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129 results

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Page 1
Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings.
Chim SM, Howell K, Dronzek J, Wu W, Van Hout C, Ferreira MAR, Ye B, Li A, Brydges S, Arunachalam V, Marcketta A, Locke AE, Bovijn J, Verweij N, De T, Lotta L, Mitnaul L, LeBlanc M, Center RG, Carey DJ, Melander O, Shuldiner A, Karalis K, Economides AN, Nistala H; DiscovEHR collaboration; Regeneron Genetics Center. Chim SM, et al. Among authors: ferreira mar. Elife. 2024 Dec 13;12:RP90419. doi: 10.7554/eLife.90419. Elife. 2024. PMID: 39671241 Free PMC article.
Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk.
Vad OB, Monfort LM, Paludan-Müller C, Kahnert K, Diederichsen SZ, Andreasen L, Lotta LA, Nielsen JB, Lundby A, Svendsen JH, Olesen MS; Geisinger MyCode Community Health Initiative and the Regeneron Genetics Center (RGC) Research Team. Vad OB, et al. JAMA Cardiol. 2024 Aug 1;9(8):732-740. doi: 10.1001/jamacardio.2024.1528. JAMA Cardiol. 2024. PMID: 38922602 Free PMC article.
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis.
Zhou S, Sosina OA, Bovijn J, Laurent L, Sharma V, Akbari P, Forgetta V, Jiang L, Kosmicki JA, Banerjee N, Morris JA, Oerton E, Jones M, LeBlanc MG; Regeneron Genetics Center; Idone V, Overton JD, Reid JG, Cantor M, Abecasis GR, Goltzman D, Greenwood CMT, Langenberg C, Baras A, Economides AN, Ferreira MAR, Hatsell S, Ohlsson C, Richards JB, Lotta LA. Zhou S, et al. Among authors: ferreira mar. Nat Genet. 2023 Aug;55(8):1277-1287. doi: 10.1038/s41588-023-01444-5. Epub 2023 Aug 9. Nat Genet. 2023. PMID: 37558884
Pharmacologic and Genetic Downregulation of Proprotein Convertase Subtilisin/Kexin Type 9 and Survival From Sepsis.
Lawler PR, Manvelian G, Coppi A, Damask A, Cantor MN, Ferreira MAR, Paulding C, Banerjee N, Li D, Jorgensen S, Attre R, Carey DJ, Krebs K, Milani L, Hveem K, Damås JK, Solligård E, Stender S, Tybjærg-Hansen A, Nordestgaard BG, Hernandez-Beeftink T, Rogne T, Flores C, Villar J, Walley KR, Liu VX, Fohner AE, Lotta LA, Kyratsous CA, Sleeman MW, Scemama M, DelGizzi R, Pordy R, Horowitz JE, Baras A, Martin GS, Steg PG, Schwartz GG, Szarek M, Goodman SG. Lawler PR, et al. Among authors: ferreira mar. Crit Care Explor. 2023 Nov 8;5(11):e0997. doi: 10.1097/CCE.0000000000000997. eCollection 2023 Nov. Crit Care Explor. 2023. PMID: 37954898 Free PMC article.
Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581].
Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor SS, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mells GF; Canadian PBC Consortium; Chinese PBC Consortium; Italian PBC Study Group; Japan-PBC-GWAS Consortium; US PBC Consortium; UK-PBC Consortium. Cordell HJ, et al. Among authors: ferreira mar. J Hepatol. 2023 Apr;78(4):883. doi: 10.1016/j.jhep.2022.12.001. Epub 2023 Jan 11. J Hepatol. 2023. PMID: 36639314 No abstract available.
Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E. Kessler MD, et al. Among authors: ferreira mar. Nature. 2025 Jan 8. doi: 10.1038/s41586-024-08572-w. Online ahead of print. Nature. 2025. PMID: 39779868 No abstract available.
Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2025 Jan 8. doi: 10.1038/s41586-024-08571-x. Online ahead of print. Nature. 2025. PMID: 39779867 No abstract available.
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Rodriguez-Flores JL, Khalid S, Parikshak N, Rasheed A, Ye B, Kapoor M, Backman J, Sepehrband F, Gioia SAD, Gelfman S, De T, Banerjee N, Sharma D, Martinez H, Castaneda S, D'Ambrosio D, Zhang XA, Xun P, Tsai E, Tsai IC; Regeneron Genetics Center; Khan MZ, Jahanzaib M, Mian MR, Liaqat MB, Mahmood K, Salam TU, Hussain M, Iqbal J, Aslam F, Cantor MN, Tzoneva G, Overton J, Marchini J, Reid JG, Baras A, Verweij N, Lotta LA, Coppola G, Karalis K, Economides A, Fazio S, Liedtke W, Danesh J, Kamal A, Frossard P, Coleman T, Shuldiner AR, Saleheen D. Rodriguez-Flores JL, et al. Nat Commun. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3. Nat Commun. 2024. PMID: 39271666 Free PMC article.
Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone.
Dunn ME, Kithcart A, Kim JH, Ho AJ, Franklin MC, Romero Hernandez A, de Hoon J, Botermans W, Meyer J, Jin X, Zhang D, Torello J, Jasewicz D, Kamat V, Garnova E, Liu N, Rosconi M, Pan H, Karnik S, Burczynski ME, Zheng W, Rafique A, Nielsen JB, De T, Verweij N, Pandit A, Locke A, Chalasani N, Melander O, Schwantes-An TH; Penn Medicine Biobank; Baras A, Lotta LA, Musser BJ, Mastaitis J, Devalaraja-Narashimha KB, Rankin AJ, Huang T, Herman G, Olson W, Murphy AJ, Yancopoulos GD, Olenchock BA, Morton L. Dunn ME, et al. Nature. 2024 Sep;633(8030):654-661. doi: 10.1038/s41586-024-07903-1. Epub 2024 Sep 11. Nature. 2024. PMID: 39261724 Free PMC article. Clinical Trial.
129 results