Found: 6

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  • 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

  • The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 79, doi. 10.1038/ng.727
    By:
    • Becker-Heck, Anita;
    • Zohn, Irene E.;
    • Okabe, Noriko;
    • Pollock, Andrew;
    • Lenhart, Kari Baker;
    • Sullivan-Brown, Jessica;
    • McSheene, Jason;
    • Loges, Niki T.;
    • Olbrich, Heike;
    • Haeffner, Karsten;
    • Fliegauf, Manfred;
    • Horvath, Judith;
    • Reinhardt, Richard;
    • Nielsen, Kim G.;
    • Marthin, June K.;
    • Baktai, Gyorgy;
    • Anderson, Kathryn V.;
    • Geisler, Robert;
    • Niswander, Lee;
    • Omran, Heymut
    Publication type:
    Article

  • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

    Published in:
    Nature Genetics, 2011, v. 43, n. 1, p. 72, doi. 10.1038/ng.726
    By:
    • Merveille, Anne-Christine;
    • Davis, Erica E.;
    • Becker-Heck, Anita;
    • Legendre, Marie;
    • Amirav, Israel;
    • Bataille, Géraldine;
    • Belmont, John;
    • Beydon, Nicole;
    • Billen, Frédéric;
    • Clément, Annick;
    • Clercx, Cécile;
    • Coste, André;
    • Crosbie, Rachelle;
    • de Blic, Jacques;
    • Deleuze, Stephane;
    • Duquesnoy, Philippe;
    • Escalier, Denise;
    • Escudier, Estelle;
    • Fliegauf, Manfred;
    • Horvath, Judith
    Publication type:
    Article

  • Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

    Published in:
    Scientific Reports, 2015, p. 8666, doi. 10.1038/ncomms9666
    By:
    • Bizet, Albane A.;
    • Becker-Heck, Anita;
    • Ryan, Rebecca;
    • Weber, Kristina;
    • Filhol, Emilie;
    • Krug, Pauline;
    • Halbritter, Jan;
    • Delous, Marion;
    • Lasbennes, Marie-Christine;
    • Linghu, Bolan;
    • Oakeley, Edward J.;
    • Zarhrate, Mohammed;
    • Nitschké, Patrick;
    • Garfa-Traore, Meriem;
    • Serluca, Fabrizio;
    • Yang, Fan;
    • Bouwmeester, Tewis;
    • Pinson, Lucile;
    • Cassuto, Elisabeth;
    • Dubot, Philippe
    Publication type:
    Article

  • Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

    Published in:
    Nature Communications, 2015, v. 6, n. 10, p. 8666, doi. 10.1038/ncomms9666
    By:
    • Bizet, Albane A.;
    • Becker-Heck, Anita;
    • Ryan, Rebecca;
    • Weber, Kristina;
    • Filhol, Emilie;
    • Krug, Pauline;
    • Halbritter, Jan;
    • Delous, Marion;
    • Lasbennes, Marie-Christine;
    • Linghu, Bolan;
    • Oakeley, Edward J.;
    • Zarhrate, Mohammed;
    • Nitschké, Patrick;
    • Garfa-Traore, Meriem;
    • Serluca, Fabrizio;
    • Yang, Fan;
    • Bouwmeester, Tewis;
    • Pinson, Lucile;
    • Cassuto, Elisabeth;
    • Dubot, Philippe
    Publication type:
    Article

  • Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms.

    Published in:
    Human Mutation, 2013, v. 34, n. 3, p. 462, doi. 10.1002/humu.22261
    By:
    • Antony, Dinu;
    • Becker‐Heck, Anita;
    • Zariwala, Maimoona A.;
    • Schmidts, Miriam;
    • Onoufriadis, Alexandros;
    • Forouhan, Mitra;
    • Wilson, Robert;
    • Taylor‐Cox, Theresa;
    • Dewar, Ann;
    • Jackson, Claire;
    • Goggin, Patricia;
    • Loges, Niki T.;
    • Olbrich, Heike;
    • Jaspers, Martine;
    • Jorissen, Mark;
    • Leigh, Margaret W.;
    • Wolf, Whitney E.;
    • Daniels, M. Leigh Anne;
    • Noone, Peadar G.;
    • Ferkol, Thomas W.
    Publication type:
    Article