200 2006
|
| 68 | GJA1, ODDD
|
| A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
|
| Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S.
|
| Am J Med Genet A 133(1):58-60. 2005
|
| 69 | ODDD, GJA1
|
| Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
|
| Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP.
|
| Eur J Med Genet 48(4):377-87. 2005
|
| 70 | GJA1, ODDD
|
| Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.
|
| Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H.
|
| Circ Res 96(10):e83-91. Epub 2005 May 5. 2005
|
| 71 | TJP1, GJA1
|
| ZO-1 alters the plasma membrane localization and function of Cx43 in osteoblastic cells.
|
| Laing JG, Chou BC, Steinberg TH.
|
| J Cell Sci 118(Pt 10):2167-76. Epub 2005 Apr 26. 2005
|
| 72 | GJA1, RIC1
|
| Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150.
|
| Akiyama M, Ishida N, Ogawa T, Yogo K, Takeya T.
|
| Biochem Biophys Res Commun 335(4):1264-71. 2005
|
| 73 | GJA1
|
| Novel rab GAP-like protein, CIP85, interacts with connexin43 and induces its degradation.
|
| Lan Z, Kurata WE, Martyn KD, Jin C, Lau AF.
|
| Biochemistry. 44(7):2385-96. 2005
|
| 74 | ODDD, GJA1
|
| Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
|
| Richardson R, Donnai D, Meire F, Dixon MJ.
|
| J Med Genet 41(1):60-7. No abstract available. 2004
|
| 75 | ODDD, GJA1
|
| Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.
|
| Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N.
|
| Am J Med Genet 127A(2):152-7. 2004
|
| 76 | CONNEXIN 43, GJA1
|
| Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43.
|
| Maass, K.; Ghanem, A.; Kim, J.-S.; Saathoff, M.; Urschel, S.; Kirfel, G.; Grummer, R.; Kretz, M.; Lewalter, T.; Tiemann, K.; Winterhager, E.; Herzog, V.; Willecke, K.
|
| Molec. Biol. Cell 15: 4597-4608 2004
|
| 77 | GJA1
|
| Connexin43 interacts with NOV: a possible mechanism for negative regulation of cell growth in choriocarcinoma cells.
|
| Gellhaus A, Dong X, Propson S, Maass K, Klein-Hitpass L, Kibschull M, Traub O, Willecke K, Perbal B, Lye SJ, Winterhager E.
|
| J Biol Chem. 279(35):36931-42. 2004
|
| 78 | GJA1, ODDD
|
| Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
|
| Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW.
|
| Am J Hum Genet 72(2):408-18. 2003
|
| 79 | CONNEXIN 43, GJA1
|
| Significance of mRNA levels of connexin37, connexin43, and connexin45 in luteinized granulosa cells of controlled hyperstimulated follicles
|
| Tsai MY, Lan KC, Huang KE, Huang FJ, Kung FT, Chang SY
|
| Fertil Steril. 80(6):1437-43. 2003
|
| 80 | GJA1
|
| Regulation of epidermal growth factor-induced connexin 43 gap junction communication by big mitogen-activated protein kinase1/ERK5 but not ERK1/2 kinase activation.
|
| Cameron SJ, Malik S, Akaike M, Lerner-Marmarosh N, Yan C, Lee JD, Abe J, Yang J.
|
| J Biol Chem. 278(20):18682-8. 2003
|
| 81 | CONNEXIN 43, GJA1
|
| Immunohistochemical and ultrastructural study of gap junction proteins connexin26 and 43 in human arachnoid villi and meningeal tumors
|
| Arishima H, Sato K, Kubota T.
|
| J Neuropathol Exp Neurol. 61(12):1048-55 2002
|
| 82 | GJA1
|
| Connexin family members target to lipid raft domains and interact with caveolin-1.
|
| Schubert AL, Schubert W, Spray DC, Lisanti MP.
|
| Biochemistry. 41(18):5754-64. 2002
|
| 83 | GJA1
|
| Casein kinase 1 regulates connexin-43 gap junction assembly.
|
| Cooper CD, Lampe PD.
|
| J Biol Chem. 277(47):44962-8. 2002
|
| 84 | DFNB34, GJA1
|
| Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.
|
| Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE.
|
| Hum Mol Genet 10(25):2945-51. 2001
|
| 85 | GJA1, GJA5
|
| Altered connexin expression in human congestive heart failure.
|
| Dupont E, Matsushita T, Kaba RA, Vozzi C, Coppen SR, Khan N, Kaprielian R, Yacoub MH, Severs NJ.
|
| J Mol Cell Cardiol 33(2):359-71. 2001
|
| 86 | GJA1, HLHS1
|
| Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
|
| Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH.
|
| Mutat Res 479(1-2):173-86. 2001
|
| 87 | GJA1, GJA5, GJC1
|
| Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts.
|
| Kaba RA, Coppen SR, Dupont E, Skepper JN, Elneil S, Haw MP, Pepper JR, Yacoub MH, Rothery S, Severs NJ.
|
| Cell Commun Adhes 8(4-6):339-43.
