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Page 1
Deficiency of mitophagy mediator Parkin in aortic smooth muscle cells exacerbates abdominal aortic aneurysm.
Wang H, Kazaleh M, Gioscia-Ryan R, Millar J, Temprano-Sagrera G, Wood S, Van Den Bergh F, Blin MG, Wragg KM, Luna A, Hawkins RB, Soleimanpour SA, Sabater-Lleal M, Shu C, Beard DA, Ailawadi G, Deng JC, Goldstein DR, Salmon M. Wang H, et al. Among authors: sabater lleal m. bioRxiv [Preprint]. 2024 Nov 1:2024.10.30.621201. doi: 10.1101/2024.10.30.621201. bioRxiv. 2024. PMID: 39554010 Free PMC article. Preprint.
Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity.
Gendre B, Martinez-Perez A, Kleber ME, van Hylckama Vlieg A, Boland A, Olaso R, Germain M, Munsch G, Moissl AP, Suchon P, Souto JC, Soria JM, Deleuze JF, März W, Rosendaal FR, Sabater-Lleal M, Morange PE, Trégouët DA; CHARGE Hemostasis Working Group. Gendre B, et al. Among authors: sabater lleal m. J Am Heart Assoc. 2024 Nov 5;13(21):e034943. doi: 10.1161/JAHA.124.034943. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424413 Free article.
Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.
Huffman JE, Nicholas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F, Almasy L, Bartz TM, Bielak LF, Bowler RP, Carrasquilla GD, Chasman DI, Chen MH, Emmert DB, Ghanbari M, Haessler J, Hottenga JJ, Kleber ME, Le NQ, Lee J, Lewis JP, Li-Gao R, Luan J, Malmberg A, Mangino M, Marioni RE, Martinez-Perez A, Pankratz N, Polasek O, Richmond A, Rodriguez BAT, Rotter JI, Steri M, Suchon P, Trompet S, Weiss S, Zare M, Auer P, Cho MH, Christofidou P, Davies G, de Geus E, Deleuze JF, Delgado GE, Ekunwe L, Faraday N, Gögele M, Greinacher A, Gao H, Howard T, Joshi PK, Kilpeläinen TO, Lahti J, Linneberg A, Naitza S, Noordam R, Paüls-Vergés F, Rich SS, Rosendaal FR, Rudan I, Ryan KA, Souto JC, van Rooij FJA, Wang H, Zhao W, Becker LC, Beswick A, Brown MR, Cade BE, Campbell H, Cho K, Crapo JD, Curran JE, de Maat MPM, Doyle M, Elliott P, Floyd JS, Fuchsberger C, Grarup N, Guo X, Harris SE, Hou L, Kolcic I, Kooperberg C, Menni C, Nauck M, O'Connell JR, Orrù V, Psaty BM, Räikkönen K, Smith JA, Soria JM, Stott DJ, van Hylckama Vlieg A, Watkins H, Willemsen G, Wilson PWF, Ben-Shlomo Y, Blangero J, Boomsma D, Cox SR, Dehghan A, Eriksson JG, Fiorillo E, Fornage M, Hansen T, Hayward C, Ikr… See abstract for full author list ➔ Huffman JE, et al. Among authors: sabater lleal m. Blood. 2024 Nov 21;144(21):2248-2265. doi: 10.1182/blood.2023022596. Blood. 2024. PMID: 39226462
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.
