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PKN2 deficiency leads both to prenatal 'congenital' cardiomyopathy and defective angiotensin II stress responses.
Marshall JJT, Cull JJ, Alharbi HO, Zaw Thin M, Cooper STE, Barrington C, Vanyai H, Snoeks T, Siow B, Suáarez-Bonnet A, Herbert E, Stuckey DJ, Cameron AJM, Prin F, Cook AC, Priestnall SL, Chotani S, Rackham OJL, Meijles DN, Mohun T, Clerk A, Parker PJ. Marshall JJT, et al. Among authors: rackham ojl. Biochem J. 2022 Jul 15;479(13):1467-1486. doi: 10.1042/BCJ20220281. Biochem J. 2022. PMID: 35730579 Free PMC article.
Cardiomyocyte BRAF and type 1 RAF inhibitors promote cardiomyocyte and cardiac hypertrophy in mice in vivo.
Clerk A, Meijles DN, Hardyman MA, Fuller SJ, Chothani SP, Cull JJ, Cooper STE, Alharbi HO, Vanezis K, Felkin LE, Markou T, Leonard SJ, Shaw SW, Rackham OJL, Cook SA, Glennon PE, Sheppard MN, Sembrat JC, Rojas M, McTiernan CF, Barton PJ, Sugden PH. Clerk A, et al. Among authors: rackham ojl. Biochem J. 2022 Feb 11;479(3):401-424. doi: 10.1042/BCJ20210615. Biochem J. 2022. PMID: 35147166 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. Among authors: rackham ojl. 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.
Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, Rackham OJ, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJ, Ko NS, Sim D, Chan LL, Chin CW, Mazzarotto F, Barton PJ, Kreuchwig F, de Kleijn DP, Totman T, Biffi C, Tee N, Rueckert D, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O'Regan D, Ware JS, Hubner N, Cook SA. Schafer S, et al. Nat Genet. 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719. Epub 2016 Nov 21. Nat Genet. 2017. PMID: 27869827 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: rackham ojl. Nature. 2017 Dec 7;552(7683):110-115. doi: 10.1038/nature24676. Epub 2017 Nov 13. Nature. 2017. PMID: 29160304 Free PMC article.
Author Correction: WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling.
Chen H, Moreno-Moral A, Pesce F, Devapragash N, Mancini M, Heng EL, Rotival M, Srivastava PK, Harmston N, Shkura K, Rackham OJL, Yu WP, Sun XM, Tee NGZ, Tan ELS, Barton PJR, Felkin LE, Lara-Pezzi E, Angelini G, Beltrami C, Pravenec M, Schafer S, Bottolo L, Hubner N, Emanueli C, Cook SA, Petretto E. Chen H, et al. Among authors: rackham ojl. Nat Commun. 2019 Sep 9;10(1):4085. doi: 10.1038/s41467-019-12060-5. Nat Commun. 2019. PMID: 31501434 Free PMC article.
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: rackham ojl. 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.
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. Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. Nat Commun. 2020. PMID: 32461616 Free PMC article.
Author Correction: 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. Nat Commun. 2021 Feb 2;12(1):839. doi: 10.1038/s41467-021-21052-3. Nat Commun. 2021. PMID: 33531501 Free PMC article. No abstract available.
70 results