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2,163 results
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Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.
Prakash SK, LeMaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW. Prakash SK, et al. Am J Hum Genet. 2010 Dec 10;87(6):743-56. doi: 10.1016/j.ajhg.2010.09.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092924 Free PMC article.
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Liu P, et al. Among authors: prakash sk. Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25. Hum Mol Genet. 2011. PMID: 21355048 Free PMC article.
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; GenTAC Investigators. Kuang SQ, et al. Among authors: prakash sk. PLoS Genet. 2011 Jun;7(6):e1002118. doi: 10.1371/journal.pgen.1002118. Epub 2011 Jun 16. PLoS Genet. 2011. PMID: 21698135 Free PMC article.
Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells.
Kuang SQ, Kwartler CS, Byanova KL, Pham J, Gong L, Prakash SK, Huang J, Kamm KE, Stull JT, Sweeney HL, Milewicz DM. Kuang SQ, et al. Among authors: prakash sk. Circ Res. 2012 May 25;110(11):1411-22. doi: 10.1161/CIRCRESAHA.111.261743. Epub 2012 Apr 17. Circ Res. 2012. PMID: 22511748 Free PMC article.
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA 3rd, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Dharmadhikari AV, et al. Among authors: prakash sk. Hum Mol Genet. 2012 Aug 1;21(15):3345-55. doi: 10.1093/hmg/dds166. Epub 2012 Apr 27. Hum Mol Genet. 2012. PMID: 22543972 Free PMC article.
2,163 results