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Page 1
Mutations and variants of ONECUT1 in diabetes.
Philippi A, Heller S, Costa IG, Senée V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C, Kleger A. Philippi A, et al. Among authors: gaulton k. Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. Epub 2021 Oct 18. Nat Med. 2021. PMID: 34663987 Free PMC article.
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits.
Costanzo MC, von Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, Gilbert C, Welch RP, Kudtarkar P, Hoang Q, Boughton AP, Singh P, Sun Y, Duby M, Moriondo A, Nguyen T, Smadbeck P, Alexander BR, Brandes M, Carmichael M, Dornbos P, Green T, Huellas-Bruskiewicz KC, Ji Y, Kluge A, McMahon AC, Mercader JM, Ruebenacker O, Sengupta S, Spalding D, Taliun D; AMP-T2D Consortium; Smith P, Thomas MK, Akolkar B, Brosnan MJ, Cherkas A, Chu AY, Fauman EB, Fox CS, Kamphaus TN, Miller MR, Nguyen L, Parsa A, Reilly DF, Ruetten H, Wholley D, Zaghloul NA, Abecasis GR, Altshuler D, Keane TM, McCarthy MI, Gaulton KJ, Florez JC, Boehnke M, Burtt NP, Flannick J. Costanzo MC, et al. Among authors: gaulton kj. Cell Metab. 2023 Apr 4;35(4):695-710.e6. doi: 10.1016/j.cmet.2023.03.001. Epub 2023 Mar 23. Cell Metab. 2023. PMID: 36963395 Free PMC article.
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium; Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ. Rivas MA, et al. PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May. PLoS Genet. 2018. PMID: 29795570 Free PMC article.
Single cell multiome profiling of pancreatic islets reveals physiological changes in cell type-specific regulation associated with diabetes risk.
Mummey HM, Elison W, Korgaonkar K, Elgamal RM, Kudtarkar P, Griffin E, Benaglio P, Miller M, Jha A, Fox JEM, McCarthy MI, Preissl S, Gloyn AL, MacDonald PE, Gaulton KJ. Mummey HM, et al. Among authors: gaulton kj. bioRxiv [Preprint]. 2024 Aug 6:2024.08.03.606460. doi: 10.1101/2024.08.03.606460. bioRxiv. 2024. PMID: 39149326 Free PMC article. Preprint.
Single cell regulatory architecture of human pancreatic islets suggests sex differences in β cell function and the pathogenesis of type 2 diabetes.
Qadir MMF, Elgamal RM, Song K, Kudtarkar P, Sakamuri SSVP, Katakam PV, El-Dahr S, Kolls J, Gaulton KJ, Mauvais-Jarvis F. Qadir MMF, et al. Among authors: gaulton kj. bioRxiv [Preprint]. 2024 Jun 11:2024.04.11.589096. doi: 10.1101/2024.04.11.589096. bioRxiv. 2024. Update in: EMBO J. 2024 Dec;43(24):6364-6382. doi: 10.1038/s44318-024-00313-z PMID: 38645001 Free PMC article. Updated. Preprint.
Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal.
Kudtarkar P, Costanzo MC, Sun Y, Jang D, Koesterer R, Mychaleckyj JC, Nayak U, Onengut-Gumuscu S, Rich SS, Flannick JA, Gaulton KJ, Burtt NP. Kudtarkar P, et al. bioRxiv [Preprint]. 2023 Feb 5:2023.02.03.526066. doi: 10.1101/2023.02.03.526066. bioRxiv. 2023. Update in: PLoS Biol. 2023 Aug 10;21(8):e3002233. doi: 10.1371/journal.pbio.3002233 PMID: 36778413 Free PMC article. Updated. Preprint.
The single-cell opioid responses in the context of HIV (SCORCH) consortium.
Ament SA, Campbell RR, Lobo MK, Receveur JP, Agrawal K, Borjabad A, Byrareddy SN, Chang L, Clarke D, Emani P, Gabuzda D, Gaulton KJ, Giglio M, Giorgi FM, Gok B, Guda C, Hadas E, Herb BR, Hu W, Huttner A, Ishmam MR, Jacobs MM, Kelschenbach J, Kim DW, Lee C, Liu S, Liu X, Madras BK, Mahurkar AA, Mash DC, Mukamel EA, Niu M, O'Connor RM, Pagan CM, Pang APS, Pillai P, Repunte-Canonigo V, Ruzicka WB, Stanley J, Tickle T, Tsai SA, Wang A, Wills L, Wilson AM, Wright SN, Xu S, Yang J, Zand M, Zhang L, Zhang J, Akbarian S, Buch S, Cheng CS, Corley MJ, Fox HS, Gerstein M, Gummuluru S, Heiman M, Ho YC, Kellis M, Kenny PJ, Kluger Y, Milner TA, Moore DJ, Morgello S, Ndhlovu LC, Rana TM, Sanna PP, Satterlee JS, Sestan N, Spector SA, Spudich S, Tilgner HU, Volsky DJ, White OR, Williams DW, Zeng H. Ament SA, et al. Among authors: gaulton kj. Mol Psychiatry. 2024 Dec;29(12):3950-3961. doi: 10.1038/s41380-024-02620-7. Epub 2024 Jun 15. Mol Psychiatry. 2024. PMID: 38879719 Free PMC article.
Multi-ancestry Polygenic Mechanisms of Type 2 Diabetes Elucidate Disease Processes and Clinical Heterogeneity.
Smith K, Deutsch AJ, McGrail C, Kim H, Hsu S, Mandla R, Schroeder PH, Westerman KE, Szczerbinski L, Majarian TD, Kaur V, Williamson A, Claussnitzer M, Florez JC, Manning AK, Mercader JM, Gaulton KJ, Udler MS. Smith K, et al. Among authors: gaulton kj. Res Sq [Preprint]. 2023 Oct 9:rs.3.rs-3399145. doi: 10.21203/rs.3.rs-3399145/v1. Res Sq. 2023. Update in: Nat Med. 2024 Apr;30(4):1065-1074. doi: 10.1038/s41591-024-02865-3 PMID: 37886436 Free PMC article. Updated. Preprint.
Multi-ancestry Polygenic Mechanisms of Type 2 Diabetes Elucidate Disease Processes and Clinical Heterogeneity.
Smith K, Deutsch AJ, McGrail C, Kim H, Hsu S, Mandla R, Schroeder PH, Westerman KE, Szczerbinski L, Majarian TD, Kaur V, Williamson A, Claussnitzer M, Florez JC, Manning AK, Mercader JM, Gaulton KJ, Udler MS. Smith K, et al. Among authors: gaulton kj. medRxiv [Preprint]. 2023 Sep 29:2023.09.28.23296294. doi: 10.1101/2023.09.28.23296294. medRxiv. 2023. Update in: Nat Med. 2024 Apr;30(4):1065-1074. doi: 10.1038/s41591-024-02865-3 PMID: 37808749 Free PMC article. Updated. Preprint.
Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research.
Costanzo MC, Roselli C, Brandes M, Duby M, Hoang Q, Jang D, Koesterer R, Kudtarkar P, Moriondo A, Nguyen T, Ruebenacker O, Smadbeck P, Sun Y, Butterworth AS, Aragam KG, Lumbers RT, Khera AV, Lubitz SA, Ellinor PT, Gaulton KJ, Flannick J, Burtt NP. Costanzo MC, et al. Circ Genom Precis Med. 2023 Dec;16(6):e004181. doi: 10.1161/CIRCGEN.123.004181. Epub 2023 Oct 10. Circ Genom Precis Med. 2023. PMID: 37814896 Free PMC article. No abstract available.
107 results