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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: merino mj. Hum Mol Genet. 2017 Jan 15;26(2):354-366. doi: 10.1093/hmg/ddw392. Hum Mol Genet. 2017. PMID: 28007907 Free PMC article.
Collecting duct carcinoma of the kidney.
Kennedy SM, Merino MJ, Linehan WM, Roberts JR, Robertson CN, Neumann RD. Kennedy SM, et al. Among authors: merino mj. Hum Pathol. 1990 Apr;21(4):449-56. doi: 10.1016/0046-8177(90)90209-n. Hum Pathol. 1990. PMID: 2318486
Hereditary papillary renal cell carcinoma.
Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, Walther MM, Lerman M, Linehan WM. Zbar B, et al. J Urol. 1994 Mar;151(3):561-6. doi: 10.1016/s0022-5347(17)35015-2. J Urol. 1994. PMID: 8308957 Review.
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. Cancer Cell. 2002 Aug;2(2):157-64. doi: 10.1016/s1535-6108(02)00104-6. Cancer Cell. 2002. PMID: 12204536 Free article.
609 results