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Page 1
Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension.
Ulrich A, Wu Y, Draisma H, Wharton J, Swietlik EM, Cebola I, Vasilaki E, Balkhiyarova Z, Jarvelin MR, Auvinen J, Herzig KH, Coghlan JG, Lordan J, Church C, Howard LS, Pepke-Zaba J, Toshner M, Wort SJ, Kiely DG, Condliffe R, Lawrie A, Gräf S, Morrell NW, Wilkins MR, Prokopenko I, Rhodes CJ. Ulrich A, et al. Among authors: cebola i. Nat Commun. 2024 Jan 6;15(1):330. doi: 10.1038/s41467-023-44683-0. Nat Commun. 2024. PMID: 38184627 Free PMC article.
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P, Mandla R, Huerta-Chagoya A, Alkanak A, Nagy D, Szczerbinski L, Madsen JGS, Cole JB, Porneala B, Westerman K, Li JH, Pollin TI, Florez JC, Gloyn AL, Cebola I, Manning A, Leong A, Udler M, Mercader JM. Schroeder P, et al. Among authors: cebola i. medRxiv [Preprint]. 2023 Sep 29:2023.09.28.23296244. doi: 10.1101/2023.09.28.23296244. medRxiv. 2023. PMID: 37808701 Free PMC article. Preprint.
Pre-RNA splicing in metabolic homeostasis and liver disease.
Jobbins AM, Yu S, Paterson HAB, Maude H, Kefala-Stavridi A, Speck C, Cebola I, Vernia S. Jobbins AM, et al. Among authors: cebola i. Trends Endocrinol Metab. 2023 Dec;34(12):823-837. doi: 10.1016/j.tem.2023.08.007. Epub 2023 Sep 4. Trends Endocrinol Metab. 2023. PMID: 37673766 Free article. Review.
Zooming into process-specific risk.
Maude H, Cebola I. Maude H, et al. Among authors: cebola i. Nat Metab. 2023 May;5(5):730-731. doi: 10.1038/s42255-023-00770-6. Nat Metab. 2023. PMID: 37253880 No abstract available.
Dax1 modulates ERα-dependent hypothalamic estrogen sensing in female mice.
Ramos-Pittol JM, Fernandes-Freitas I, Milona A, Manchishi SM, Rainbow K, Lam BYH, Tadross JA, Beucher A, Colledge WH, Cebola I, Murphy KG, Miguel-Aliaga I, Yeo GSH, Dhillo WS, Owen BM. Ramos-Pittol JM, et al. Among authors: cebola i. Nat Commun. 2023 May 29;14(1):3076. doi: 10.1038/s41467-023-38618-y. Nat Commun. 2023. PMID: 37248237 Free PMC article.
Integrative genomic analyses in adipocytes implicate DNA methylation in human obesity and diabetes.
McAllan L, Baranasic D, Villicaña S, Brown S, Zhang W, Lehne B, Adamo M, Jenkinson A, Elkalaawy M, Mohammadi B, Hashemi M, Fernandes N, Lambie N, Williams R, Christiansen C, Yang Y, Zudina L, Lagou V, Tan S, Castillo-Fernandez J, King JWD, Soong R, Elliott P, Scott J, Prokopenko I, Cebola I, Loh M, Lenhard B, Batterham RL, Bell JT, Chambers JC, Kooner JS, Scott WR. McAllan L, et al. Among authors: cebola i. Nat Commun. 2023 May 15;14(1):2784. doi: 10.1038/s41467-023-38439-z. Nat Commun. 2023. PMID: 37188674 Free PMC article.
SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension.
Walters R, Vasilaki E, Aman J, Chen CN, Wu Y, Liang OD, Ashek A, Dubois O, Zhao L, Sabrin F, Cebola I, Ferrer J, Morrell NW, Klinger JR, Wilkins MR, Zhao L, Rhodes CJ. Walters R, et al. Among authors: cebola i. Circulation. 2023 May 23;147(21):1606-1621. doi: 10.1161/CIRCULATIONAHA.122.061940. Epub 2023 Apr 17. Circulation. 2023. PMID: 37066790 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. 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.
Regulatory de novo mutations underlying intellectual disability.
De Vas MG, Boulet F, Joshi SS, Garstang MG, Khan TN, Atla G, Parry D, Moore D, Cebola I, Zhang S, Cui W, Lampe AK, Lam WW; Genomics England Research Consortium; Ferrer J, Pradeepa MM, Atanur SS. De Vas MG, et al. Among authors: cebola i. Life Sci Alliance. 2023 Feb 28;6(5):e202201843. doi: 10.26508/lsa.202201843. Print 2023 May. Life Sci Alliance. 2023. PMID: 36854624 Free PMC article.
30 results