de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le NQ, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, Ozel AB, Thibord F, Jain D, Lewis JP, Rodriguez BAT, Pankratz N, Taylor KD, Polasek O, Chen MH, Yanek LR, Carrasquilla GD, Marioni RE, Kleber ME, Trégouët DA, Yao J, Li-Gao R, Joshi PK, Trompet S, Martinez-Perez A, Ghanbari M, Howard TE, Reiner AP, Arvanitis M, Ryan KA, Bartz TM, Rudan I, Faraday N, Linneberg A, Ekunwe L, Davies G, Delgado GE, Suchon P, Guo X, Rosendaal FR, Klaric L, Noordam R, van Rooij F, Curran JE, Wheeler MM, Osburn WO, O'Connell JR, Boerwinkle E, Beswick A, Psaty BM, Kolcic I, Souto JC, Becker LC, Hansen T, Doyle MF, Harris SE, Moissl AP, Deleuze JF, Rich SS, van Hylckama Vlieg A, Campbell H, Stott DJ, Soria JM, de Maat MPM, Almasy L, Brody LC, Auer PL, Mitchell BD, Ben-Shlomo Y, Fornage M, Hayward C, Mathias RA, Kilpeläinen TO, Lange LA, Cox SR, März W, Morange PE, Rotter JI, Mook-Kanamori DO, Wilson JF, van der Harst P, Jukema JW, Ikram MA, Blangero J, Kooperberg C, Desch KC, Johnson AD, Sabater-Lleal M, Lowenstein CJ, Smith NL, Morrison AC. de Vries PS, et al. Among authors: sabater lleal m. Blood. 2024 May 2;143(18):1845-1855. doi: 10.1182/blood.2023021452. Blood. 2024. PMID: 38320121
CD36 regulates factor VIII secretion from liver endothelial cells.
Reventun P, Toledano-Sanz P, Alcharani N, Viskadourou M, Morrison AC, Sabater-Lleal M, Wolberg AS, de Vries PS, Smith NL, Osburn WO, Arvanitis M, Lowenstein CJ. Reventun P, et al. Among authors: sabater lleal m. Blood Adv. 2024 Jan 9;8(1):143-149. doi: 10.1182/bloodadvances.2023010023. Blood Adv. 2024. PMID: 38157226 Free PMC article. No abstract available.
A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment.
Gallego-Fabrega C, Temprano-Sagrera G, Cárcel-Márquez J, Muiño E, Cullell N, Lledós M, Llucià-Carol L, Martin-Campos JM, Sobrino T, Castillo J, Millán M, Muñoz-Narbona L, López-Cancio E, Ribó M, Alvarez-Sabin J, Jiménez-Conde J, Roquer J, Tur S, Obach V, Arenillas JF, Segura T, Serrano-Heras G, Marti-Fabregas J, Freijo-Guerrero M, Moniche F, Castellanos MDM, Morrison AC, Smith NL, de Vries PS, Fernández-Cadenas I, Sabater-Lleal M; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium; Spanish Stroke Genetic Consortium. Gallego-Fabrega C, et al. Among authors: sabater lleal m. J Thromb Haemost. 2024 Apr;22(4):936-950. doi: 10.1016/j.jtha.2023.11.027. Epub 2023 Dec 15. J Thromb Haemost. 2024. PMID: 38103737 Free PMC article.
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.
Roychowdhury T, Klarin D, Levin MG, Spin JM, Rhee YH, Deng A, Headley CA, Tsao NL, Gellatly C, Zuber V, Shen F, Hornsby WE, Laursen IH, Verma SS, Locke AE, Einarsson G, Thorleifsson G, Graham SE, Dikilitas O, Pattee JW, Judy RL, Pauls-Verges F, Nielsen JB, Wolford BN, Brumpton BM, Dilmé J, Peypoch O, Juscafresa LC, Edwards TL, Li D, Banasik K, Brunak S, Jacobsen RL, Garcia-Barrio MT, Zhang J, Rasmussen LM, Lee R, Handa A, Wanhainen A, Mani K, Lindholt JS, Obel LM, Strauss E, Oszkinis G, Nelson CP, Saxby KL, van Herwaarden JA, van der Laan SW, van Setten J, Camacho M, Davis FM, Wasikowski R, Tsoi LC, Gudjonsson JE, Eliason JL, Coleman DM, Henke PK, Ganesh SK, Chen YE, Guan W, Pankow JS, Pankratz N, Pedersen OB, Erikstrup C, Tang W, Hveem K, Gudbjartsson D, Gretarsdottir S, Thorsteinsdottir U, Holm H, Stefansson K, Ferreira MA, Baras A, Kullo IJ, Ritchie MD, Christensen AH, Iversen KK, Eldrup N, Sillesen H, Ostrowski SR, Bundgaard H, Ullum H, Burgess S, Gill D, Gallagher K, Sabater-Lleal M; DiscovEHR; Regeneron Genetics Center; UK Aneurysm Growth Study; DBDS Genomic Consortium; VA Million Veteran Program; Surakka I, Jones GT, Bown MJ, Tsao PS, Willer CJ, Damrauer SM. Roychowdhury T, et al. Among authors: sabater lleal m. Nat Genet. 2023 Nov;55(11):1831-1842. doi: 10.1038/s41588-023-01510-y. Epub 2023 Oct 16. Nat Genet. 2023. PMID: 37845353 Free PMC article.
