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Laura S. Schmidt, Ph.D.

Selected Publications

1)  Schmidt LS, Linehan WM.
Editorial comment.
Urology. 83: 675.e5, 2014.
2)  Farley MN, Schmidt LS, Mester JL, Peña-Llopis S, Pavia-Jimenez A, Christie A, Vocke CD, Ricketts CJ, Peterson J, Middelton L, Kinch L, Grishin N, Merino MJ, Metwalli AR, Xing C, Xie XJ, Dahia PL, Eng C, Linehan WM, Brugarolas J.
A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.
Mol. Cancer Res. 11: 1061-71, 2013.
3)  Schmidt LS.
Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.
Fam. Cancer. 12: 357-64, 2013.
4)  Hasumi H, Baba M, Hasumi Y, Huang Y, Oh H, Hughes RM, Klein ME, Takikita S, Nagashima K, Schmidt LS, Linehan WM.
Regulation of mitochondrial oxidative metabolism by tumor suppressor FLCN.
J. Natl. Cancer Inst. 104: 1750-64, 2012.
5)  Ricketts CJ, Shuch B, Vocke CD, Metwalli AR, Bratslavsky G, Middelton L, Yang Y, Wei MH, Pautler SE, Peterson J, Stolle CA, Zbar B, Merino MJ, Schmidt LS, Pinto PA, Srinivasan R, Pacak K, Linehan WM.
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
J. Urol. 188: 2063-71, 2012.
6)  Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG, Hughes RM, Klein ME, Oh HF, Bible P, Southon E, Tessarollo L, Schmidt LS, Linehan WM, Casellas R.
The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development.
Blood. 120: 1254-61, 2012.
7)  Benhammou JN, Vocke CD, Santani A, Schmidt LS, Baba M, Seyama K, Wu X, Korolevich S, Nathanson KL, Stolle CA, Linehan WM.
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
Genes Chromosomes Cancer. 50: 466-77, 2011.
8)  Moore LE, Nickerson ML, Brennan P, Toro JR, Jaeger E, Rinsky J, Han SS, Zaridze D, Matveev V, Janout V, Kollarova H, Bencko V, Navratilova M, Szeszenia-Dabrowska N, Mates D, Schmidt LS, Lenz P, Karami S, Linehan WM, Merino M, Chanock S, Boffetta P, Chow WH, Waldman FM, Rothman N.
Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors.
PLoS Genet. 7: e1002312, 2011.
9)  Hong SB, Oh H, Valera VA, Baba M, Schmidt LS, Linehan WM.
Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization.
PLoS ONE. 5: e15793, 2010.
10)  Linehan WM, Bratslavsky G, Pinto PA, Schmidt LS, Neckers L, Bottaro DP, Srinivasan R.
Molecular diagnosis and therapy of kidney cancer.
Annu. Rev. Med. 61: 329-43, 2010.
11)  Young LR, Vandyke R, Gulleman PM, Inoue Y, Brown KK, Schmidt LS, Linehan WM, Hajjar F, Kinder BW, Trapnell BC, Bissler JJ, Franz DN, McCormack FX.
Serum Vascular Endothelial Growth Factor-D Prospectively Distinguishes Lymphangioleiomyomatosis from Other Diseases.
Chest. 138: 674-81, 2010.
12)  Linehan WM, Srinivasan R, Schmidt LS.
The genetic basis of kidney cancer: a metabolic disease.
Nat Rev Urol. 7: 277-85, 2010.
13)  Hong SB, Oh H, Valera VA, Stull J, Ngo DT, Baba M, Merino MJ, Linehan WM, Schmidt LS.
Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling.
Mol. Cancer. 9: 160, 2010.
14)  Shen HC, Adem A, Ylaya K, Wilson A, He M, Lorang D, Hewitt SM, Pechhold K, Harlan DM, Lubensky IA, Schmidt LS, Linehan WM, Libutti SK.
Deciphering von Hippel-Lindau (VHL/Vhl)-associated pancreatic manifestations by inactivating Vhl in specific pancreatic cell populations.
PLoS ONE. 4: e4897, 2009.
15)  Linehan WM, Pinto PA, Bratslavsky G, Pfaffenroth E, Merino M, Vocke CD, Toro JR, Bottaro D, Neckers L, Schmidt LS, Srinivasan R.
Hereditary kidney cancer: unique opportunity for disease-based therapy.
Cancer. 115: 2252-61, 2009.
16)  Hasumi Y, Baba M, Ajima R, Hasumi H, Valera VA, Klein ME, Haines DC, Merino MJ, Hong SB, Yamaguchi TP, Schmidt LS, Linehan WM.
Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2.
Proc. Natl. Acad. Sci. U.S.A. 106: 18722-7, 2009.
17)  Iguchi M, Kakinuma Y, Kurabayashi A, Sato T, Shuin T, Hong SB, Schmidt LS, Furihata M.
Acute inactivation of the VHL gene contributes to protective effects of ischemic preconditioning in the mouse kidney.
Nephron Exp. Nephrol. 110: e82-90, 2008.
