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Page 1
Activation of podocyte Notch mediates early Wt1 glomerulopathy.
Asfahani RI, Tahoun MM, Miller-Hodges EV, Bellerby J, Virasami AK, Sampson RD, Moulding D, Sebire NJ, Hohenstein P, Scambler PJ, Waters AM. Asfahani RI, et al. Kidney Int. 2018 Apr;93(4):903-920. doi: 10.1016/j.kint.2017.11.014. Epub 2018 Feb 2. Kidney Int. 2018. PMID: 29398135 Free PMC article.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. Waters AM, et al. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. J Med Genet. 2015. PMID: 25564561 Free PMC article.