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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: sunde m. 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.
Identification of the key LMO2-binding determinants on Ldb1.
Ryan DP, Sunde M, Kwan AH, Marianayagam NJ, Nancarrow AL, Vanden Hoven RN, Thompson LS, Baca M, Mackay JP, Visvader JE, Matthews JM. Ryan DP, et al. Among authors: sunde m. J Mol Biol. 2006 May 26;359(1):66-75. doi: 10.1016/j.jmb.2006.02.074. Epub 2006 Mar 20. J Mol Biol. 2006. PMID: 16616188
Structural analysis of hydrophobins.
Sunde M, Kwan AH, Templeton MD, Beever RE, Mackay JP. Sunde M, et al. Micron. 2008 Oct;39(7):773-84. doi: 10.1016/j.micron.2007.08.003. Epub 2007 Aug 10. Micron. 2008. PMID: 17875392 Review.
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.
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. Posch MG, et al. Among authors: sunde m. J Med Genet. 2010 Apr;47(4):230-5. doi: 10.1136/jmg.2009.069997. Epub 2009 Sep 16. J Med Genet. 2010. PMID: 19762328 Free PMC article.
301 results