| 1 | NKX2-5, SMAD4
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| Smad4 regulates the nuclear translocation of Nkx2-5 in cardiac differentiation.
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| Hu W, Dong A, Karasaki K, Sogabe S, Okamoto D, Saigo M, Ishida M, Yoshizumi M, Kokubo H
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| Sci Rep. Feb 11;11(1):3588. doi: 10.1038/s41598-021-82954-2 2021
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| 2 | FBXO25, NKX2-5, TBX5
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| Fbxo25 controls Tbx5 and Nkx2-5 transcriptional activity to regulate cardiomyocyte development.
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| Jeong HS, Jung ES, Sim YJ, Kim SJ, Jang JW, Hong KS, Lee WY, Chung HM, Park KT, Jung YS, Kim CH, Kim KS.
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| Biochim Biophys Acta iochim Biophys Acta. 2015 Feb 25. pii: S1874-9399(15)00050-4. doi: 10.1016/j.bbagrm.2015.02.002. [Epub ahead of print]
2015
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| 3 | GATA4, LRRC10, NKX2-5
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| Lrrc10 is a novel cardiac-specific target gene of Nkx2-5 and GATA4.
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| Brody MJ, Cho E, Mysliwiec MR, Kim TG, Carlson CD, Lee KH, Lee Y.
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| J Mol Cell Cardiol 62:237-46. doi: 10.1016/j.yjmcc.2013.05.020. Epub 2013 Jun 7.
2013
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| 4 | NKX2-5
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| Nkx genes are essential for maintenance of ventricular identity.
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| Targoff KL, Colombo S, George V, Schell T, Kim SH, Solnica-Krezel L, Yelon D.
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| Development 140(20):4203-13. doi: 10.1242/dev.095562. Epub 2013 Sep 11.
2013
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| 5 | HOXA10, NKX2-5
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| Nkx2-5 mediates differential cardiac differentiation through interaction with Hoxa10.
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| Behrens AN, Iacovino M, Lohr JL, Ren Y, Zierold C, Harvey RP, Kyba M, Garry DJ, Martin CM.
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| Stem Cells Dev 22(15):2211-20. doi: 10.1089/scd.2012.0611. Epub 2013 Apr 9.
2013
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| 6 | NKX2-5, PPP1R12A
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| Myosin phosphatase modulates the cardiac cell fate by regulating the subcellular localization of Nkx2.5 in a Wnt/Rho-associated protein kinase-dependent pathway.
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| Ryan T, Shelton M, Lambert JP, Malecova B, Boisvenue S, Ruel M, Figeys D, Puri PL, Skerjanc IS.
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| Circ Res 112(2):257-66. doi: 10.1161/CIRCRESAHA.112.275818. Epub 2012 Nov 20.
2013
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| 7 | CITED2, NFATC4, NKX2-5, POU5F1
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| Cited2 gene controls pluripotency and cardiomyocyte differentiation of murine embryonic stem cells through Oct4 gene.
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| Li Q, Ramírez-Bergeron DL, Dunwoodie SL, Yang YC.
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| J Biol Chem 287(34):29088-100. doi: 10.1074/jbc.M112.378034. Epub 2012 Jul 3.
2012
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| 8 | FBXO25, HAND1, ISL1, NKX2-5
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| A novel Fbxo25 acts as an E3 ligase for destructing cardiac specific transcription factors.
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| Jang JW, Lee WY, Lee JH, Moon SH, Kim CH, Chung HM.
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| Biochem Biophys Res Commun 410(2):183-8. Epub 2011 May 7.
2011
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| 9 | NKX2-5
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| Novel NKX2-5 mutations responsible for congenital heart disease.
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| Wang J, Liu XY, Yang YQ.
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| Genet Mol Res 10(4):2905-15.
2011
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| 10 | NKX2-5, SUMO1
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| Complex SUMO-1 regulation of cardiac transcription factor Nkx2-5.
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| Costa MW, Lee S, Furtado MB, Xin L, Sparrow DB, Martinez CG, Dunwoodie SL, Kurtenbach E, Mohun T, Rosenthal N, Harvey RP.
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| PLoS One 6(9):e24812. Epub 2011 Sep 12. 2011
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| 11 | CSX, NKX2-5
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| Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
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| Stallmeyer B, Fenge H, Nowak-Göttl U, Schulze-Bahr E.
