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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: winlaw ds. 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.
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: winlaw ds. 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
Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4.
Moradi Marjaneh M, Kirk EP, Posch MG, Ozcelik C, Berger F, Hetzer R, Otway R, Butler TL, Blue GM, Griffiths LR, Fatkin D, Martinson JJ, Winlaw DS, Feneley MP, Harvey RP. Moradi Marjaneh M, et al. Among authors: winlaw ds. PLoS One. 2011;6(6):e20711. doi: 10.1371/journal.pone.0020711. Epub 2011 Jun 6. PLoS One. 2011. PMID: 21673957 Free PMC article.
Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species.
Qian L, Wythe JD, Liu J, Cartry J, Vogler G, Mohapatra B, Otway RT, Huang Y, King IN, Maillet M, Zheng Y, Crawley T, Taghli-Lamallem O, Semsarian C, Dunwoodie S, Winlaw D, Harvey RP, Fatkin D, Towbin JA, Molkentin JD, Srivastava D, Ocorr K, Bruneau BG, Bodmer R. Qian L, et al. J Cell Biol. 2011 Jun 27;193(7):1181-96. doi: 10.1083/jcb.201006114. Epub 2011 Jun 20. J Cell Biol. 2011. PMID: 21690310 Free PMC article.
238 results