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Page 1
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Among authors: shah jv. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis.
Husson H, Moreno S, Smith LA, Smith MM, Russo RJ, Pitstick R, Sergeev M, Ledbetter SR, Bukanov NO, Lane M, Zhang K, Billot K, Carlson G, Shah J, Meijer L, Beier DR, Ibraghimov-Beskrovnaya O. Husson H, et al. Hum Mol Genet. 2016 Jun 1;25(11):2245-2255. doi: 10.1093/hmg/ddw093. Epub 2016 Apr 5. Hum Mol Genet. 2016. PMID: 27053712 Free PMC article.
Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.
Manning DK, Sergeev M, van Heesbeen RG, Wong MD, Oh JH, Liu Y, Henkelman RM, Drummond I, Shah JV, Beier DR. Manning DK, et al. Among authors: shah jv. J Am Soc Nephrol. 2013 Jan;24(1):100-12. doi: 10.1681/ASN.2012050490. J Am Soc Nephrol. 2013. PMID: 23274954 Free PMC article.
Imaging intraflagellar transport in mammalian primary cilia.
Besschetnova TY, Roy B, Shah JV. Besschetnova TY, et al. Among authors: shah jv. Methods Cell Biol. 2009;93:331-46. doi: 10.1016/S0091-679X(08)93016-8. Epub 2009 Dec 4. Methods Cell Biol. 2009. PMID: 20409824 Free PMC article.
108 results