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H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.
Hasumi H, Hasumi Y, Baba M, Nishi H, Furuya M, Vocke CD, Lang M, Irie N, Esumi C, Merino MJ, Kawahara T, Isono Y, Makiyama K, Warner AC, Haines DC, Wei MH, Zbar B, Hagenau H, Feigenbaum L, Kondo K, Nakaigawa N, Yao M, Metwalli AR, Marston Linehan W, Schmidt LS. Hasumi H, et al. Among authors: schmidt ls. Hum Mol Genet. 2017 Jan 15;26(2):354-366. doi: 10.1093/hmg/ddw392. Hum Mol Genet. 2017. PMID: 28007907 Free PMC article.
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.
A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.
Lingaas F, Comstock KE, Kirkness EF, Sørensen A, Aarskaug T, Hitte C, Nickerson ML, Moe L, Schmidt LS, Thomas R, Breen M, Galibert F, Zbar B, Ostrander EA. Lingaas F, et al. Among authors: schmidt ls. Hum Mol Genet. 2003 Dec 1;12(23):3043-53. doi: 10.1093/hmg/ddg336. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532326
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
187 results