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Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM, Feneley MP, Winlaw DS, Harvey RP. Kirk EP, et al. Among authors: costa mw. Am J Hum Genet. 2007 Aug;81(2):280-91. doi: 10.1086/519530. Epub 2007 Jun 15. Am J Hum Genet. 2007. PMID: 17668378 Free PMC article.
Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.
Costa MW, Guo G, Wolstein O, Vale M, Castro ML, Wang L, Otway R, Riek P, Cochrane N, Furtado M, Semsarian C, Weintraub RG, Yeoh T, Hayward C, Keogh A, Macdonald P, Feneley M, Graham RM, Seidman JG, Seidman CE, Rosenthal N, Fatkin D, Harvey RP. Costa MW, et al. Circ Cardiovasc Genet. 2013 Jun;6(3):238-47. doi: 10.1161/CIRCGENETICS.113.000057. Epub 2013 May 9. Circ Cardiovasc Genet. 2013. PMID: 23661673 Free PMC article.
Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation.
Stennard FA, Costa MW, Lai D, Biben C, Furtado MB, Solloway MJ, McCulley DJ, Leimena C, Preis JI, Dunwoodie SL, Elliott DE, Prall OW, Black BL, Fatkin D, Harvey RP. Stennard FA, et al. Among authors: costa mw. Development. 2005 May;132(10):2451-62. doi: 10.1242/dev.01799. Epub 2005 Apr 20. Development. 2005. PMID: 15843414
GATA4 mutations in 357 unrelated patients with congenital heart malformation.
Butler TL, Esposito G, Blue GM, Cole AD, Costa MW, Waddell LB, Walizada G, Sholler GF, Kirk EP, Feneley M, Harvey RP, Winlaw DS. Butler TL, et al. Among authors: costa mw. Genet Test Mol Biomarkers. 2010 Dec;14(6):797-802. doi: 10.1089/gtmb.2010.0028. Epub 2010 Sep 27. Genet Test Mol Biomarkers. 2010. PMID: 20874241
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
Furtado MB, Wilmanns JC, Chandran A, Perera J, Hon O, Biben C, Willow TJ, Nim HT, Kaur G, Simonds S, Wu Q, Willians D, Salimova E, Plachta N, Denegre JM, Murray SA, Fatkin D, Cowley M, Pearson JT, Kaye D, Ramialison M, Harvey RP, Rosenthal NA, Costa MW. Furtado MB, et al. Among authors: costa mw. JCI Insight. 2017 Mar 23;2(6):e88271. doi: 10.1172/jci.insight.88271. JCI Insight. 2017. PMID: 28352650 Free PMC article.
Homeodomain factor Nkx2-5 in heart development and disease.
Harvey RP, Lai D, Elliott D, Biben C, Solloway M, Prall O, Stennard F, Schindeler A, Groves N, Lavulo L, Hyun C, Yeoh T, Costa M, Furtado M, Kirk E. Harvey RP, et al. Cold Spring Harb Symp Quant Biol. 2002;67:107-14. doi: 10.1101/sqb.2002.67.107. Cold Spring Harb Symp Quant Biol. 2002. PMID: 12858530 Review. No abstract available.
Complex SUMO-1 regulation of cardiac transcription factor Nkx2-5.
Costa MW, Lee S, Furtado MB, Xin L, Sparrow DB, Martinez CG, Dunwoodie SL, Kurtenbach E, Mohun T, Rosenthal N, Harvey RP. Costa MW, et al. PLoS One. 2011;6(9):e24812. doi: 10.1371/journal.pone.0024812. Epub 2011 Sep 12. PLoS One. 2011. PMID: 21931855 Free PMC article.
42 results