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Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
Huang J, Huffman JE, Yamakuchi M, Trompet S, Asselbergs FW, Sabater-Lleal M, Trégouët DA, Chen WM, Smith NL, Kleber ME, Shin SY, Becker DM, Tang W, Dehghan A, Johnson AD, Truong V, Folkersen L, Yang Q, Oudot-Mellkah T, Buckley BM, Moore JH, Williams FM, Campbell H, Silbernagel G, Vitart V, Rudan I, Tofler GH, Navis GJ, Destefano A, Wright AF, Chen MH, de Craen AJ, Worrall BB, Rudnicka AR, Rumley A, Bookman EB, Psaty BM, Chen F, Keene KL, Franco OH, Böhm BO, Uitterlinden AG, Carter AM, Jukema JW, Sattar N, Bis JC, Ikram MA; Cohorts for Heart and Aging Research in Genome Epidemiology (CHARGE) Consortium Neurology Working Group; Sale MM, McKnight B, Fornage M, Ford I, Taylor K, Slagboom PE, McArdle WL, Hsu FC, Franco-Cereceda A, Goodall AH, Yanek LR, Furie KL, Cushman M, Hofman A, Witteman JC, Folsom AR, Basu S, Matijevic N, van Gilst WH, Wilson JF, Westendorp RG, Kathiresan S, Reilly MP; CARDIoGRAM Consortium; Tracy RP, Polasek O, Winkelmann BR, Grant PJ, Hillege HL, Cambien F, Stott DJ, Lowe GD, Spector TD, Meigs JB, Marz W, Eriksson P, Becker LC, Morange PE, Soranzo N, Williams SM, Hayward C, van der Harst P, Hamsten A, Lowenstein CJ, Strachan DP, O'Donnell CJ; CHARGE Conso… See abstract for full author list ➔ Huang J, et al. Arterioscler Thromb Vasc Biol. 2014 May;34(5):1093-101. doi: 10.1161/ATVBAHA.113.302088. Epub 2014 Feb 27. Arterioscler Thromb Vasc Biol. 2014. PMID: 24578379 Free PMC article.
Genetic predictors of fibrin D-dimer levels in healthy adults.
Smith NL, Huffman JE, Strachan DP, Huang J, Dehghan A, Trompet S, Lopez LM, Shin SY, Baumert J, Vitart V, Bis JC, Wild SH, Rumley A, Yang Q, Uitterlinden AG, Stott DJ, Davies G, Carter AM, Thorand B, Polašek O, McKnight B, Campbell H, Rudnicka AR, Chen MH, Buckley BM, Harris SE, Peters A, Pulanic D, Lumley T, de Craen AJ, Liewald DC, Gieger C, Campbell S, Ford I, Gow AJ, Luciano M, Porteous DJ, Guo X, Sattar N, Tenesa A, Cushman M, Slagboom PE, Visscher PM, Spector TD, Illig T, Rudan I, Bovill EG, Wright AF, McArdle WL, Tofler G, Hofman A, Westendorp RG, Starr JM, Grant PJ, Karakas M, Hastie ND, Psaty BM, Wilson JF, Lowe GD, O'Donnell CJ, Witteman JC, Jukema JW, Deary IJ, Soranzo N, Koenig W, Hayward C. Smith NL, et al. Among authors: huang j. Circulation. 2011 May 3;123(17):1864-72. doi: 10.1161/CIRCULATIONAHA.110.009480. Epub 2011 Apr 18. Circulation. 2011. PMID: 21502573 Free PMC article.
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO; Gibson RL, Bamshad MJ. Emond MJ, et al. Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344. Nat Genet. 2012. PMID: 22772370 Free PMC article.
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project; Jondeau G, Milewicz DM. Boileau C, et al. Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. Nat Genet. 2012. PMID: 22772371 Free PMC article.
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
Huang J, Sabater-Lleal M, Asselbergs FW, Tregouet D, Shin SY, Ding J, Baumert J, Oudot-Mellakh T, Folkersen L, Johnson AD, Smith NL, Williams SM, Ikram MA, Kleber ME, Becker DM, Truong V, Mychaleckyj JC, Tang W, Yang Q, Sennblad B, Moore JH, Williams FM, Dehghan A, Silbernagel G, Schrijvers EM, Smith S, Karakas M, Tofler GH, Silveira A, Navis GJ, Lohman K, Chen MH, Peters A, Goel A, Hopewell JC, Chambers JC, Saleheen D, Lundmark P, Psaty BM, Strawbridge RJ, Boehm BO, Carter AM, Meisinger C, Peden JF, Bis JC, McKnight B, Öhrvik J, Taylor K, Franzosi MG, Seedorf U, Collins R, Franco-Cereceda A, Syvänen AC, Goodall AH, Yanek LR, Cushman M, Müller-Nurasyid M, Folsom AR, Basu S, Matijevic N, van Gilst WH, Kooner JS, Hofman A, Danesh J, Clarke R, Meigs JB; DIAGRAM Consortium; Kathiresan S, Reilly MP; CARDIoGRAM Consortium; Klopp N, Harris TB, Winkelmann BR, Grant PJ, Hillege HL, Watkins H; C4D Consortium; Spector TD, Becker LC, Tracy RP, März W, Uitterlinden AG, Eriksson P, Cambien F; CARDIOGENICS Consortium; Morange PE, Koenig W, Soranzo N, van der Harst P, Liu Y, O'Donnell CJ, Hamsten A. Huang J, et al. Blood. 2012 Dec 6;120(24):4873-81. doi: 10.1182/blood-2012-06-436188. Epub 2012 Sep 18. Blood. 2012. PMID: 22990020 Free PMC article.
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Norton N, et al. Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15. Circ Cardiovasc Genet. 2013. PMID: 23418287 Free PMC article.
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS, Green D, Peters U, Cushman M, Reiner AP; NHLBI Exome Sequencing Project. Johnsen JM, et al. Blood. 2013 Jul 25;122(4):590-7. doi: 10.1182/blood-2013-02-485094. Epub 2013 May 20. Blood. 2013. PMID: 23690449 Free PMC article.
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