| 1 | IFT140, PKDL1
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| Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. 2022 PMID:
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| Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Harris PC.
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| Am J Hum Genet. Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. 2022
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| 2 | IFT140, RRPAS
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| Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
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| Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A.
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| Orphanet J Rare Dis. Feb 1;15(1):36. doi: 10.1186/s13023-020-1303-2. 2020
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| 3 | IFT140
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| Lineage tracing of cells expressing the ciliary gene IFT140 during bone development.
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| Chen Y, Fan Q, Zhang H, Tao D, Wang Y, Yue R, Sun Y.
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| Dev Dyn. Oct 23. doi: 10.1002/dvdy.266. Epub ahead of print 2020
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| 4 | IFT140
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| Expression of IFT140 During Bone Development
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| Zhang C, Zhang S, Sun Y.
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| J Histochem Cytochem. Oct;67(10):723-734. doi: 10.1369/0022155419859357. Epub 2019 Jun 25. 2019
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| 5 | IFT140
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| Novel IFT140 variants cause spermatogenic dysfunction in humans
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| Wang X, Sha YW, Wang WT, Cui YQ, Chen J, Yan W, Hou XT, Mei LB, Yu CC, Wang J.
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| Mol Genet Genomic Med. Sep;7(9):e920. doi: 10.1002/mgg3.920. Epub 2019 Aug 8 2019
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| 6 | IFT140
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| Essential Role of IFT140 in Promoting Dentinogenesis.
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| Li G, Liu M, Zhang S, Wan H, Zhang Q, Yue R, Yan X, Wang X, Wang Z, Sun Y.
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| J Dent Res. Apr;97(4):423-431. doi: 10.1177/0022034517741283. Epub 2017 Dec 1 2018
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| 7 | IFT140
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| Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice.
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| Zhang Y, Liu H, Li W, Zhang Z, Zhang S, Teves ME, Stevens C, Foster JA, Campbell GE, Windle JJ, Hess RA, Pazour GJ, Zhang Z.
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| Cytoskeleton (Hoboken) Feb;75(2):70-84. doi: 10.1002/cm.21427. Epub 2018 Jan 8. 2018
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| 8 | IFT140, RRPAS
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| Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
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| Oud MM, Latour BL, Bakey Z, Letteboer SJ, Lugtenberg D, Wu KM, Cornelissen EAM, Yntema HG, Schmidts M, Roepman R, Bongers EMHF.
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| Cilia Feb 23;7:1. doi: 10.1186/s13630-018-0055-2. eCollection 2018 2018
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| 9 | IFT140, RP80
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| Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.
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| Low T, Kostakis A, Balasubramanian M.
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| Ophthalmic Genet. Apr;39(2):286-287. doi: 10.1080/13816810.2017.1393827. Epub 2017 Nov 7 2018
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| 10 | IFT140, IFT43, WDR35
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| Functional exploration of the IFT-A complex in intraflagellar transport and ciliogenesis
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| Zhu B, Zhu X, Wang L, Liang Y, Feng Q, Pan J.
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| PLoS Genet. .Feb 16;13(2):e1006627. doi: 10.1371/journal.pgen.1006627. 2017
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| 11 | IFT122, IFT140, TTC21B, WDR19
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| Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors
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| Hirano T, Katoh Y, Nakayama K.
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| Mol Biol Cell. Feb 1;28(3):429-439. doi: 10.1091/mbc.E16-11-0813. Epub 2016 Dec 8. 2017
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| 12 | IFT140, RP80
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| Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
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| Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT.
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| Invest Ophthalmol Vis Sci. Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976. 2016
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| 13 | IFT140, RP80
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| Mutations in human IFT140 cause non-syndromic retinal degeneration
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| Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R.
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| Hum Genet. Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28. 2015
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| 14 | IFT140
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| Distinct functions for IFT140 and IFT20 in opsin transport.
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| Crouse JA, Lopes VS, Sanagustin JT, Keady BT, Williams DS, Pazour GJ.
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| Cytoskeleton (Hoboken). May;71(5):302-10. doi: 10.1002/cm.21173. Epub 2014 Mar 25 2014
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| 15 | IFT140, RRPAS
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| Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
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| Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C.
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| Hum Mutat. May;34(5):714-24. doi: 10.1002/humu.22294. 2013
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| 16 | IFT140, RRPAS
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| Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations.
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| Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM.
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| Am J Hum Genet 90(5):864-70. Epub 2012 Apr 12.
2012
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| 17 | CETD3, IFT122, IFT140, IFT43, TTC21B, WDR19, WDR35
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| C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
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| Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R.
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| J Med Genet 48(6):390-5. Epub 2011 Mar 4. 2011
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| 18 | IFT140, IFT22
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| A novel function for the atypical small G protein Rab-like 5 in the assembly of the trypanosome flagellum.
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| Adhiambo C, Blisnick T, Toutirais G, Delannoy E, Bastin P.
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| J Cell Sci 122(Pt 6):834-41. Epub 2009 Feb 24. 2009
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| 19 | IFT140
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| Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons.
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| Tsujikawa M, Malicki J.
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| Neuron 42(5):703-16.
2004
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| 20 | ATR16, CRAMP1L, DDX11L1, DECR2, GNG13, HAGHL, HBAP1, HBM, HN1L, HS3ST6, IFT140, IGFALS, ITFG3, JMJD8, LMF1, LUC7L, MEIOB, MRPL28, MSLNL, NARFL, POLR3K, RAB40C, RHBDL1, RPL23AP5, RPS20P2, RPS3AP2, RPUSD1, SEPX1, SPSB3, TJP1P, TMEM8, TPSB2, TPSD1, TPSG1, TPSP1, TPSP3, UNKL, WFIKKN1, ZSIG37P
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| Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
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| Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR.
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| Hum Mol Genet 10(4):339-52. 2001
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| 21 | ADAMTSL2, ARMCX2, C2CD5, CACNA2D2, CEP104, CEP68, DHX16, ERAP1, GPRIN2, HDAC5, IFT140, IQSEC2, JAKMIP2, KIAA0513, KIAA0556, KIAA0564, KIAA0586, KIF5C, LCMT2, LRRC37A, MARCHF6, MED13, NCDN, PCLO, PIP5K1C, PLCB1, PLEKHG3, PPFIA4, PPRC1, PRPF4B, ProSAPiP1, RASA4, SARM1, SMC5, ST18, TRIM2, URB1, USP15, ZCCHC14, ZNF292, ZNF451
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| Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
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| DNA Res 5(1):31-9. 1998
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