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| Clin Genet lin Genet. 2010 Apr 20. [Epub ahead of print]PMID: 20456451 2010
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| 12 | CSX, CTHM1, DEL22Q11, ICHD, JAG1, NKX2-5, TBX1, TRI21
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| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
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| Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.
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| J Med Genet 47(5):321-31. Epub 2009 Nov 30.PMID: 19948535 2010
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| 13 | GATA4, GATA5, NKX2-5, TBX
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| A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
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| Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, Kersten A, Perrot A, Panek AN, Al Khatib IH, Nemer G, Mégarbané A, Dietz R, Stiller B, Berger F, Harvey RP, Ozcelik C.
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| J Med Genet 47(4):230-5. Epub 2009 Sep 16.
2010
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| 14 | ETV2, NKX2-5
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| Nkx2-5 transactivates the Ets-related protein 71 gene and specifies an endothelial/endocardial fate in the developing embryo.
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| Ferdous A, Caprioli A, Iacovino M, Martin CM, Morris J, Richardson JA, Latif S, Hammer RE, Harvey RP, Olson EN, Kyba M, Garry DJ.
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| Proc Natl Acad Sci U S A 106(3):814-9. Epub 2009 Jan 7.
2009
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| 15 | NKX2-5
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| Investigation of somatic NKX2-5 mutations in congenital heart disease.
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| Draus JM Jr, Hauck MA, Goetsch M, Austin EH 3rd, Tomita-Mitchell A, Mitchell ME.
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| J Med Genet 46(2):115-22.
2009
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| 16 | NKX2-5, NSD2, WHSCR
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| A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.
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| Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz RJ, Kaneda Y.
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| Nature 460(7252):287-91. Epub 2009 May 31. 2009
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| 17 | GATA4, NKX2-5
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| Cardiac differentiation is driven by NKX2.5 and GATA4 nuclear translocation in tissue-specific mesenchymal stem cells.
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| Armiñán A, Gandía C, Bartual M, García-Verdugo JM, Lledó E, Mirabet V, Llop M, Barea J, Montero JA, Sepúlveda P.
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| Stem Cells Dev 18(6):907-18.
2009
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| 18 | GATA4, NKX2-5
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| NKX2-5 regulates the expression of beta-catenin and GATA4 in ventricular myocytes.
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| Riazi AM, Takeuchi JK, Hornberger LK, Zaidi SH, Amini F, Coles J, Bruneau BG, Van Arsdell GS.
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| PLoS One 4(5):e5698.
2009
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| 19 | LAMP2, NKX2-5, PRKAG2
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| Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
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| Esposito G, Grutter G, Drago F, Costa MW, De Santis A, Bosco G, Marino B, Bellacchio E, Lepri F, Harvey RP, Sarkozy A, Dallapiccola B.
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| Am J Med Genet A 149A(7):1574-7. No abstract available. PMID: 19533775 2009
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| 20 | GJA1, HAND1, HLHS1, HLHS2, HLHS3, NKX2-5, NOTCH1
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| Hypoplastic left heart syndrome: new genetic insights.
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| Grossfeld P, Ye M, Harvey R.
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| J Am Coll Cardiol 53(12):1072-4. No abstract available.
2009
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| 21 | ASD2, ASD3, GATA4, ICHD, JAG1, MYH6, NKX2-5, NOTCH1, TBX1, TBX20, TBX5, TFAP2B, THRAP2
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| The developmental genetics of congenital heart disease.
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| Bruneau BG.
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| Nature 451(7181):943-8. 2008
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| 22 | ITPR3, NKX2-5
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| A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population.
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| Oishi T, Iida A, Otsubo S, Kamatani Y, Usami M, Takei T, Uchida K, Tsuchiya K, Saito S, Ohnisi Y, Tokunaga K, Nitta K, Kawaguchi Y, Kamatani N, Kochi Y, Shimane K, Yamamoto K, Nakamura Y, Yumura W, Matsuda K.
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| J Hum Genet 53(2):151-62. Epub 2008 Jan 25. 2008
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| 23 | BMP4, CRELD1, GATA4, NKX2-5
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| Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.
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| Posch MG, Perrot A, Schmitt K, Mittelhaus S, Esenwein EM, Stiller B, Geier C, Dietz R, Gessner R, Ozcelik C, Berger F.
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| Am J Med Genet A 146A(2):251-3. No abstract available.
