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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Bielas SL, et al. Among authors: gleeson jg. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668216 Free PMC article.
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. Louie CM, et al. Among authors: gleeson jg. Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17. Nat Genet. 2010. PMID: 20081859 Free PMC article.
The role of primary cilia in neuronal function.
Lee JH, Gleeson JG. Lee JH, et al. Among authors: gleeson jg. Neurobiol Dis. 2010 May;38(2):167-72. doi: 10.1016/j.nbd.2009.12.022. Epub 2010 Jan 22. Neurobiol Dis. 2010. PMID: 20097287 Free PMC article. Review.
Cystic kidney disease: the role of Wnt signaling.
Lancaster MA, Gleeson JG. Lancaster MA, et al. Among authors: gleeson jg. Trends Mol Med. 2010 Aug;16(8):349-60. doi: 10.1016/j.molmed.2010.05.004. Epub 2010 Jun 22. Trends Mol Med. 2010. PMID: 20576469 Free PMC article. Review.
Modeling human disease in humans: the ciliopathies.
Novarino G, Akizu N, Gleeson JG. Novarino G, et al. Among authors: gleeson jg. Cell. 2011 Sep 30;147(1):70-9. doi: 10.1016/j.cell.2011.09.014. Cell. 2011. PMID: 21962508 Free PMC article.
333 results