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Journal Abstract Search

225 related items for PubMed ID: 30858397

  • 1. Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
    Akinrinade O, Heliö T, Lekanne Deprez RH, Jongbloed JDH, Boven LG, van den Berg MP, Pinto YM, Alastalo TP, Myllykangas S, Spaendonck-Zwarts KV, van Tintelen JP, van der Zwaag PA, Koskenvuo J.
    Sci Rep; 2019 Mar 11; 9(1):4093. PubMed ID: 30858397
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  • 3. Relevance of truncating titin mutations in dilated cardiomyopathy.
    Akinrinade O, Alastalo TP, Koskenvuo JW.
    Clin Genet; 2016 Jul 11; 90(1):49-54. PubMed ID: 26777568
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  • 4. Prevalence of Titin Truncating Variants in General Population.
    Akinrinade O, Koskenvuo JW, Alastalo TP.
    PLoS One; 2015 Jul 11; 10(12):e0145284. PubMed ID: 26701604
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  • 6. Reading Frame Repair of TTN Truncation Variants Restores Titin Quantity and Functions.
    Romano R, Ghahremani S, Zimmerman T, Legere N, Thakar K, Ladha FA, Pettinato AM, Hinson JT.
    Circulation; 2022 Jan 18; 145(3):194-205. PubMed ID: 34905694
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  • 10. 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. PubMed ID: 25589632
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  • 11. 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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  • 13. Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study.
    Zaklyazminskaya E, Mikhailov V, Bukaeva A, Kotlukova N, Povolotskaya I, Kaimonov V, Dombrovskaya A, Dzemeshkevich S.
    Sci Rep; 2019 Nov 11; 9(1):16409. PubMed ID: 31712709
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  • 15. 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 11; 9(3):207-223. PubMed ID: 28510119
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  • 19. A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies.
    Gigli M, Begay RL, Morea G, Graw SL, Sinagra G, Taylor MR, Granzier H, Mestroni L.
    Front Cardiovasc Med; 2016 Jun 11; 3():21. PubMed ID: 27493940
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  • 20. Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.
    Liu JS, Fan LL, Zhang H, Liu X, Huang H, Tao LJ, Xia K, Xiang R.
    Cardiology; 2017 Jun 11; 136(1):10-14. PubMed ID: 27544385
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