2008
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| 24 | NKX2-5, NOTCH1
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| Notch1 regulates the fate of cardiac progenitor cells.
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| Boni A, Urbanek K, Nascimbene A, Hosoda T, Zheng H, Delucchi F, Amano K, Gonzalez A, Vitale S, Ojaimi C, Rizzi R, Bolli R, Yutzey KE, Rota M, Kajstura J, Anversa P, Leri A.
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| Proc Natl Acad Sci U S A 105(40):15529-34. Epub 2008 Oct 1. 2008
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| 25 | NKX2-5, TBX20
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| Transcription factor neuromancer/TBX20 is required for cardiac function in Drosophila with implications for human heart disease.
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| Qian L, Mohapatra B, Akasaka T, Liu J, Ocorr K, Towbin JA, Bodmer R.
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| Proc Natl Acad Sci U S A 105(50):19833-8. Epub 2008 Dec 11.
2008
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| 26 | CSX, NKX2-5
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| A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.
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| Pabst S, Wollnik B, Rohmann E, Hintz Y, Glänzer K, Vetter H, Nickenig G, Grohé C.
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| Clin Res Cardiol 97(1):39-42. Epub 2007 Sep 25.PMID: 17891520 2008
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| 27 | CSX, NKX2-5
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| A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
|
| Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, Vikkula M.
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| Eur J Hum Genet 14(12):1313-6. Epub 2006 Aug 9. 2006
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| 28 | NKX2-5
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| Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
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| Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE.
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| J Clin Endocrinol Metab 91(4):1428-33. Epub 2006 Jan 17. 2006
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| 29 | NKX2-5, CSX
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| Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation.
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| Kšnig K, Will JC, Berger F, MŸller D, Benson DW.
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| Clin Res Cardiol 95(9):499-503. Epub 2006 Jul 20. No abstract available. 2006
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| 30 | CHNG7, NKX2-5
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| Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 2006 Apr;91(4):1428-33. doi: 10.1210/jc.2005-1350. Epub 2006 Jan 17. PMID: 16418214.
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| Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE.
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| J Clin Endocrinol Metab. 2006 Apr;91(4):1428-33. doi: 10.1210/jc.2005-1350. Epub 2006 Jan 17 2006
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| 31 | NKX2-5, NKX2-6, CARTPT, CART,CSX
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| Common arterial trunk associated with a homeodomain mutation of NKX2.6.
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| Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P.
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| Hum Mol Genet 14(5):585-93. Epub 2005 Jan 13. 2005
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| 32 | ASD2, CSX, GATA4, NKX2-5
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| Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
|
| Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, Imamura S, Takao A, Nakazawa M, Matsuoka R.
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| Am J Med Genet A 135(1):47-52. 2005
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| 33 | NKX2-5
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| Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.
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| Inga A, Reamon-Buettner SM, Borlak J, Resnick MA.
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| Hum Mol Genet 14(14):1965-75. Epub 2005 May 25. 2005
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| 34 | NKX2-5,CSX
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| Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
|
| Reamon-Buettner SM, Borlak J.
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| J Med Genet 41(9):684-90. 2004
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| 35 | NKX2-5, CSX
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| Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies.
|
| Kasahara H, Benson DW.
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| Cardiovasc Res 64(1):40-51. 2004
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| 36 | NPPA, JARID2, GATA4, NKX2-5
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| Jumonji represses atrial natriuretic factor gene expression by inhibiting transcriptional activities of cardiac transcription factors.
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| Kim TG, Chen J, Sadoshima J, Lee Y.
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| Mol Cell Biol 24(23):10151-60. 2004
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| 37 | NKX2-5,CSX
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| Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
|
| Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP.
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| J Am Coll Cardiol 41(11):2072-6. 2003
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| 38 | NKX2-5, NPPA, PLOD1, PITX2
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| PITX2 isoform-specific regulation of atrial natriuretic factor expression: synergism and repression with Nkx2.5.
|
| Ganga M, Espinoza HM, Cox CJ, Morton L, Hjalt TA, Lee Y, Amendt BA.
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| J Biol Chem 278(25):22437-45. Epub 2003 Apr 11. 2003
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| 39 | CSX, NKX2-5
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| NKX2.5 mutations in patients with congenital heart disease.
|
| McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E.