Polygenic risk of major depressive disorder as a risk factor for venous thromboembolism.
Ward J, Le NQ, Suryakant S, Brody JA, Amouyel P, Boland A, Bown R, Cullen B, Debette S, Deleuze JF, Emmerich J, Graham N, Germain M, Anderson JJ, Pell JP, Lyall DM, Lyall LM, Smith DJ, Wiggins KL, Soria JM, Souto JC, Morange PE, Smith NL, Trégouët DA, Sabater-Lleal M, Strawbridge RJ. Ward J, et al. Among authors: sabater lleal m. Blood Adv. 2023 Sep 26;7(18):5341-5350. doi: 10.1182/bloodadvances.2023010562. Blood Adv. 2023. PMID: 37399490 Free PMC article.
Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.
Huffman JE, Nicolas J, Hahn J, Heath AS, Raffield LM, Yanek LR, Brody JA, Thibord F, Almasy L, Bartz TM, Bielak LF, Bowler RP, Carrasquilla GD, Chasman DI, Chen MH, Emmert DB, Ghanbari M, Haessle J, Hottenga JJ, Kleber ME, Le NQ, Lee J, Lewis JP, Li-Gao R, Luan J, Malmberg A, Mangino M, Marioni RE, Martinez-Perez A, Pankratz N, Polasek O, Richmond A, Rodriguez BA, Rotter JI, Steri M, Suchon P, Trompet S, Weiss S, Zare M, Auer P, Cho MH, Christofidou P, Davies G, de Geus E, Deleuze JF, Delgado GE, Ekunwe L, Faraday N, Gögele M, Greinacher A, He G, Howard T, Joshi PK, Kilpeläinen TO, Lahti J, Linneberg A, Naitza S, Noordam R, Paüls-Vergés F, Rich SS, Rosendaal FR, Rudan I, Ryan KA, Souto JC, van Rooij FJ, Wang H, Zhao W, Becker LC, Beswick A, Brown MR, Cade BE, Campbell H, Cho K, Crapo JD, Curran JE, de Maat MP, Doyle M, Elliott P, Floyd JS, Fuchsberger C, Grarup N, Guo X, Harris SE, Hou L, Kolcic I, Kooperberg C, Menni C, Nauck M, O'Connell JR, Orrù V, Psaty BM, Räikkönen K, Smith JA, Soria JM, Stott DJ, van Hylckama Vlieg A, Watkins H, Willemsen G, Wilson P, Ben-Shlomo Y, Blangero J, Boomsma D, Cox SR, Dehghan A, Eriksson JG, Fiorillo E, Fornage M, Hansen T, Hayward C, Ikram MA, J… See abstract for full author list ➔ Huffman JE, et al. Among authors: sabater lleal m. medRxiv [Preprint]. 2023 Jun 12:2023.06.07.23291095. doi: 10.1101/2023.06.07.23291095. medRxiv. 2023. Update in: Blood. 2024 Nov 21;144(21):2248-2265. doi: 10.1182/blood.2023022596. PMID: 37398003 Free PMC article. Updated. Preprint.
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