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Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. Whiffin N, et al. Among authors: chothani s. Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. Nat Commun. 2020. PMID: 32461616 Free PMC article.
IL-11 is a crucial determinant of cardiovascular fibrosis.
Schafer S, Viswanathan S, Widjaja AA, Lim WW, Moreno-Moral A, DeLaughter DM, Ng B, Patone G, Chow K, Khin E, Tan J, Chothani SP, Ye L, Rackham OJL, Ko NSJ, Sahib NE, Pua CJ, Zhen NTG, Xie C, Wang M, Maatz H, Lim S, Saar K, Blachut S, Petretto E, Schmidt S, Putoczki T, Guimarães-Camboa N, Wakimoto H, van Heesch S, Sigmundsson K, Lim SL, Soon JL, Chao VTT, Chua YL, Tan TE, Evans SM, Loh YJ, Jamal MH, Ong KK, Chua KC, Ong BH, Chakaramakkil MJ, Seidman JG, Seidman CE, Hubner N, Sin KYK, Cook SA. Schafer S, et al. Among authors: chothani sp. Nature. 2017 Dec 7;552(7683):110-115. doi: 10.1038/nature24676. Epub 2017 Nov 13. Nature. 2017. PMID: 29160304 Free PMC article.
Widespread Translational Control of Fibrosis in the Human Heart by RNA-Binding Proteins.
Chothani S, Schäfer S, Adami E, Viswanathan S, Widjaja AA, Langley SR, Tan J, Wang M, Quaife NM, Jian Pua C, D'Agostino G, Guna Shekeran S, George BL, Lim S, Yiqun Cao E, van Heesch S, Witte F, Felkin LE, Christodoulou EG, Dong J, Blachut S, Patone G, Barton PJR, Hubner N, Cook SA, Rackham OJL. Chothani S, et al. Circulation. 2019 Sep 10;140(11):937-951. doi: 10.1161/CIRCULATIONAHA.119.039596. Epub 2019 Jul 9. Circulation. 2019. PMID: 31284728 Free PMC article.
Interleukin-11 is a therapeutic target in idiopathic pulmonary fibrosis.
Ng B, Dong J, D'Agostino G, Viswanathan S, Widjaja AA, Lim WW, Ko NSJ, Tan J, Chothani SP, Huang B, Xie C, Pua CJ, Chacko AM, Guimarães-Camboa N, Evans SM, Byrne AJ, Maher TM, Liang J, Jiang D, Noble PW, Schafer S, Cook SA. Ng B, et al. Among authors: chothani sp. Sci Transl Med. 2019 Sep 25;11(511):eaaw1237. doi: 10.1126/scitranslmed.aaw1237. Sci Transl Med. 2019. PMID: 31554736
Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy.
Guo J, Rackham OJL, Sandholm N, He B, Österholm AM, Valo E, Harjutsalo V, Forsblom C, Toppila I, Parkkonen M, Li Q, Zhu W, Harmston N, Chothani S, Öhman MK, Eng E, Sun Y, Petretto E, Groop PH, Tryggvason K. Guo J, et al. Among authors: chothani s. J Am Soc Nephrol. 2020 Feb;31(2):309-323. doi: 10.1681/ASN.2019030289. Epub 2020 Jan 9. J Am Soc Nephrol. 2020. PMID: 31919106 Free PMC article.
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