Article
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
American journal of human genetics - 3 Oct 2013
Austin-Tse Christina, Halbritter Jan, Zariwala Maimoona A, Gilberti Renée M, Gee Heon Yung, Hellman Nathan, Pathak Narendra, Liu Yan, Panizzi Jennifer R, Patel-King Ramila S, Tritschler Douglas, Bower Raqual, O'Toole Eileen, Porath Jonathan D, Hurd Toby W, Chaki Moumita, Diaz Katrina A, Kohl Stefan, Lovric Svjetlana, Hwang Daw-Yang, Braun Daniela A, Schueler Markus, Airik Rannar, Otto Edgar A, Leigh Margaret W, Noone Peadar G, Carson Johnny L, Davis Stephanie D, Pittman Jessica E, Ferkol Thomas W, Atkinson Jeffry J, Olivier Kenneth N, Sagel Scott D, Dell Sharon D, Rosenfeld Margaret, Milla Carlos E, Loges Niki T, Omran Heymut, Porter Mary E, King Stephen M, Knowles Michael R, Drummond Iain A, Hildebrandt Friedhelm
Abstract excerpt
Primary ciliary dyskinesia (PCD) is caused when defects of motile cilia lead to chronic airway infections, male infertility, and situs abnormalities. Multiple causative PCD mutations account for only 65% of cases, suggesting that many genes essential for cilia function remain to be discovered. By using zebrafish morpholino knockdown of PCD candidate genes as an in vivo screening platform, we identified c21orf59,...
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