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Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Nickerson ML, et al. Among authors: schmidt ls. Cancer Cell. 2002 Aug;2(2):157-64. doi: 10.1016/s1535-6108(02)00104-6. Cancer Cell. 2002. PMID: 12204536 Free article.
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B. Toro JR, et al. Among authors: schmidt ls. Am J Hum Genet. 2003 Jul;73(1):95-106. doi: 10.1086/376435. Epub 2003 May 22. Am J Hum Genet. 2003. PMID: 12772087 Free PMC article.
Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene.
Schmidt LS, Nickerson ML, Angeloni D, Glenn GM, Walther MM, Albert PS, Warren MB, Choyke PL, Torres-Cabala CA, Merino MJ, Brunet J, Bérez V, Borràs J, Sesia G, Middelton L, Phillips JL, Stolle C, Zbar B, Pautler SE, Linehan WM. Schmidt LS, et al. J Urol. 2004 Oct;172(4 Pt 1):1256-61. doi: 10.1097/01.ju.0000139583.63354.e0. J Urol. 2004. PMID: 15371818
Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome.
Pavlovich CP, Grubb RL 3rd, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM. Pavlovich CP, et al. Among authors: schmidt ls. J Urol. 2005 May;173(5):1482-6. doi: 10.1097/01.ju.0000154629.45832.30. J Urol. 2005. PMID: 15821464
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.
Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF 3rd, Hartley JL, Furihata M, Oishi S, Zhen W, Burke TR Jr, Linehan WM, Schmidt LS, Zbar B. Baba M, et al. Among authors: schmidt ls. Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15552-7. doi: 10.1073/pnas.0603781103. Epub 2006 Oct 6. Proc Natl Acad Sci U S A. 2006. PMID: 17028174 Free PMC article.
196 results