Citations for
1SRPS10, TCTEX1D2, WDR34, WDR60
Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.
Gholkar AA, Senese S, Lo YC, Capri J, Deardorff WJ, Dharmarajan H, Contreras E, Hodara E, Whitelegge JP, Jackson PK, Torres JZ.
Cell Cycle 14(7):1116-25. doi: 10.4161/15384101.2014.985066. 2015
2SRPS3B, WDR34
WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia.
Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V.
Am J Hum Genet 93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. Epub 2013 Oct 31. 2013
3DYNLL1, SRPS3B, WDR34
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K, Duncan EL, Mitchison HM.
Am J Hum Genet 93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31. 2013
4GOLGA2, WDR34
A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2.
Asante D, Maccarthy-Morrogh L, Townley AK, Weiss MA, Katayama K, Palmer KJ, Suzuki H, Westlake CJ, Stephens DJ.
J Cell Sci 126(Pt 22):5189-97. doi: 10.1242/jcs.131664. Epub 2013 Sep 17. 2013
5NR2C2, WDR34
WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway.
Gao D, Wang R, Li B, Yang Y, Zhai Z, Chen DY.
Cell Mol Life Sci 66(15):2573-84. Epub 2009 Jun 12.PMID: 19521662 2009