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Page 1
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K. Schoenmakers E, et al. Among authors: ellinor pt. Nat Commun. 2023 Dec 2;14(1):7994. doi: 10.1038/s41467-023-43851-6. Nat Commun. 2023. PMID: 38042913 Free PMC article.
An HDAC9-MALAT1-BRG1 complex mediates smooth muscle dysfunction in thoracic aortic aneurysm.
Lino Cardenas CL, Kessinger CW, Cheng Y, MacDonald C, MacGillivray T, Ghoshhajra B, Huleihel L, Nuri S, Yeri AS, Jaffer FA, Kaminski N, Ellinor P, Weintraub NL, Malhotra R, Isselbacher EM, Lindsay ME. Lino Cardenas CL, et al. Nat Commun. 2018 Mar 8;9(1):1009. doi: 10.1038/s41467-018-03394-7. Nat Commun. 2018. PMID: 29520069 Free PMC article.
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wünnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Björk HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME; Baylor-Hopkins Center for Mendelian Genomics; MIBAVA Leducq Consortium; Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC. Gould RA, et al. Among authors: ellinor pt. Nat Genet. 2019 Jan;51(1):42-50. doi: 10.1038/s41588-018-0265-y. Epub 2018 Nov 19. Nat Genet. 2019. PMID: 30455415 Free PMC article.
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.
Pirruccello JP, Bick A, Wang M, Chaffin M, Friedman S, Yao J, Guo X, Venkatesh BA, Taylor KD, Post WS, Rich S, Lima JAC, Rotter JI, Philippakis A, Lubitz SA, Ellinor PT, Khera AV, Kathiresan S, Aragam KG. Pirruccello JP, et al. Among authors: ellinor pt. Nat Commun. 2020 May 7;11(1):2254. doi: 10.1038/s41467-020-15823-7. Nat Commun. 2020. PMID: 32382064 Free PMC article.
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.
Natarajan P, Pampana A, Graham SE, Ruotsalainen SE, Perry JA, de Vries PS, Broome JG, Pirruccello JP, Honigberg MC, Aragam K, Wolford B, Brody JA, Antonacci-Fulton L, Arden M, Aslibekyan S, Assimes TL, Ballantyne CM, Bielak LF, Bis JC, Cade BE, Do R, Doddapaneni H, Emery LS, Hung YJ, Irvin MR, Khan AT, Lange L, Lee J, Lemaitre RN, Martin LW, Metcalf G, Montasser ME, Moon JY, Muzny D, O'Connell JR, Palmer ND, Peralta JM, Peyser PA, Stilp AM, Tsai M, Wang FF, Weeks DE, Yanek LR, Wilson JG, Abecasis G, Arnett DK, Becker LC, Blangero J, Boerwinkle E, Bowden DW, Chang YC, Chen YI, Choi WJ, Correa A, Curran JE, Daly MJ, Dutcher SK, Ellinor PT, Fornage M, Freedman BI, Gabriel S, Germer S, Gibbs RA, He J, Hveem K, Jarvik GP, Kaplan RC, Kardia SLR, Kenny E, Kim RW, Kooperberg C, Laurie CC, Lee S, Lloyd-Jones DM, Loos RJF, Lubitz SA, Mathias RA, Martinez KAV, McGarvey ST, Mitchell BD, Nickerson DA, North KE, Palotie A, Park CJ, Psaty BM, Rao DC, Redline S, Reiner AP, Seo D, Seo JS, Smith AV, Tracy RP, Vasan RS, Kathiresan S, Cupples LA, Rotter JI, Morrison AC, Rich SS, Ripatti S, Willer C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; FinnGen; Peloso GM. Natarajan P, et al. Among authors: ellinor pt. Nat Commun. 2021 Apr 12;12(1):2182. doi: 10.1038/s41467-021-22339-1. Nat Commun. 2021. PMID: 33846329 Free PMC article.
Deep Learning to Predict Cardiac Magnetic Resonance-Derived Left Ventricular Mass and Hypertrophy From 12-Lead ECGs.
Khurshid S, Friedman S, Pirruccello JP, Di Achille P, Diamant N, Anderson CD, Ellinor PT, Batra P, Ho JE, Philippakis AA, Lubitz SA. Khurshid S, et al. Among authors: ellinor pt. Circ Cardiovasc Imaging. 2021 Jun;14(6):e012281. doi: 10.1161/CIRCIMAGING.120.012281. Epub 2021 Jun 15. Circ Cardiovasc Imaging. 2021. PMID: 34126762 Free PMC article.
Deep learning enables genetic analysis of the human thoracic aorta.
Pirruccello JP, Chaffin MD, Chou EL, Fleming SJ, Lin H, Nekoui M, Khurshid S, Friedman SF, Bick AG, Arduini A, Weng LC, Choi SH, Akkad AD, Batra P, Tucker NR, Hall AW, Roselli C, Benjamin EJ, Vellarikkal SK, Gupta RM, Stegmann CM, Juric D, Stone JR, Vasan RS, Ho JE, Hoffmann U, Lubitz SA, Philippakis AA, Lindsay ME, Ellinor PT. Pirruccello JP, et al. Among authors: ellinor pt. Nat Genet. 2022 Jan;54(1):40-51. doi: 10.1038/s41588-021-00962-4. Epub 2021 Nov 26. Nat Genet. 2022. PMID: 34837083 Free PMC article.
502 results