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1205 related items for PubMed ID: 22335739

  • 1. Truncations of titin causing dilated cardiomyopathy.
    Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE.
    N Engl J Med; 2012 Feb 16; 366(7):619-28. PubMed ID: 22335739
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  • 2. Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.
    Matsumoto Y, Hayashi T, Inagaki N, Takahashi M, Hiroi S, Nakamura T, Arimura T, Nakamura K, Ashizawa N, Yasunami M, Ohe T, Yano K, Kimura A.
    J Muscle Res Cell Motil; 2005 Feb 16; 26(6-8):367-74. PubMed ID: 16465475
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  • 3. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
    Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás K, Sasse-Klaassen S, Seidman JG, Seidman C, Granzier H, Labeit S, Frenneaux M, Thierfelder L.
    Nat Genet; 2002 Feb 16; 30(2):201-4. PubMed ID: 11788824
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  • 4. Titin-truncating mutations associated with dilated cardiomyopathy alter length-dependent activation and its modulation via phosphorylation.
    Vikhorev PG, Vikhoreva NN, Yeung W, Li A, Lal S, Dos Remedios CG, Blair CA, Guglin M, Campbell KS, Yacoub MH, de Tombe P, Marston SB.
    Cardiovasc Res; 2022 Jan 07; 118(1):241-253. PubMed ID: 33135063
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  • 7. Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
    Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L.
    J Mol Med (Berl); 2006 Jun 07; 84(6):478-83. PubMed ID: 16733766
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  • 9. 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):. PubMed ID: 26567375
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  • 10. Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
    Gramlich M, Michely B, Krohne C, Heuser A, Erdmann B, Klaassen S, Hudson B, Magarin M, Kirchner F, Todiras M, Granzier H, Labeit S, Thierfelder L, Gerull B.
    J Mol Cell Cardiol; 2009 Sep 13; 47(3):352-8. PubMed ID: 19406126
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  • 11. The pathogenic gene screening in a Chinese familial dilated cardiomyopathy pedigree from Hubei.
    Lyu Y, Chen J, Xu H.
    Gene; 2018 Feb 05; 642():159-162. PubMed ID: 29109008
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  • 12. Prevalence of Titin Truncating Variants in General Population.
    Akinrinade O, Koskenvuo JW, Alastalo TP.
    PLoS One; 2015 Feb 05; 10(12):e0145284. PubMed ID: 26701604
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  • 13. Clinical Considerations for a Family with Dilated Cardiomyopathy, Sudden Cardiac Death, and a Novel TTN Frameshift Mutation.
    Micaglio E, Monasky MM, Bernardini A, Mecarocci V, Borrelli V, Ciconte G, Locati ET, Piccoli M, Ghiroldi A, Anastasia L, Pappone C.
    Int J Mol Sci; 2021 Jan 12; 22(2):. PubMed ID: 33445410
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  • 19. A novel titin mutation in adult-onset familial dilated cardiomyopathy.
    Yoskovitz G, Peled Y, Gramlich M, Lahat H, Resnik-Wolf H, Feinberg MS, Afek A, Pras E, Arad M, Gerull B, Freimark D.
    Am J Cardiol; 2012 Jun 01; 109(11):1644-50. PubMed ID: 22475360
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  • 20. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
    Bos JM, Poley RN, Ny M, Tester DJ, Xu X, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ.
    Mol Genet Metab; 2006 May 01; 88(1):78-85. PubMed ID: 16352453
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