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Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.
Fomin A, Gärtner A, Cyganek L, Tiburcy M, Tuleta I, Wellers L, Folsche L, Hobbach AJ, von Frieling-Salewsky M, Unger A, Hucke A, Koser F, Kassner A, Sielemann K, Streckfuß-Bömeke K, Hasenfuss G, Goedel A, Laugwitz KL, Moretti A, Gummert JF, Dos Remedios CG, Reinecke H, Knöll R, van Heesch S, Hubner N, Zimmermann WH, Milting H, Linke WA. Fomin A, et al. Among authors: hubner n. Sci Transl Med. 2021 Nov 3;13(618):eabd3079. doi: 10.1126/scitranslmed.abd3079. Epub 2021 Nov 3. Sci Transl Med. 2021. PMID: 34731013
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, de Marvao A, Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA. Roberts AM, et al. Among authors: hubner n. Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134. Sci Transl Med. 2015. PMID: 25589632 Free PMC article.
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
Hinson JT, Chopra A, Nafissi N, Polacheck WJ, Benson CC, Swist S, Gorham J, Yang L, Schafer S, Sheng CC, Haghighi A, Homsy J, Hubner N, Church G, Cook SA, Linke WA, Chen CS, Seidman JG, Seidman CE. Hinson JT, et al. Among authors: hubner n. Science. 2015 Aug 28;349(6251):982-6. doi: 10.1126/science.aaa5458. Science. 2015. PMID: 26315439 Free PMC article.
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali A, Bollen IA, Rasmussen TB, van den Hoogenhof MM, van Deutekom HW, Schafer S, Haas J, Meder B, Sørensen KE, van Oort RJ, Mogensen J, Hubner N, Creemers EE, van der Velden J, Pinto YM. Beqqali A, et al. Among authors: hubner n. Cardiovasc Res. 2016 Oct;112(1):452-63. doi: 10.1093/cvr/cvw192. Epub 2016 Aug 5. Cardiovasc Res. 2016. PMID: 27496873
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. Among authors: hubner n. 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.
Epigenetics and Control of RNAs.
Maatz H, van Heesch S, Kreuchwig F, Faber A, Adami E, Hubner N, Heinig M. Maatz H, et al. Among authors: hubner n. Methods Mol Biol. 2017;1488:217-237. doi: 10.1007/978-1-4939-6427-7_9. Methods Mol Biol. 2017. PMID: 27933526
The Translational Landscape of the Human Heart.
van Heesch S, Witte F, Schneider-Lunitz V, Schulz JF, Adami E, Faber AB, Kirchner M, Maatz H, Blachut S, Sandmann CL, Kanda M, Worth CL, Schafer S, Calviello L, Merriott R, Patone G, Hummel O, Wyler E, Obermayer B, Mücke MB, Lindberg EL, Trnka F, Memczak S, Schilling M, Felkin LE, Barton PJR, Quaife NM, Vanezis K, Diecke S, Mukai M, Mah N, Oh SJ, Kurtz A, Schramm C, Schwinge D, Sebode M, Harakalova M, Asselbergs FW, Vink A, de Weger RA, Viswanathan S, Widjaja AA, Gärtner-Rommel A, Milting H, Dos Remedios C, Knosalla C, Mertins P, Landthaler M, Vingron M, Linke WA, Seidman JG, Seidman CE, Rajewsky N, Ohler U, Cook SA, Hubner N. van Heesch S, et al. Among authors: hubner n. Cell. 2019 Jun 27;178(1):242-260.e29. doi: 10.1016/j.cell.2019.05.010. Epub 2019 May 30. Cell. 2019. PMID: 31155234 Free 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: hubner n. 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.
417 results