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Items: 1 to 20 of 116

1.

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.

Nat Genet. 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719. Epub 2016 Nov 21.

2.

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.

Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.

3.

Relevance of truncating titin mutations in dilated cardiomyopathy.

Akinrinade O, Alastalo TP, Koskenvuo JW.

Clin Genet. 2016 Jul;90(1):49-54. doi: 10.1111/cge.12741. Epub 2016 Feb 19.

PMID:
26777568
4.

Prevalence of Titin Truncating Variants in General Population.

Akinrinade O, Koskenvuo JW, Alastalo TP.

PLoS One. 2015 Dec 23;10(12):e0145284. doi: 10.1371/journal.pone.0145284. eCollection 2015.

5.

Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.

Tabish AM, Azzimato V, Alexiadis A, Buyandelger B, Knöll R.

Biophys Rev. 2017 Jun;9(3):207-223. doi: 10.1007/s12551-017-0265-7. Epub 2017 May 5. Review.

6.

Phenotype and Clinical Outcomes of Titin Cardiomyopathy.

Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SA.

J Am Coll Cardiol. 2017 Oct 31;70(18):2264-2274. doi: 10.1016/j.jacc.2017.08.063.

7.

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.

Vikhorev PG, Smoktunowicz N, Munster AB, Copeland O, Kostin S, Montgiraud C, Messer AE, Toliat MR, Li A, Dos Remedios CG, Lal S, Blair CA, Campbell KS, Guglin M, Richter M, Knöll R, Marston SB.

Sci Rep. 2017 Nov 1;7(1):14829. doi: 10.1038/s41598-017-13675-8. Erratum in: Sci Rep. 2018 Sep 24;8(1):14485.

8.

Titin-truncating mutations in dilated cardiomyopathy: the long and short of it.

Fatkin D, Huttner IG.

Curr Opin Cardiol. 2017 Feb 1. doi: 10.1097/HCO.0000000000000382. [Epub ahead of print]

PMID:
28151760
9.

Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy.

Zhang C, Zhang H, Wu G, Luo X, Zhang C, Zou Y, Wang H, Hui R, Wang J, Song L.

Can J Cardiol. 2017 Oct;33(10):1292-1297. doi: 10.1016/j.cjca.2017.05.020. Epub 2017 Jun 8.

PMID:
28822653
10.

Exon- and contraction-dependent functions of titin in sarcomere assembly.

Shih YH, Dvornikov AV, Zhu P, Ma X, Kim M, Ding Y, Xu X.

Development. 2016 Dec 15;143(24):4713-4722. Epub 2016 Nov 11.

11.

Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias.

Verdonschot JAJ, Hazebroek MR, Derks KWJ, Barandiarán Aizpurua A, Merken JJ, Wang P, Bierau J, van den Wijngaard A, Schalla SM, Abdul Hamid MA, van Bilsen M, van Empel VPM, Knackstedt C, Brunner-La Rocca HP, Brunner HG, Krapels IPC, Heymans SRB.

Eur Heart J. 2018 Mar 7;39(10):864-873. doi: 10.1093/eurheartj/ehx808.

PMID:
29377983
12.

Titin-truncating variants are associated with heart failure events in patients with left ventricular non-compaction cardiomyopathy.

Li S, Zhang C, Liu N, Bai H, Hou C, Song L, Pu J.

Clin Cardiol. 2019 May;42(5):530-535. doi: 10.1002/clc.23172. Epub 2019 Apr 16.

13.

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

Franaszczyk M, Chmielewski P, Truszkowska G, Stawinski P, Michalak E, Rydzanicz M, Sobieszczanska-Malek M, Pollak A, Szczygieł J, Kosinska J, Parulski A, Stoklosa T, Tarnowska A, Machnicki MM, Foss-Nieradko B, Szperl M, Sioma A, Kusmierczyk M, Grzybowski J, Zielinski T, Ploski R, Bilinska ZT.

PLoS One. 2017 Jan 3;12(1):e0169007. doi: 10.1371/journal.pone.0169007. eCollection 2017.

14.

Role of Titin Missense Variants in Dilated Cardiomyopathy.

Begay RL, Graw S, Sinagra G, Merlo M, Slavov D, Gowan K, Jones KL, Barbati G, Spezzacatene A, Brun F, Di Lenarda A, Smith JE, Granzier HL, Mestroni L, Taylor M; Familial Cardiomyopathy Registry.

J Am Heart Assoc. 2015 Nov 13;4(11). pii: e002645. doi: 10.1161/JAHA.115.002645.

15.

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.

Science. 2015 Aug 28;349(6251):982-6. doi: 10.1126/science.aaa5458.

16.

Association of Titin-Truncating Genetic Variants With Life-threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators.

Corden B, Jarman J, Whiffin N, Tayal U, Buchan R, Sehmi J, Harper A, Midwinter W, Lascelles K, Markides V, Mason M, Baksi J, Pantazis A, Pennell DJ, Barton PJ, Prasad SK, Wong T, Cook SA, Ware JS.

JAMA Netw Open. 2019 Jun 5;2(6):e196520. doi: 10.1001/jamanetworkopen.2019.6520.

PMID:
31251381
17.

Truncations of the titin Z-disc predispose to a heart failure with preserved ejection phenotype in the context of pressure overload.

Ye L, Su L, Wang C, Loo S, Tee G, Tan S, Khin SW, Ko S, Su B, Cook SA.

PLoS One. 2018 Jul 31;13(7):e0201498. doi: 10.1371/journal.pone.0201498. eCollection 2018.

18.

Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo.

Zhou J, Ng B, Ko NSJ, Fiedler LR, Khin E, Lim A, Sahib NE, Wu Y, Chothani SP, Schafer S, Bay BH, Sinha RA, Cook SA, Yen PM.

Hum Mol Genet. 2019 Jun 15;28(12):1971-1981. doi: 10.1093/hmg/ddz033.

PMID:
30715350
19.

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

Ware JS, Li J, Mazaika E, Yasso CM, DeSouza T, Cappola TP, Tsai EJ, Hilfiker-Kleiner D, Kamiya CA, Mazzarotto F, Cook SA, Halder I, Prasad SK, Pisarcik J, Hanley-Yanez K, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Kealey A, Alexis J, Ramani G, Safirstein J, Boehmer J, Pauly DF, Wittstein IS, Thohan V, Zucker MJ, Liu P, Gorcsan J 3rd, McNamara DM, Seidman CE, Seidman JG, Arany Z; IMAC-2 and IPAC Investigators.

N Engl J Med. 2016 Jan 21;374(3):233-41. doi: 10.1056/NEJMoa1505517. Epub 2016 Jan 6.

20.

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.

Haggerty CM, Damrauer SM, Levin MG, Birtwell D, Carey DJ, Golden AM, Hartzel DN, Hu Y, Judy R, Kelly MA, Kember RL, Lester Kirchner H, Leader JB, Liang L, McDermott-Roe C, Babu A, Morley M, Nealy Z, Person TN, Pulenthiran A, Small A, Smelser DT, Stahl RC, Sturm AC, Williams H, Baras A, Margulies KB, Cappola TP, Dewey FE, Verma A, Zhang X, Correa A, Hall ME, Wilson JG, Ritchie MD, Rader DJ, Murray MF, Fornwalt BK, Arany Z.

Circulation. 2019 Jul 2;140(1):42-54. doi: 10.1161/CIRCULATIONAHA.119.039573. Epub 2019 Jun 20.

PMID:
31216868

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