Citations for
1C2CD3, DDX59, IFT57, INTU, OFD1, OFD14, OFD16, OFD5, TMEM107
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C.
J Med Genet 54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. Review. 2017
2JBTS29, TMEM107
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE.
Nat Cell Biol 18(1):122-31. doi: 10.1038/ncb3273. Epub 2015 Nov 23. 2016
3OFD16, TMEM107
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
Shylo NA, Christopher KJ, Iglesias A, Daluiski A, Weatherbee SD.
Hum Mutat 37(2):155-9. doi: 10.1002/humu.22925. Epub 2015 Nov 23. 2016
4MKS13, TMEM107
Identification of a novel MKS locus defined by TMEM107 mutation.
Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS.
Hum Mol Genet 24(18):5211-8. doi: 10.1093/hmg/ddv242. Epub 2015 Jun 29. 2015
5GLI2, GLI3, TMEM107
Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.
Christopher KJ, Wang B, Kong Y, Weatherbee SD.
Dev Biol 368(2):382-92. doi: 10.1016/j.ydbio.2012.06.008. Epub 2012 Jun 12. 2012
6ABHD12, ABHD12B, ABTB2, ADCK4, AGBL3, AMMECR1L, ANAPC15, ANKMY1, ANKRD16, ANKRD22, ANKRD29, ANKRD36, ANKRD40, ANKRD43, ANKRD44, APOPT1, ARHGAP30, ARL16, ARL17, ARL17P1, ARMC1, ATAD1, BRD9, C10orf126, C10orf132, C10orf57, C10orf58, C10orf84, C10orf85, C10orf88, C10orf90, C10orf91, C10orf92, C10orf93, C10orf95, C11orf10, C11orf36, C11orf41, C11orf42, C11orf45, C11orf46, C11orf52, C11orf53, C11orf57, C11orf58, C11orf61, C11orf63, C11orf64, C11orf66, C11orf71, C11orf72, C11orf76, C12orf23, C12orf26, C12orf28, C12orf32, C12orf33, C12orf34, C12orf36, C12orf45, C12orf48, C12orf54, C12orf60, C13orf16, C13orf26, C13orf27, C13orf28, C13orf29, C13orf30, C13orf33, C14orf109, C14orf126, C14orf128, C14orf138, C14orf148, C14orf152, C14orf177, C14orf178, C15orf26, C15orf32, C15orf33, C15orf34, C15orf40, C15orf43, C16orf58, C16orf61, C16orf74, C16orf78, C17orf44, C17orf50, C17orf54, C17orf57, C17orf58, C18orf16, C18orf18, C18orf22, C19orf18, C19orf22, C19orf23, C19orf28, C19orf30, C19orf36, C19orf48, C1orf106, C1orf109, C1orf57, C20orf103, C20orf106, C20orf108, C20orf112, C20orf144, C20orf149, C20orf165, C20orf166, C20orf194, C20orf197, C20orf39, C20orf62, C20orf79, C21orf122, C21orf128, C22orf13, C22orf27, C22orf36, C2orf24, C2orf48, C3orf14, C3orf17, C3orf18, C3orf22, C3orf24, C3orf25, C3orf26, C3orf31, C3orf32, C3orf33, C3orf36, C3orf37, C3orf38, C3orf45, C3orf46, C3orf54, C3orf58, C3orf62, C4orf36, C5orf23, C7orf38, C7orf45, C8orf44, C8orf45, C8orf46, C8orf74, C9orf116, C9orf70, CC2D2B, CCDC101, CCDC102A, CCDC103, CCDC117, CCDC124, CCDC147, CCDC37, CCDC38, CCDC46, CCDC48, CCDC58, CCDC58P1, CCDC68, CCDC70, CCDC74B, CCDC8, CCDC84, CCDC99, CFAP300, CHCHD5, CLDND2, COX14, CXorf21, CXorf38, CXorf42, DDRGK1, DEM1, DEXI, DNAJB8, DNAJC18, DNAJC5G, DPY19L1, DPY19L3, DPY19L4, DUS1L, DUS3L, EFCAB1, EFCAB2, EFCAB3, EFCAB4B, EFHA2, EFHB, ELP6, EMC3, EMC7, EPHX4, FAM100B, FAM106A, FAM162B, FAM168A, FAM81A, FAM81B, FOPNL, HEATR3, HEATR4, HSFX2, IFT43, IL34, KANSL1, KLHL29, KLHL30, KLHL30, KLHL36, KNSTRN, LAMTOR1, LRRC20, LRRC24, LRRC34, MALSU1, MARCH9, MCU, MT1P3, NACC2, NCRNA00175, NJMUR1, NJMUR1, NKAPL, ODF3L2, OTUD7A, PID1, POMGNT2, PRIMPOL, PRR11, PRR12, RWDD2A, TANGO2, THOC6, TIMM29, TMEM101, TMEM106A, TMEM106C, TMEM107, TMEM108, TMEM109, TMEM110, TMEM116, TMEM217, TMEM229B, TMEM260, TRIM65, TTC17, TTC6, TTPAL, TUBB6, WDR72, WDR85, ZBTB45, ZBTB5, ZBTB9, ZNF385B, ZNF439, ZNF440, ZNF454, ZNF485, ZNF486, ZNF497, ZNF509, ZNF519, ZNF524, ZNF613, ZNF625, ZNF643, ZNRF3, ZSCAN1, ZSCAN23, ZSCAN5A, ZSWIM1, ZSWIM3
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J; MGC Project Team.
Genome Res 14(10B):2121-7. Erratum in: Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan]. 2004