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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Jinks RN, et al. Among authors: fogo ab. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. Brain. 2015. PMID: 26070982 Free PMC article.
Focal segmental glomerulosclerosis.
Ichikawa I, Fogo A. Ichikawa I, et al. Pediatr Nephrol. 1996 Jun;10(3):374-91. doi: 10.1007/BF00866790. Pediatr Nephrol. 1996. PMID: 8792409 Review.
Proteomic patterns and prediction of glomerulosclerosis and its mechanisms.
Xu BJ, Shyr Y, Liang X, Ma LJ, Donnert EM, Roberts JD, Zhang X, Kon V, Brown NJ, Caprioli RM, Fogo AB. Xu BJ, et al. Among authors: fogo ab. J Am Soc Nephrol. 2005 Oct;16(10):2967-75. doi: 10.1681/ASN.2005030262. Epub 2005 Aug 3. J Am Soc Nephrol. 2005. PMID: 16079267
Mechanisms of Scarring in Focal Segmental Glomerulosclerosis.
Zhong J, Whitman JB, Yang HC, Fogo AB. Zhong J, et al. Among authors: fogo ab. J Histochem Cytochem. 2019 Sep;67(9):623-632. doi: 10.1369/0022155419850170. Epub 2019 May 22. J Histochem Cytochem. 2019. PMID: 31116068 Free PMC article. Review.
575 results