| 1 | CYBB, GJA1, GJA5
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| Intermittent hypoxia causes NOX2-dependent remodeling of atrial connexins.
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| 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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| 2 | 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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| 3 | GJA5
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| A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
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| Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A.
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| Eur J Hum Genet 21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20.
2013
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| 4 | CHRM3, GJA4, GJA5
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| Connexins and M3 muscarinic receptors contribute to heterogeneous Ca(2+) signaling in mouse aortic endothelium.
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| Boittin FX, Alonso F, Le Gal L, Allagnat F, Bény JL, Haefliger JA.
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| Cell Physiol Biochem 31(1):166-78. doi: 10.1159/000343358. Epub 2013 Feb 1.
2013
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| 5 | GJA5
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| Regulation of endothelial connexin40 expression by shear stress.
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| Vorderwülbecke BJ, Maroski J, Fiedorowicz K, Da Silva-Azevedo L, Marki A, Pries AR, Zakrzewicz A.
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| Am J Physiol Heart Circ Physiol 302(1):H143-52. Epub 2011 Oct 21.
2012
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| 6 | CNOT6, CYFIP1, EDIL3, FDFT1, GATA4, GJA5, HAND2, NEIL2, NIPA1, NIPA2, TUBGCP5
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| Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
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| Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.
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| Am J Hum Genet 91(3):489-501. Epub 2012 Aug 30.
2012
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| 7 | DEL1Q21D, DUP1Q21D, GJA5
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| Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
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| Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.
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| Hum Mol Genet 21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22.
2012
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| 8 | GJA5
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| Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
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| Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.
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| Hum Mol Genet 21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22.
2012
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| 9 | GJA1, GJA5, IRX3
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| Iroquois homeobox gene 3 establishes fast conduction in the cardiac His-Purkinje network.
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| 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.
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| Proc Natl Acad Sci U S A 108(33):13576-81. Epub 2011 Aug 8.
2011
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| 10 | GJA5
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| The connexin 40 A96S mutation causes renin-dependent hypertension.
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| Lübkemeier I, Machura K, Kurtz L, Neubauer B, Dobrowolski R, Schweda F, Wagner C, Willecke K, Kurtz A.
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| J Am Soc Nephrol 22(6):1031-40. Epub 2011 May 19.
2011
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| 11 | ATFB11, GJA5
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| Connexin40 nonsense mutation in familial atrial fibrillation.
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| Yang YQ, Zhang XL, Wang XH, Tan HW, Shi HF, Jiang WF, Fang WY, Liu X.
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| Int J Mol Med 26(4):605-10.
2010
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| 12 | ATFB11, GJA5
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| Novel connexin40 missense mutations in patients with familial atrial fibrillation.
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| Yang YQ, Liu X, Zhang XL, Wang XH, Tan HW, Shi HF, Jiang WF, Fang WY.
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| Europace 12(10):1421-7. Epub 2010 Jul 21.
2010
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| 13 | GJA5
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| High-level connexin expression in the human juxtaglomerular apparatus.
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| Kurtz L, Madsen K, Kurt B, Jensen BL, Walter S, Banas B, Wagner C, Kurtz A.
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| Nephron Physiol 116(1):p1-8. Epub 2010 Jun 8.
2010
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| 14 | GJA5
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| Pulsatile shear and Gja5 modulate arterial identity and remodeling events during flow-driven arteriogenesis.
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| Buschmann I, Pries A, Styp-Rekowska B, Hillmeister P, Loufrani L, Henrion D, Shi Y, Duelsner A, Hoefer I, Gatzke N, Wang H, Lehmann K, Ulm L, Ritter Z, Hauff P, Hlushchuk R, Djonov V, van Veen T, le Noble F.
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| Development 137(13):2187-96.
2010
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| 15 | GJA1, GJA5
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| Characterization of the structure and intermolecular interactions between the connexin40 and connexin43 carboxyl-terminal and cytoplasmic loop domains.
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| Bouvier D, Spagnol G, Chenavas S, Kieken F, Vitrac H, Brownell S, Kellezi A, Forge V, Sorgen PL.
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| J Biol Chem 284(49):34257-71. Epub 2009 Oct 5.PMID: 19808665 2009
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| 16 | ATFB11, GJA5
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| The role of connexin40 in atrial fibrillation.
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| Chaldoupi SM, Loh P, Hauer RN, de Bakker JM, van Rijen HV.
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| Cardiovasc Res 84(1):15-23. Epub 2009 Jun 17. Review.
2009
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| 17 | GJA5
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| Connexin 40 mediates the tubuloglomerular feedback contribution to renal blood flow autoregulation.
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| Just A, Kurtz L, de Wit C, Wagner C, Kurtz A, Arendshorst WJ.
