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Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Škorić-Milosavljević D, Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ, Agopian AJ, Blue GM, Barge-Schaapveld DQCM, Gewillig M, Preuss C, Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K, Bokenkamp R, Müller-Nurasyid M; KORA-Study Group; Vliegen HW, Konings TC, van Melle JP, van Dijk APJ, van Kimmenade RRJ, Roos-Hesselink JW, Sieswerda GT, Meijboom F, Abdul-Khaliq H, Berger F, Dittrich S, Hitz MP, Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter HM, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov-Blagojević M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Bouma BJ, Chaix MA, Kline J, Bassett AS, Andelfinger G, van der Palen RLF, Bouvagnet P, Clur SB, Breckpot J, Kerstjens-Frederikse WS, Winlaw DS, Bauer UMM, Mital S, Goldmuntz E, Keavney B, Bonnet D, Mulder BJ, Tanck MWT, Bakkers J, Christoffels VM, Boogerd CJ, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: bakkers j. Circ Res. 2022 Jan 21;130(2):166-180. doi: 10.1161/CIRCRESAHA.120.317107. Epub 2021 Dec 10. Circ Res. 2022. PMID: 34886679 Free PMC article.
Genes in congenital heart disease: atrioventricular valve formation.
Joziasse IC, van de Smagt JJ, Smith K, Bakkers J, Sieswerda GJ, Mulder BJ, Doevendans PA. Joziasse IC, et al. Among authors: bakkers j. Basic Res Cardiol. 2008 May;103(3):216-27. doi: 10.1007/s00395-008-0713-4. Epub 2008 Apr 7. Basic Res Cardiol. 2008. PMID: 18392768 Review.
Dominant-negative ALK2 allele associates with congenital heart defects.
Smith KA, Joziasse IC, Chocron S, van Dinther M, Guryev V, Verhoeven MC, Rehmann H, van der Smagt JJ, Doevendans PA, Cuppen E, Mulder BJ, Ten Dijke P, Bakkers J. Smith KA, et al. Among authors: bakkers j. Circulation. 2009 Jun 23;119(24):3062-9. doi: 10.1161/CIRCULATIONAHA.108.843714. Epub 2009 Jun 8. Circulation. 2009. PMID: 19506109
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
Joziasse IC, Smith KA, Chocron S, van Dinther M, Guryev V, van de Smagt JJ, Cuppen E, Ten Dijke P, Mulder BJ, Maslen CL, Reshey B, Doevendans PA, Bakkers J. Joziasse IC, et al. Among authors: bakkers j. Eur J Hum Genet. 2011 Apr;19(4):389-93. doi: 10.1038/ejhg.2010.224. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248739 Free PMC article.
Sox4 mediates Tbx3 transcriptional regulation of the gap junction protein Cx43.
Boogerd CJ, Wong LY, van den Boogaard M, Bakker ML, Tessadori F, Bakkers J, 't Hoen PA, Moorman AF, Christoffels VM, Barnett P. Boogerd CJ, et al. Among authors: bakkers j. Cell Mol Life Sci. 2011 Dec;68(23):3949-61. doi: 10.1007/s00018-011-0693-7. Epub 2011 May 3. Cell Mol Life Sci. 2011. PMID: 21538160 Free PMC article.
Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.
van den Boogaard M, Wong LY, Tessadori F, Bakker ML, Dreizehnter LK, Wakker V, Bezzina CR, 't Hoen PA, Bakkers J, Barnett P, Christoffels VM. van den Boogaard M, et al. Among authors: bakkers j. J Clin Invest. 2012 Jul;122(7):2519-30. doi: 10.1172/JCI62613. Epub 2012 Jun 18. J Clin Invest. 2012. PMID: 22706305 Free PMC article.
149 results