Citations for
1CETD, IFT122
A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report.
Yang Q, Zhang Q, Chen F, Yi S, Li M, Yi S, Xu X, Luo J.
Exp Ther Med. Apr;21(4):311. doi: 10.3892/etm.2021.9742. Epub 2021 Feb 1. 2021
2IFT122, IFTAP, TTC21B
C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization
Takahara M, Kunii M, Nakamura K, Harada A, Hirano T, Katoh Y, Nakayama K.
J Biochem. Mar 1;165(3):257-267. doi: 10.1093/jb/mvy100. 2019
3CETD, IFT122
Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis. 2018 PMID:
Takahara M, Katoh Y, Nakamura K, Hirano T, Sugawa M, Tsurumi Y, Nakayama K.
Hum Mol Genet. Feb 1;27(3):516-528. doi: 10.1093/hmg/ddx421. 2018
4IFT122, SRTD12
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
Silveira KC, Moreno CA, Cavalcanti DP.
Am J Med Genet A. May;173(5):1186-1189. doi: 10.1002/ajmg.a.38157. Epub 2017 Mar 28. 2017
5IFT122, IFT140, TTC21B, WDR19
Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors
Hirano T, Katoh Y, Nakayama K.
Mol Biol Cell. Feb 1;28(3):429-439. doi: 10.1091/mbc.E16-11-0813. Epub 2016 Dec 8. 2017
6IFT122
Loss of ift122, a Retrograde Intraflagellar Transport (IFT) Complex Component, Leads to Slow, Progressive Photoreceptor Degeneration Due to Inefficient Opsin Transport.
Boubakri M, Chaya T, Hirata H, Kajimura N, Kuwahara R, Ueno A, Malicki J, Furukawa T, Omori Y.
J Biol Chem. Nov 18;291(47):24465-24474. doi: 10.1074/jbc.M116.738658. Epub 2016 Sep 28. 2016
7CETD3, IFT122, IFT140, IFT43, TTC21B, WDR19, WDR35
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
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.
J Med Genet 48(6):390-5. Epub 2011 Mar 4. 2011
8IFT122
Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components.
Qin J, Lin Y, Norman RX, Ko HW, Eggenschwiler JT.
Proc Natl Acad Sci U S A 108(4):1456-61. Epub 2011 Jan 5. 2011
9DYNC2H1, IFT122, IFT172
Complex interactions between genes controlling trafficking in primary cilia.
Ocbina PJ, Eggenschwiler JT, Moskowitz I, Anderson KV.
Nat Genet 43(6):547-53. Epub 2011 May 8. 2011
10IFT122, IFT22
The RABL5 homolog IFT22 regulates the cellular pool size and the amount of IFT particles partitioned to the flagellar compartment in Chlamydomonas reinhardtii.
Silva DA, Huang X, Behal RH, Cole DG, Qin H.
Cytoskeleton (Hoboken) ytoskeleton (Hoboken). 2011 Nov 10. doi: 10.1002/cm.20546. [Epub ahead of print] 2011
11CETD, IFT122
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW.
Am J Hum Genet 86(6):949-56. Epub 2010 May 20.PMID: 20493458 2010
12IFT122
Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4.
Cortellino S, Wang C, Wang B, Bassi MR, Caretti E, Champeval D, Calmont A, Jarnik M, Burch J, Zaret KS, Larue L, Bellacosa A.
Dev Biol 325(1):225-37. Epub 2008 Oct 29. 2009
13IFT122, IFT22
Functional genomics of intraflagellar transport-associated proteins in C. elegans.
Inglis PN, Blacque OE, Leroux MR.
Methods Cell Biol 93:267-304. Epub 2009 Dec 4. 2009
14IFT122
Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.
Gross C, De Baere E, Lo A, Chang W, Messiaen L.
DNA Cell Biol 20(1):41-52. 2001