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Your search keyword '"Loges, Niki Tomas"' showing total 3 results
Start Over Author "Loges, Niki Tomas" Journal nature genetics
3 results on '"Loges, Niki Tomas"'

1. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

Author

Wallmeier, Julia, primary, Al-Mutairi, Dalal A, additional, Chen, Chun-Ting, additional, Loges, Niki Tomas, additional, Pennekamp, Petra, additional, Menchen, Tabea, additional, Ma, Lina, additional, Shamseldin, Hanan E, additional, Olbrich, Heike, additional, Dougherty, Gerard W, additional, Werner, Claudius, additional, Alsabah, Basel H, additional, Köhler, Gabriele, additional, Jaspers, Martine, additional, Boon, Mieke, additional, Griese, Matthias, additional, Schmitt-Grohé, Sabina, additional, Zimmermann, Theodor, additional, Koerner-Rettberg, Cordula, additional, Horak, Elisabeth, additional, Kintner, Chris, additional, Alkuraya, Fowzan S, additional, and Omran, Heymut, additional

Published
2014
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2. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Author

Merveille, Anne-Christine, primary, Davis, Erica E, additional, Becker-Heck, Anita, additional, Legendre, Marie, additional, Amirav, Israel, additional, Bataille, Géraldine, additional, Belmont, John, additional, Beydon, Nicole, additional, Billen, Frédéric, additional, Clément, Annick, additional, Clercx, Cécile, additional, Coste, André, additional, Crosbie, Rachelle, additional, de Blic, Jacques, additional, Deleuze, Stephane, additional, Duquesnoy, Philippe, additional, Escalier, Denise, additional, Escudier, Estelle, additional, Fliegauf, Manfred, additional, Horvath, Judith, additional, Hill, Kent, additional, Jorissen, Mark, additional, Just, Jocelyne, additional, Kispert, Andreas, additional, Lathrop, Mark, additional, Loges, Niki Tomas, additional, Marthin, June K, additional, Momozawa, Yukihide, additional, Montantin, Guy, additional, Nielsen, Kim G, additional, Olbrich, Heike, additional, Papon, Jean-François, additional, Rayet, Isabelle, additional, Roger, Gilles, additional, Schmidts, Miriam, additional, Tenreiro, Henrique, additional, Towbin, Jeffrey A, additional, Zelenika, Diana, additional, Zentgraf, Hanswalter, additional, Georges, Michel, additional, Lequarré, Anne-Sophie, additional, Katsanis, Nicholas, additional, Omran, Heymut, additional, and Amselem, Serge, additional

Published
2010
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3. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Author

Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, and Amselem S

Subjects
Animals, Base Sequence, Cells, Cultured, Cytoskeletal Proteins, Dogs, Humans, Microscopy, Electron, Transmission, Molecular Sequence Data, Mutation, Proteins analysis, Proteins physiology, Cilia physiology, Ciliary Motility Disorders genetics, Dyneins genetics, Proteins genetics
Abstract

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus in about 50% of affected individuals (Kartagener syndrome). It is caused by motility defects in the respiratory cilia that are responsible for airway clearance, the flagella that propel sperm cells and the nodal monocilia that determine left-right asymmetry. Recessive mutations that cause PCD have been identified in genes encoding components of the outer dynein arms, radial spokes and cytoplasmic pre-assembly factors of axonemal dyneins, but these mutations account for only about 50% of cases of PCD. We exploited the unique properties of dog populations to positionally clone a new PCD gene, CCDC39. We found that loss-of-function mutations in the human ortholog underlie a substantial fraction of PCD cases with axonemal disorganization and abnormal ciliary beating. Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex.

Published
2011
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