Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B...

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Veröffentlicht in:	American journal of human genetics 2020-06, Vol.106 (6), p.893-904
Hauptverfasser:	Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Buckley, Reuben M., Aberdein, Danielle, Alves, Paulo C., Barsh, Gregory S., Bellone, Rebecca R., Bergström, Tomas F., Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Harvey, Robert J., Hasegawa, Daisuke, Haase, Bianca, Helps, Christopher R., Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kaelin, Christopher B., Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivas P., Munday, John S., Murphy, William J., Pedersen, Niels C., Rothschild, Max F., Rusbridge, Clare, Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H., Yu, Yoshihiko, Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Cats Child, Preschool Cilia - pathology Ciliopathies - genetics Ciliopathies - pathology feline genetics Female Genes, Dominant - genetics Genome-Wide Association Study hepatic fibrosis Heterozygote Humans KIF3B kinesin Kinesin - chemistry Kinesin - genetics Kinesin - metabolism Larva Life Sciences Male Middle Aged Mutation Pedigree Phenotype Photoreceptor Cells - metabolism primary cilia Retina - cytology Retina - growth & development Retina - metabolism Retina - pathology retinopathy Rhodopsin - metabolism whole-exome sequencing Young Adult zebrafish Zebrafish - genetics Zebrafish - growth & development
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