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| J Am Coll Cardiol 42(9):1650-5. 2003
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| 40 | NKX2-5,CSX
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| Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
|
| Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC.
|
| J Med Genet 39(11):807-11. No abstract available. 2002
|
| 41 | NKX2-5,CSX
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| Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.
|
| Ikeda Y, Hiroi Y, Hosoda T, Utsunomiya T, Matsuo S, Ito T, Inoue J, Sumiyoshi T, Takano H, Nagai R, Komuro I.
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| Circ J 66(6):561-3. 2002
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| 42 | NKX2-5
|
| Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heart.
|
| Toko H, Zhu W, Takimoto E, Shiojima I, Hiroi Y, Zou Y, Oka T, Akazawa H, Mizukami M, Sakamoto M, Terasaki F, Kitaura Y, Takano H, Nagai T, Nagai R, Komuro I.
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| J Biol Chem 277(27):24735-43. Epub 2002 Mar 11. 2002
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| 43 | PHC1, NKX2-5
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| The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis.
|
| Shirai M, Osugi T, Koga H, Kaji Y, Takimoto E, Komuro I, Hara J, Miwa T, Yamauchi-Takihara K, Takihara Y.
|
| J Clin Invest 110(2):177-84. 2002
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| 44 | CALR, NKX2-5, NR2F1
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| COUP-TF1 antagonizes Nkx2.5-mediated activation of the calreticulin gene during cardiac development.
|
| Guo L, Lynch J, Nakamura K, Fliegel L, Kasahara H, Izumo S, Komuro I, Agellon LB, Michalak M.
|
| J Biol Chem 276(4):2797-801. 2001
|
| 45 | NKX2-5
|
| Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein.
|
| Kasahara H, Usheva A, Ueyama T, Aoki H, Horikoshi N, Izumo S.
|
| J Biol Chem 276(7):4570-80. 2001
|
| 46 | CSX, NKX2-5
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| NKX2.5 mutations in patients with tetralogy of fallot
|
| Goldmuntz E, Geiger E, Benson DW.
|
| Circulation 104(21):2565-8. 2001
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| 47 | NKX2-5,CSX, DEL5Q
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| Ventricular noncompaction and distal chromosome 5q deletion.
|
| Pauli RM, et al.
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| Am J Med Genet 85(4):419-23. 1999
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| 48 | HMX1, NKX2-5
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| Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared DNA-binding site.
|
| Amendt BA, Sutherland LB, Russo AF.
|
| J Biol Chem 274(17):11635-42. 1999
|
| 49 | NKX2-5,CSX
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| Congenital heart disease caused by mutations in the transcription factor NKX2-5.
|
| Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, MaronBJ, Seidman CE, Seidman JG.
|
| Science 281(5373):108-11. 1998
|
| 50 | ASD1, ASD7, NKX2-5
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| Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects.
|
| Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, McDonough B, Strauss AW, Seidman JG, Seidman CE.
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| Circulation 97(20):2043-8. 1998
|
| 51 | NKX2-5, D5S2352, D5S2353, D5S2354, D5S2355, D5S2356, D5S2357, D5S2358, D5S2359, D5S2360, D5S2362, D5S2363, D5S2364, D5S2365, D5S2366, D5S2367, D5S2368, D5S2388, D5S2389, D5S2390, D5S2391, D5S2392, D5S2393, D5S2394, D5S2395, D5S2396, D5S2397, D5S2398, D5S2399, D5S2400, D5S2401, D5S2402, D5S2487
|
| Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35.
|
| Kostrzewa M, et al.
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| Hum Genet 97 : 399-403. 1996
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| 52 | NKX2-5
|
| Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx.
|
| Turbay D, et al.
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| Mol Med 2 : 86-96. 1996
|
| 53 | NKX2-5
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| Molecular cloning and characterization of human cardiac homeobox gene CSX1.
|
| Shiojima I, et al.
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| Circ Res 79 : 920-929. 1996
|
| 54 | NKX2-5
|
| Molecular cloning, chromosomal mapping, and characterization of the humancardiac-specific homeobox gene hCsx.
|
| Turbay D, Wechsler SB, Blanchard KM, Izumo S.
|
| Mol Med 2(1):86-96. 1996
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| 55 | NKX2-5, MSX2
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| Assignment of cardiac homeobox gene CSX to human chromosome 5q34.
|
| Shiojima I, Komuro I, Inazawa J, Nakahori Y, Matsushita I, Abe T, NagaiR, Yazaki Y.
|
| Genomics 27(1):204-6. 1995
|