Citations for
1CC2D2A, JBTS9
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D.
J Med Genet 49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. 2012
2ARL13B, CC2D2A, CEP290, GLIS2, INPP5E, INVS, NEK8, NPHP2, NPHP4, TMEM67, TTC21B, XPNPEP3
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.
J Med Genet 48(2):105-16. Epub 2010 Nov 10. 2011
3B9D1, B9D2, CC2D2A, MKS1, NPHP1, NPHP4, RPGRIP1L, TMEM67
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR.
J Cell Biol 192(6):1023-41. 2011
4CC2D2A, COACH1, COACH2, COACH3, RPGRIP1L, TMEM67
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA.
J Med Genet 47(1):8-21. Epub 2009 Jul 1. 2010
5CC2D2A, JBTS9, MKS6
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T.
Hum Mutat 30(11):1574-82.PMID: 19777577 2009
6CC2D2A, MRRP
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M.
Am J Hum Genet 82(4):1011-8. 2008
7CC2D2A, MKS6
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
Tallila J, Jakkula E, Peltonen L, Salonen R, KestilŠ M.
Am J Hum Genet 82(6):1361-7. 2008
8CC2D2A, CEP290, JBTS9
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290.
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D.
Am J Hum Genet m J Hum Genet. 2008 Oct 22. [Epub ahead of print] 2008
9AARSD1, ACSM2A, ACTL8, ADAD2, ADAM6, AGAP9, AHCTF1P, ALDH1L2, AMER1, AMN1, ANGEL2, ANKFN1, ANKHD1, ANKIB1, ANKMY2, ANKRD10, ANKRD18A, ANKRD19, ANKRD26, ANKRD27, ANKRD31, ANKRD33, ANKRD34A, ANKRD34C, ANKRD35, ANKRD50, ANKS6, ARMC5, ATAD2B, ATP5SL, ATP5Sl, BTBD11, C10orf139, C10orf31, C11orf37, C11orf39, C11orf44, C11orf55, C11orf74, C12orf27, C12orf35, C12orf40, C12orf47, C12orf50, C12orf55, C14orf105, C14orf180, C14orf181, C14orf70, C15orf28, C15orf37, C15orf53, C15orf54, C15orf56, C16orf13, C16orf59, C16orf68, C16orf81, C17orf47, C17orf53, C17orf55, C17orf56, C17orf65, C17orf66, C17orf69, C17orf72, C17orf76, C17orf77, C17orf78, C18orf15, C18orf26, C18orf33, C18orf62, C19orf46, C1orf112, C1orf125, C1orf127, C1orf131, C1orf132, C1orf62, C1orf83, C1orf92, C1orf96, C20orf152, C20orf175, C20orf200, C20orf46, C21orf125, C21orf130, C22orf37, C2orf37, C2orf54, C2orf61, C2orf67, C3orf30, C3orf41, C3orf44, C3orf56, C4orf21, C4orf30, C4orf32, C4orf35, C5orf17, C5orf30, C5orf34, C6orf103, C6orf140, C6orf147, C6orf214, C7orf40, C7orf42, C7orf52, C8orf31, C8orf34, C8orf47, C9orf106, C9orf139, C9orf66, C9orf73, C9orf97, CALML4, CBR4, CC2D2A, CCDC114, CCDC115, CCDC121, CCDC128, CCDC129, CCDC138, CCDC140, CCDC141, CCDC144B, CCDC148, CCDC43, CCDC57, CCDC63, CCDC65, CCDC69, CCDC79, CCDC83, CCDC87, CCDC93, CCDC97, CCNJ, CCNJL, CCT6AP1, CDC20B, CEP164, CEP170B, CKAP2L, CLEC4GP1, CNTD2, CNTNAP5, COA1, CROCCL1, CROCCL2, CXorf18, CXorf25, CXorf55, CXorf62, CYP4V2, DDX60, DEF8, DEPDC1B, DEPDC4, DHRS12, DIS3L, DNAAF3, DNHD1, DNHD1L, DNHL1, DTWD2, DUSP27, DZIP1L, ECHDC2, EHBP1L1, EOGT, EP400NL, FADS6, FAM108C1, FAM133A, FAM134A, FAM139A, FAM149A, FAM149B1, FAM153C, FAM173B, FAM182A, FAM21A, FAM21C, FAM45A, FAM66A, FAM66B, FAM66C, FAM66D, FAM66E, FAM71D, FAM71F1, FAM73A, FAM75C1, FAM78A, FAM87B, FAM90A1, FAM98A, FAM98B, FAM98C, FLAD1, FSD2, GAB4, GARNL3, GAS2L3, GK5, GLYATL1, GMPPA, GOLGA9P, GSTCD, H2BFM, HDX, HECTD2, HFM1, IGSF22, IGSF5, ISLR2, KANK2, KANK3, KANK4, KCTD19, KIAA0913, KIAA1324L, KIF24, KLHDC7A, KLHL26, L3MBTL4, LARP6, LBA1, LIME1, LINC00299, LOXHD1, LRRC36, LRRC37A4, MARCH9, MIB2, MOBKL1B, MOBKL2A, MOBKL2B, MOBKL2C, MORC4, MTURN, MYH15, N6AMT1, NAA30, NAG8, NDUFAF5, NKAIN3, NOXIN, NUBPL, OTOGL, OTOGL, PDZK1P1, PHF20L1, PIANP, PID1, PLCH1, POLR3D, PROX2, PRR10, RANBP6, RETREG3, RFPL4B, RIPPLY2, RITA1, SCIMP, SDE2, SETD4, SFXN4, SIRPD, SLC10A5, SLC25A29, SLC35E1, SLC35F1, SLC35F3, SLC38A10, SLC38A11, SLC38A7, SMAGP, SMG8, SMYD4, SNHG10, SNHG11, SNX30, STAG3L1, SWSAP1, TANC2, TBRG4, TDRD7, TMEM105, TMEM151B, TMEM222, TPD52L3, TRMT2B, TSGA10IP, TTC29, UAP1L1, VPS35L, WDR63, WDR90, WDTC1, ZBTB46, ZIK1, ZMAT1, ZMAT2, ZNF12, ZNF321, ZNF347, ZNF430, ZNF433, ZNF441, ZNF442, ZNF483, ZNF526, ZNF527, ZNF569, ZNF600, ZNF615, ZNF619, ZNF620, ZNF662, ZNFX1, ZYG11B, ZZZ3
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S.
Nat Genet 36(1):40-5. Epub 2003 Dec 21. 2004