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Page 1
Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute; Crosby J, Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y, Tang ZZ, Zhang H, Hindy G, Masca N, Stirrups K, Kanoni S, Do R, Jun G, Hu Y, Kang HM, Xue C, Goel A, Farrall M, Duga S, Merlini PA, Asselta R, Girelli D, Olivieri O, Martinelli N, Yin W, Reilly D, Speliotes E, Fox CS, Hveem K, Holmen OL, Nikpay M, Farlow DN, Assimes TL, Franceschini N, Robinson J, North KE, Martin LW, DePristo M, Gupta N, Escher SA, Jansson JH, Van Zuydam N, Palmer CN, Wareham N, Koch W, Meitinger T, Peters A, Lieb W, Erbel R, Konig IR, Kruppa J, Degenhardt F, Gottesman O, Bottinger EP, O'Donnell CJ, Psaty BM, Ballantyne CM, Abecasis G, Ordovas JM, Melander O, Watkins H, Orho-Melander M, Ardissino D, Loos RJ, McPherson R, Willer CJ, Erdmann J, Hall AS, Samani NJ, Deloukas P, Schunkert H, Wilson JG, Kooperberg C, Rich SS, Tracy RP, Lin DY, Altshuler D, Gabriel S, Nickerson DA, Jarvik GP, Cupples LA, Reiner AP, Boerwinkle E, Kathiresan S. TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, et al. Among authors: stitziel no. N Engl J Med. 2014 Jul 3;371(1):22-31. doi: 10.1056/NEJMoa1307095. Epub 2014 Jun 18. N Engl J Med. 2014. PMID: 24941081 Free PMC article.
Author Correction: SVEP1 is an endogenous ligand for the orphan receptor PEAR1.
Elenbaas JS, Pudupakkam U, Ashworth KJ, Kang CJ, Patel V, Santana K, Jung IH, Lee PC, Burks KH, Amrute JM, Mecham RP, Halabi CM, Alisio A, Di Paola J, Stitziel NO. Elenbaas JS, et al. Among authors: stitziel no. Nat Commun. 2023 Mar 17;14(1):1511. doi: 10.1038/s41467-023-37005-x. Nat Commun. 2023. PMID: 36932061 Free PMC article. No abstract available.
Targeting Immune-Fibroblast Crosstalk in Myocardial Infarction and Cardiac Fibrosis.
Amrute JM, Luo X, Penna V, Bredemeyer A, Yamawaki T, Yang S, Kadyrov F, Heo GS, Shi SY, Lee P, Koenig AL, Kuppe C, Jones C, Kopecky B, Hayat S, Ma P, Terada Y, Fu A, Furtado M, Kreisel D, Stitziel NO, Li CM, Kramann R, Liu Y, Ason B, Lavine KJ. Amrute JM, et al. Among authors: stitziel no. Res Sq [Preprint]. 2023 Jan 26:rs.3.rs-2402606. doi: 10.21203/rs.3.rs-2402606/v1. Res Sq. 2023. PMID: 36747878 Free PMC article. Preprint.
SVEP1 is an endogenous ligand for the orphan receptor PEAR1.
Elenbaas JS, Pudupakkam U, Ashworth KJ, Kang CJ, Patel V, Santana K, Jung IH, Lee PC, Burks KH, Amrute JM, Mecham RP, Halabi CM, Alisio A, Di Paola J, Stitziel NO. Elenbaas JS, et al. Among authors: stitziel no. Nat Commun. 2023 Feb 15;14(1):850. doi: 10.1038/s41467-023-36486-0. Nat Commun. 2023. PMID: 36792666 Free PMC article.
ANGPTL3 Deficiency and Risk of Hepatic Steatosis.
D'Erasmo L, Di Martino M, Neufeld T, Fraum TJ, Kang CJ, Burks KH, Di Costanzo A, Minicocci I, Bini S, Maranghi M, Pigna G, Labbadia G, Zheng J, Fierro D, Montali A, Ceci F, Catalano C, Davidson NO, Lucisano G, Nicolucci A, Arca M, Stitziel NO. D'Erasmo L, et al. Among authors: stitziel no. Circulation. 2023 Nov 7;148(19):1479-1489. doi: 10.1161/CIRCULATIONAHA.123.065866. Epub 2023 Sep 15. Circulation. 2023. PMID: 37712257
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.
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.
101 results