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| J Am Soc Nephrol 20(7):1577-85. Epub 2009 May 14.
2009
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| 18 | GJA5
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| Connexin40 imparts conduction heterogeneity to atrial tissue.
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| Leaf DE, Feig JE, Vasquez C, Riva PL, Yu C, Lader JM, Kontogeorgis A, Baron EL, Peters NS, Fisher EA, Gutstein DE, Morley GE.
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| Circ Res 103(9):1001-8. Epub 2008 Jul 3.
2008
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| 19 | GJA5
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| Connexin 40 and ATP-dependent intercellular calcium wave in renal glomerular endothelial cells.
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| Toma I, Bansal E, Meer EJ, Kang JJ, Vargas SL, Peti-Peterdi J.
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| Am J Physiol Regul Integr Comp Physiol 294(6):R1769-76. Epub 2008 Apr 9.
2008
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| 20 | GJA1, GJA5, GJC1
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| Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45.
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| Rackauskas M, Kreuzberg MM, Pranevicius M, Willecke K, Verselis VK, Bukauskas FF.
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| Biophys J 92(6):1952-65. Epub 2006 Dec 22. 2007
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| 21 | ATFB1A, GJA5
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| Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
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| Gollob MH, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q, Liu X, Veinot JP, Tang AS, Stewart AF, Tesson F, Klein GJ, Yee R, Skanes AC, Guiraudon GM, Ebihara L, Bai D.
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| N Engl J Med 354(25):2677-88. 2006
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| 22 | GJA5
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| Polymorphisms in human connexin40 gene promoter are associated with increased risk of hypertension in men.
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| Firouzi M, Kok B, Spiering W, Busjahn A, Bezzina CR, Ruijter JM, Koeleman BP, Schipper M, Groenewegen WA, Jongsma HJ, de Leeuw PW.
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| J Hypertens 24(2):325-30. 2006
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| 23 | GJA5
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| The human Cx40 promoter polymorphism -44G-->A differentially affects transcriptional regulation by Sp1 and GATA4.
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| Firouzi M, Bierhuizen MF, Kok B, Teunissen BE, Jansen AT, Jongsma HJ, Groenewegen WA.
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| Biochim Biophys Acta 1759(10):491-6. Epub 2006 Sep 16.
2006
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| 24 | GJA5
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| Human mesenchymal stem cells make cardiac connexins and form functional gap junctions.
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| Valiunas V, Doronin S, Valiuniene L, Potapova I, Zuckerman J, Walcott B, Robinson RB, Rosen MR, Brink PR, Cohen IS.
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| J Physiol 555(Pt 3):617-26. Epub 2004 Feb 06. 2004
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| 25 | ACP6, DEL1Q21D, GJA5, GJA8
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| Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
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| Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somerville MJ.
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| Circ Res 94(11):1429-35. Epub 2004 Apr 29. 2004
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| 26 | GJA5
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| Genomic organization and alternative transcripts of the human Connexin40 gene.
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| Dupays L, Mazurais D, Rucker-Martin C, Calmels T, Bernot D, Cronier L, Malassine A, Gros D, Theveniau-Ruissy M.
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| Gene 305(1):79-90. 2003
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| 27 | ATFB1A, CMD1E, GJA5, SCN5A
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| A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.
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| Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA.
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| Circ Res 92(1):14-22. 2003
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| 28 | GJA1, GJA5
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| Altered connexin expression in human congestive heart failure.
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| Dupont E, Matsushita T, Kaba RA, Vozzi C, Coppen SR, Khan N, Kaprielian R, Yacoub MH, Severs NJ.
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| J Mol Cell Cardiol 33(2):359-71. 2001
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| 29 | GJA1, GJA5, GJC1
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| Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts.
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| Kaba RA, Coppen SR, Dupont E, Skepper JN, Elneil S, Haw MP, Pepper JR, Yacoub MH, Rothery S, Severs NJ.
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| Cell Commun Adhes 8(4-6):339-43.
2001
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| 30 | GJA5
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| Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor A genes on 1q21.
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| Gelb BD, et al.
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| Genomics 39 : 409-411. 1997
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| 31 | GJA1, GJA5, GJD3
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| Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45.
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| Kanter HL, et al.
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| J Mol Cell Cardiol 26 : 861-868. 1994
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| 32 | GJA4, GJA5
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| Connexin family of gap junction proteins.
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| Beyer EC, et al.
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| J Membr Biol 110 : 187-194. 1990
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| 33 | GJA4, GJA5
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| Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes.
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| Willecke K, et al.
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| Eur J Cell Biol 53 : 275-280. 1990
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| 34 | GJA4, GJA5
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| Modulation of gap junction transcript and protein expression during pregnancy in the rat.
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| Risek B, et al.
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| J Cell Biol 110 : 269-282. 1990
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