Citations for
1CCDC39, 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
2CCDC39, 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
3CCDC39, 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
4ABCA11P, ABHD6, ABHD8, ACBD4, AKD1, AMER3, ANKRD13B, ANKRD39, ANKRD53, ANKRD55, ANTXRL, ANXA8L2, ARMCX4, ASTN1, BORCS6, BTNL8, C10orf140, C10orf53, C10orf68, C10orf72, C10orf76, C11orf65, C12orf41, C12orf42, C12orf59, C12orf63, C13orf23, C14orf132, C14orf166B, C15orf38, C15orf39, C15orf41, C15orf52, C16orf10, C16orf54, C17orf62, C17orf63, C17orf85, C18orf19, C19orf12, C19orf34, C19orf44, C19orf45, C19orf54, C19orf55, C19orf60, C1orf128, C1orf129, C1orf198, C1orf50, C1orf94, C20orf82, C22orf15, C22orf26, C22orf30, C2CD3, C2orf3, C2orf34, C2orf53, C2orf63, C4orf19, C5orf22, C5orf24, C6orf35, C8orf33, C8orf73, C9orf100, C9orf131, C9orf50, C9orf68, C9orf84, CCDC122, CCDC144C, CCDC146, CCDC40, CCDC71, CCDC77, CCDC96, CCM2L, CD97, CDH6, CEP120, CFAP43, COL11A2, COL9A1, CXorf22, CXorf57, DDTL, DDX60L, DDX60L, DFNB53, DHODH, DNAJB14, DQX1, ECT2L, EFCAB5, ERCC6L2, EXOC3L, FAAH2, FAM110A, FAM136A, FAM153B, FAM160A2, FAM200B, FAM47C, FAM63B, FAM86B1, FASTKD1, FDX1L, FOXRED2, GIN1, GSG1L, HERPUD2, IFITM4P, JMJD7, KCTD4, KIAA1310, KIAA1614, KIAA1797, KLHL25, LACC1, LARP4, LRRC27, LRRC31, MACROD2, PCMTD2, RABGGTA, SLC3A2, SLC52A3, SMYD4, TBC1D20, TMEM100, TTI2, ZC3H6, ZNF250, ZNF252, ZNF385B, ZNF491, ZNF493, ZNF506, ZNF517, ZNF525, ZNF529, ZNF568, ZNF611, ZNF614, ZNF616, ZNF621, ZNF624, ZNF627, ZNF630, ZNF721, ZSCAN18, ZSCAN29
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S.
Genome Res 16(1):55-65. Epub 2005 Dec 12. 2006