2001
|
| 88 | GJA1, GJC1, TJP1
|
| Connexin45 interacts with zonula occludens-1 and connexin43 in osteoblastic cells.
|
| Laing JG, Manley-Markowski RN, Koval M, Civitelli R, Steinberg TH.
|
| J Biol Chem 276(25):23051-5. Epub 2001 Apr 19.
2001
|
| 89 | CONNEXIN 43, GJA1
|
| Endothelial cell-specific knockout of connexin 43 causes hypotension and bradycardia in mice.
|
| Liao, Y.; Day, K. H.; Damon, D. N.; Duling, B. R.
|
| Proc. Nat. Acad. Sci. 98: 9989-9994 2001
|
| 90 | GJA1, GJA3
|
| Multimeric connexin interactions prior to the trans-Golgi network.
|
| Das Sarma J, Meyer RA, Wang F, Abraham V, Lo CW, Koval M.
|
| J Cell Sci. 114(Pt 22):4013-24. 2001
|
| 91 | GJA1
|
| Gap junction channels formed by coexpressed connexin40 and connexin43.
|
| Valiunas V, Gemel J, Brink PR, Beyer EC.
|
| Am J Physiol Heart Circ Physiol. 281(4):H1675-89. 2001
|
| 92 | AVSD3, GJA1
|
| Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
|
| Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH.
|
| Mutat Res 479(1-2):173-86.
2001
|
| 93 | GJA1
|
| Expression of connexin 43 (Cx43) is critical for normal hematopoiesis.
|
| Montecino-Rodriguez E, Leathers H, Dorshkind K.
|
| Blood 96(3):917-24. 2000
|
| 94 | CONNEXIN 43, GJA1
|
| Intercellular communication in the immune system: differential expression of connexin40 and 43, and perturbation of gap junction channel functions in peripheral blood and tonsil human lymphocyte subpopulations
|
| Oviedo-Orta E, Hoy T, Evans WH.
|
| Immunology. 99(4):578-90 2000
|
| 95 | GJA1
|
| Deficiency of connexin43 gap junctions is an independent marker for breast tumors.
|
| Laird DW, Fistouris P, Batist G, Alpert L, Huynh HT, Carystinos GD, Alaoui-Jamali MA.
|
| Cancer Res 59(16):4104-10 1999
|
| 96 | CONNEXIN 43, GJA1
|
| Heart defects in connexin43-deficient mice
|
| Ya, J.; Erdstieck-Ernste, E. B. H. W.; de Boer, P. A. J.; van Kempen, M. J. A.; Jongsma, H.; Gros, D.; Moorman, A. F. M.; Lamers, W. H.
|
| Circ. Res. 82: 360-366 1998
|
| 97 | GJA1,ODDD
|
| Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.
|
| Gladwin A, et al.
|
| Hum Mol Genet 6 : 123-127. 1997
|
| 98 | GJA1
|
| Assignment of the human connexin43 gene, GJA1, to chromosome 6q22.3.
|
| Kato R, Matsumoto N, Niikawa N.
|
| Jpn J Hum Genet 42(1):213-6. 1997
|
| 99 | GJA1, HTX2
|
| Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.
|
| Penman Splitt M, Tsai MY, Burn J, Goodship JA.
|
| Heart 77(4):369-70. 1997
|
| 100 | GJA1
|
| Tyrosine phosphorylation of connexin 43 by v-Src is mediated by SH2 and SH3 domain interactions.
|
| Kanemitsu MY, Loo LW, Simon S, Lau AF, Eckhart W.
|
| J Biol Chem. 272(36):22824-31. 1997
|
| 101 | GJA1
|
| Connexin43 is another gap junction protein in the peripheral nervous system.
|
| Yoshimura T, et al.
|
| J Neurochem 67 : 1252-1258. 1996
|
| 102 | GJA1, HTX2
|
| Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy.
|
| Gebbia M, et al.
|
| Circulation 94 : 1909-1912. 1996
|
| 103 | HTX2, GJA1
|
| Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality.
|
| Britz-Cunningham SH, et al.
|
| N Engl J Med 332 : 1323-1329. 1995
|
| 104 | CONNEXIN 43, GJA1
|
| Cardiac malformation in neonatal mice lacking connexin43
|
| Reaume, A. G.; de Sousa, P. A.; Kulkarni, S.; Langille, B. L.; Zhu, D.; Davies, T. C.; Juneja, S. C.; Kidder, G. M.; Rossant, J.
|
| Science 267: 1831-1834 1995
|
| 105 | GJA1, GJA5, GJD3
|
| Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45.
|
| Kanter HL, et al.
|
| J Mol Cell Cardiol 26 : 861-868. 1994
|
| 106 | GJA1
|
| Human connexin 43 gene locus, GJA1, sublocalized to band 6q21-q23.2.
|
| Corcos IA, et al.
|
| Cytogenet Cell Genet 64 : 31-32. 1993
|
| 107 | GJA1, connexin 43
|
| Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines
|
| Lee SW, Tomasetto C, Paul D, Keyomarsi K, Sager R.
|
| J Cell Biol. 118(5):1213-21 1992
|
| 108 | 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
|
| 109 | 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
|
| 110 | GJA1
|
| Mapping of human liver GAP junction gene to chromosome 6.
|
| Jayakar P, et al.
|
| Am J Hum Genet 45 : A144. 1989
|