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26 results

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Page 1
Germline Mutations in CIDEB and Protection against Liver Disease.
Verweij N, Haas ME, Nielsen JB, Sosina OA, Kim M, Akbari P, De T, Hindy G, Bovijn J, Persaud T, Miloscio L, Germino M, Panagis L, Watanabe K, Mbatchou J, Jones M, LeBlanc M, Balasubramanian S, Lammert C, Enhörning S, Melander O, Carey DJ, Still CD, Mirshahi T, Rader DJ, Parasoglou P, Walls JR, Overton JD, Reid JG, Economides A, Cantor MN, Zambrowicz B, Murphy AJ, Abecasis GR, Ferreira MAR, Smagris E, Gusarova V, Sleeman M, Yancopoulos GD, Marchini J, Kang HM, Karalis K, Shuldiner AR, Della Gatta G, Locke AE, Baras A, Lotta LA. Verweij N, et al. Among authors: della gatta g. N Engl J Med. 2022 Jul 28;387(4):332-344. doi: 10.1056/NEJMoa2117872. N Engl J Med. 2022. PMID: 35939579
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Akbari P, Gilani A, Sosina O, Kosmicki JA, Khrimian L, Fang YY, Persaud T, Garcia V, Sun D, Li A, Mbatchou J, Locke AE, Benner C, Verweij N, Lin N, Hossain S, Agostinucci K, Pascale JV, Dirice E, Dunn M; Regeneron Genetics Center; DiscovEHR Collaboration; Kraus WE, Shah SH, Chen YI, Rotter JI, Rader DJ, Melander O, Still CD, Mirshahi T, Carey DJ, Berumen-Campos J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Balasubramanian S, Hawes A, Jones M, Zambrowicz B, Murphy AJ, Paulding C, Coppola G, Overton JD, Reid JG, Shuldiner AR, Cantor M, Kang HM, Abecasis GR, Karalis K, Economides AN, Marchini J, Yancopoulos GD, Sleeman MW, Altarejos J, Della Gatta G, Tapia-Conyer R, Schwartzman ML, Baras A, Ferreira MAR, Lotta LA. Akbari P, et al. Among authors: della gatta g. Science. 2021 Jul 2;373(6550):eabf8683. doi: 10.1126/science.abf8683. Science. 2021. PMID: 34210852 Free PMC article.
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P, Sosina OA, Bovijn J, Landheer K, Nielsen JB, Kim M, Aykul S, De T, Haas ME, Hindy G, Lin N, Dinsmore IR, Luo JZ, Hectors S, Geraghty B, Germino M, Panagis L, Parasoglou P, Walls JR, Halasz G, Atwal GS; Regeneron Genetics Center; DiscovEHR Collaboration; Jones M, LeBlanc MG, Still CD, Carey DJ, Giontella A, Orho-Melander M, Berumen J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Rader DJ, Zambrowicz B, Murphy AJ, Balasubramanian S, Overton JD, Reid JG, Shuldiner AR, Cantor M, Abecasis GR, Ferreira MAR, Sleeman MW, Gusarova V, Altarejos J, Harris C, Economides AN, Idone V, Karalis K, Della Gatta G, Mirshahi T, Yancopoulos GD, Melander O, Marchini J, Tapia-Conyer R, Locke AE, Baras A, Verweij N, Lotta LA. Akbari P, et al. Among authors: della gatta g. Nat Commun. 2022 Aug 23;13(1):4844. doi: 10.1038/s41467-022-32398-7. Nat Commun. 2022. PMID: 35999217 Free PMC article.
Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.
Montasser ME, Van Hout CV, Miloscio L, Howard AD, Rosenberg A, Callaway M, Shen B, Li N, Locke AE, Verweij N, De T, Ferreira MA, Lotta LA, Baras A, Daly TJ, Hartford SA, Lin W, Mao Y, Ye B, White D, Gong G, Perry JA, Ryan KA, Fang Q, Tzoneva G, Pefanis E, Hunt C, Tang Y, Lee L; Regeneron Genetics Center Collaboration‡; Sztalryd-Woodle C, Mitchell BD, Healy M, Streeten EA, Taylor SI, O'Connell JR, Economides AN, Della Gatta G, Shuldiner AR. Montasser ME, et al. Among authors: della gatta g. Science. 2021 Dec 3;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 2. Science. 2021. PMID: 34855475
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.
Praveen K, Patel GC, Gurski L, Ayer AH, Persaud T, Still MD, Miloscio L, Van Zyl T, Di Gioia SA, Brumpton B, Krebs K, Åsvold BO, Chen E, Chavali VRM, Fury W, Gudiseva HV, Hyde S, Jorgenson E, Lefebvre S, Li D, Li A, Mclninch J, Patel B, Rabinowitz JS, Salowe R, Schurmann C, Seidelin AS, Stahl E, Sun D, Teslovich TM, Tybjærg-Hansen A, Willer C, Waldron S, Walley S, Yang H, Zaveri S; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Estonian Biobank Research Team; Hu Y, Hveem K, Melander O, Milani L, Stender S, O'Brien JM, Jones MB, Abecasis GR, Cantor MN, Weyne J, Karalis K, Economides A, Della Gatta G, Ferreira MA, Yancopoulos GD, Baras A, Romano C, Coppola G. Praveen K, et al. Among authors: della gatta g. Commun Biol. 2022 Oct 3;5(1):1051. doi: 10.1038/s42003-022-03932-6. Commun Biol. 2022. PMID: 36192519 Free PMC article.
ETV6 mutations in early immature human T cell leukemias.
Van Vlierberghe P, Ambesi-Impiombato A, Perez-Garcia A, Haydu JE, Rigo I, Hadler M, Tosello V, Della Gatta G, Paietta E, Racevskis J, Wiernik PH, Luger SM, Rowe JM, Rue M, Ferrando AA. Van Vlierberghe P, et al. Among authors: della gatta g. J Exp Med. 2011 Dec 19;208(13):2571-9. doi: 10.1084/jem.20112239. Epub 2011 Dec 12. J Exp Med. 2011. PMID: 22162831 Free PMC article. Clinical Trial.
Combinatorial ETS1-dependent control of oncogenic NOTCH1 enhancers in T-cell leukemia.
McCarter AC, Della Gatta G, Melnick A, Kim E, Sha C, Wang Q, Nalamolu JK, Liu Y, Keeley TM, Yan R, Sun M, Kodgule R, Kunnath N, Ambesi-Impiombato A, Kuick R, Rao A, Ryan RJH, Kee BL, Samuelson LC, Ostrowski MC, Ferrando AA, Chiang MY. McCarter AC, et al. Among authors: della gatta g. Blood Cancer Discov. 2020 Sep;1(2):178-197. doi: 10.1158/2643-3230.BCD-20-0026. Blood Cancer Discov. 2020. PMID: 32924017 Free PMC article.
26 results