Citations for
1CCDC40, ICS17
Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia.
Ghandourah H, Dell SD.
BMJ Case Rep. Sep 12;2018:bcr2018224964. doi: 10.1136/bcr-2018-224964 2018
2CCDC40, ICS17
Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.
Yang L, Banerjee S, Cao J, Bai X, Peng Z, Chen H, Huang H, Han P, Feng S, Yi N, Song X, Wu J.
Front Genet. Feb 2;9:23. doi: 10.3389/fgene.2018.00023. eCollection 2018. 2018
3CCDC40, ICS17
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
Sui W, Hou X, Che W, Ou M, Sun G, Huang S, Liu F, Chen P, Wei X, Dai Y.
Clin Respir J. Sep;10(5):614-21. doi: 10.1111/crj.12268. Epub 2015 Mar 2016
4CCDC39, CCDC40, ICS16, ICS17
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM.
Hum Mutat. Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 1 2013
5CCDC39, CCDC40, ICS16, ICS17
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S.
J Med Genet 49(6):410-6. 2012
6CCDC39, CCDC40, ICS16, ICS17
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
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, Amselem S.
Nat Genet 43(1):72-8. Epub 2010 Dec 5. 2011
7CCDC39, CCDC40, ICS16, ICS17
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD.
Nat Genet 43(1):79-84. Epub 2010 Dec 5. 2011