Works matching DE "CONNECTIN"


Results: 340
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    Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2392, doi. 10.1002/acn3.52154
    By:
    • Ranta‐aho, Johanna;
    • Felice, Kevin J.;
    • Jonson, Per Harald;
    • Sarparanta, Jaakko;
    • Yvorel, Cédric;
    • Harzallah, Ines;
    • Touraine, Renaud;
    • Pais, Lynn;
    • Austin‐Tse, Christina A.;
    • Ganesh, Vijay S.;
    • O'Leary, Melanie C.;
    • Rehm, Heidi L.;
    • Hehir, Michael K.;
    • Subramony, Sub;
    • Wu, Qian;
    • Udd, Bjarne;
    • Savarese, Marco
    Publication type:
    Article
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    Social, Genetics and Histopathological Factors Related to Titin (TTN) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis.

    Published in:
    Genes, 2023, v. 14, n. 5, p. 1092, doi. 10.3390/genes14051092
    By:
    • Gomes, Fabiana de Campos;
    • Figueiredo, Eric Renato Lima;
    • Araújo, Ediane Nunes De;
    • Andrade, Edila Monteiro De;
    • Carneiro, Carlos Diego Lisbôa;
    • Almeida, Gabriel Mácola De;
    • Dias, Helana Augusta Andrade Leal;
    • Teixeira, Lucélia Inoue Bispo;
    • Almeida, Manuela Trindade;
    • Farias, Mariusa Fernandes De;
    • Linhares, Natália Albim;
    • Fonseca, Natasha Lima Da;
    • Pereira, Yago Dos Santos;
    • Melo-Neto, João Simão de
    Publication type:
    Article
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    Functional abnormalities in induced Pluripotent Stem Cell-derived cardiomyocytes generated from titin-mutated patients with dilated cardiomyopathy.

    Published in:
    PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205719
    By:
    • Schick, Revital;
    • Mekies, Lucy N.;
    • Shemer, Yuval;
    • Eisen, Binyamin;
    • Hallas, Tova;
    • Ben Jehuda, Ronen;
    • Ben-Ari, Meital;
    • Szantai, Agnes;
    • Willi, Lubna;
    • Shulman, Rita;
    • Gramlich, Michael;
    • Pane, Luna Simona;
    • My, Ilaria;
    • Freimark, Dov;
    • Murgia, Marta;
    • Santamaria, Gianluca;
    • Gherghiceanu, Mihaela;
    • Arad, Michael;
    • Moretti, Alessandra;
    • Binah, Ofer
    Publication type:
    Article
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    RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.

    Published in:
    Nature Medicine, 2012, v. 18, n. 5, p. 766, doi. 10.1038/nm.2693
    By:
    • Guo, Wei;
    • Schafer, Sebastian;
    • Greaser, Marion L;
    • Radke, Michael H;
    • Liss, Martin;
    • Govindarajan, Thirupugal;
    • Maatz, Henrike;
    • Schulz, Herbert;
    • Li, Shijun;
    • Parrish, Amanda M;
    • Dauksaite, Vita;
    • Vakeel, Padmanabhan;
    • Klaassen, Sabine;
    • Gerull, Brenda;
    • Thierfelder, Ludwig;
    • Regitz-Zagrosek, Vera;
    • Hacker, Timothy A;
    • Saupe, Kurt W;
    • Dec, G William;
    • Ellinor, Patrick T
    Publication type:
    Article
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    Titin mutations and muscle disease.

    Published in:
    Pflügers Archiv: European Journal of Physiology, 2019, v. 471, n. 5, p. 673, doi. 10.1007/s00424-019-02272-5
    By:
    • Kellermayer, Dalma;
    • Smith, John E.;
    • Granzier, Henk
    Publication type:
    Article
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    Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload.

    Published in:
    eLife, 2021, p. 1, doi. 10.7554/eLife.58313
    By:
    • Filomena, Maria Carmela;
    • Yamamoto, Daniel L.;
    • Carullo, Pierluigi;
    • Medvedev, Roman;
    • Ghisleni, Andrea;
    • Piroddi, Nicoletta;
    • Scellini, Beatrice;
    • Crispino, Roberta;
    • D'Autilia, Francesca;
    • Jianlin Zhang;
    • Felicetta, Arianna;
    • Nemska, Simona;
    • Serio, Simone;
    • Tesi, Chiara;
    • Catalucci, Daniele;
    • Linke, Wolfgang A.;
    • Polishchuk, Roman;
    • Poggesi, Corrado;
    • Gautel, Mathias;
    • Bang, Marie-Louise
    Publication type:
    Article
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