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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE. Sanders AA, et al. Among authors: boldt k. Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z. Genome Biol. 2015. PMID: 26714646 Free PMC article.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: boldt k. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029
Pitchfork regulates primary cilia disassembly and left-right asymmetry.
Kinzel D, Boldt K, Davis EE, Burtscher I, Trümbach D, Diplas B, Attié-Bitach T, Wurst W, Katsanis N, Ueffing M, Lickert H. Kinzel D, et al. Among authors: boldt k. Dev Cell. 2010 Jul 20;19(1):66-77. doi: 10.1016/j.devcel.2010.06.005. Dev Cell. 2010. PMID: 20643351 Free PMC article.
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, Gloeckner CJ, Nishina PM, Roepman R, Ueffing M. Boldt K, et al. J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23. J Clin Invest. 2011. PMID: 21606596 Free PMC article.
152 results