Works matching DE "DYNEIN genetics"

Results: 8
    1

    DYX1C1 is required for axonemal dynein assembly and ciliary motility.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 995, doi. 10.1038/ng.2707
    By:
    • Tarkar, Aarti;
    • Loges, Niki T;
    • Slagle, Christopher E;
    • Francis, Richard;
    • Dougherty, Gerard W;
    • Tamayo, Joel V;
    • Shook, Brett;
    • Cantino, Marie;
    • Schwartz, Daniel;
    • Jahnke, Charlotte;
    • Olbrich, Heike;
    • Werner, Claudius;
    • Raidt, Johanna;
    • Pennekamp, Petra;
    • Abouhamed, Marouan;
    • Hjeij, Rim;
    • Köhler, Gabriele;
    • Griese, Matthias;
    • Li, You;
    • Lemke, Kristi
    Publication type:
    Article
    2

    CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

    Published in:
    Nature Genetics, 2012, v. 44, n. 6, p. 714, doi. 10.1038/ng.2277
    By:
    • Panizzi, Jennifer R;
    • Becker-Heck, Anita;
    • Castleman, Victoria H;
    • Al-Mutairi, Dalal A;
    • Liu, Yan;
    • Loges, Niki T;
    • Pathak, Narendra;
    • Austin-Tse, Christina;
    • Sheridan, Eamonn;
    • Schmidts, Miriam;
    • Olbrich, Heike;
    • Werner, Claudius;
    • Häffner, Karsten;
    • Hellman, Nathan;
    • Chodhari, Rahul;
    • Gupta, Amar;
    • Kramer-Zucker, Albrecht;
    • Olale, Felix;
    • Burdine, Rebecca D;
    • Schier, Alexander F
    Publication type:
    Article
    3
    4

    Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome.

    Published in:
    Clinical Genetics, 2018, v. 93, n. 3, p. 632, doi. 10.1111/cge.13128
    By:
    • Niceta, M.;
    • Margiotti, K.;
    • Digilio, M. C.;
    • Guida, V.;
    • Bruselles, A.;
    • Pizzi, S.;
    • Ferraris, A.;
    • Memo, L.;
    • Laforgia, N.;
    • Dentici, M. L.;
    • Consoli, F.;
    • Torrente, I.;
    • Ruiz‐perez, V. L.;
    • Dallapiccola, B.;
    • Marino, B.;
    • De Luca, A.;
    • Tartaglia, M.
    Publication type:
    Article
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