18)  Toro JR, Wei M, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM.
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube' syndrome: a new series of 50 families and a review of published reports.
J. Med. Genet. 45: 321-31, 2008.
19)  Hasumi H, Baba M, Hong SB, Hasumi Y, Huang Y, Yao M, Valera VA, Linehan WM, Schmidt LS.
Identification and characterization of a novel folliculin-interacting protein FNIP2.
Gene. 415: 60-7, 2008.
20)  Nickerson ML, Jaeger E, Shi Y, Durocher JA, Mahurkar S, Zaridze D, Matveev V, Janout V, Kollarova H, Bencko V, Navratilova M, Szeszenia-Dabrowska N, Mates D, Mukeria A, Holcatova I, Schmidt LS, Toro JR, Karami S, Hung R, Gerard GF, Linehan WM, Merino M, Zbar B, Boffetta P, Brennan P, Rothman N, Chow WH, Waldman FM, Moore LE.
Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors.
Clin. Cancer Res. 14: 4726-34, 2008.
21)  Baba M, Furihata M, Hong SB, Tessarollo L, Haines DC, Southon E, Patel V, Igarashi P, Alvord WG, Leighty R, Yao M, Bernardo M, Ileva L, Choyke P, Warren MB, Zbar B, Linehan WM, Schmidt LS.
Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys.
J. Natl. Cancer Inst. 100: 140-54, 2008.
22)  Zbar B, Glenn G, Merino M, Middelton L, Peterson J, Toro J, Coleman J, Pinto P, Schmidt LS, Choyke P, Linehan WM.
Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development.
J. Urol. 177: 461-5; discussion 465, 2007.
23)  Linehan WM, Pinto PA, Srinivasan R, Merino M, Choyke P, Choyke L, Coleman J, Toro J, Glenn G, Vocke C, Zbar B, Schmidt LS, Bottaro D, Neckers L.
Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics.
Clin. Cancer Res. 13: 671s-679s, 2007.
24)  Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei M, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM.
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube' syndrome.
Am. J. Respir. Crit. Care Med. 175: 1044-53, 2007.
25)  Kim CM, Vocke C, Torres-Cabala C, Yang Y, Schmidt L, Walther M, Linehan WM.
Expression of hypoxia inducible factor-1alpha and 2alpha in genetically distinct early renal cortical tumors.
J Urol. 175: 1908-14, 2006.
26)  Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, Esposito D, Gillette WK, Hopkins RF, Hartley JL, Furihata M, Oishi S, Zhen W, Burke TR, Linehan WM, Schmidt LS, Zbar B.
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.
Proc. Natl. Acad. Sci. U.S.A. 103: 15552-7, 2006.
27)  Singh SR, Zhen W, Zheng Z, Wang H, Oh SW, Liu W, Zbar B, Schmidt LS, Hou SX.
The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance.
Oncogene. 25: 5933-41, 2006.
28)  Hong SB, Furihata M, Baba M, Zbar B, Schmidt LS.
Vascular defects and liver damage by the acute inactivation of the VHL gene during mouse embryogenesis.
Lab. Invest. 86: 664-75, 2006.
29)  Pavlovich CP, Grubb RL, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM.
Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome.
J Urol. 173: 1482-6, 2005.
30)  Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM.
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome.
Am J Hum Genet. 76: 1023-33, 2005.
31)  Vocke CD, Yang Y, Pavlovich CP, Schmidt LS, Nickerson ML, Torres-Cabala CA, Merino MJ, Walther MM, Zbar B, Linehan WM.
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors.
J Natl Cancer Inst. 97: 931-5, 2005.
32)  Youngren KK, Coveney D, Peng X, Bhattacharya C, Schmidt LS, Nickerson ML, Lamb BT, Deng JM, Behringer RR, Capel B, Rubin EM, Nadeau JH, Matin A.
The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours.
Nature. 435: 360-4, 2005.
33)  Okimoto K, Sakurai J, Kobayashi T, Mitani H, Hirayama Y, Nickerson ML, Warren MB, Zbar B, Schmidt LS, Hino O.
A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer.
Proc Natl Acad Sci U S A. 101: 2023-7, 2004.
34)  Schmidt LS.
Birt-Hogg-Dube syndrome, a genodermatosis that increases risk for renal carcinoma.
Curr Mol Med. 4: 877-85, 2004.
35)  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.
Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene.
J Urol. 172: 1256-61, 2004.
36)  Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML, Ma W, Linehan WM, Zbar B, Schmidt LS.
Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues.
Mod Pathol. 17: 998-1011, 2004.
37)  Linehan WM, Vasselli J, Srinivasan R, Walther MM, Merino M, Choyke P, Vocke C, Schmidt L, Isaacs JS, Glenn G, Toro J, Zbar B, Bottaro D, Neckers L.
Genetic basis of cancer of the kidney: disease-specific approaches to therapy.
Clin Cancer Res. 10: 6282S-9S, 2004.
38)  Pavlovich CP, Schmidt LS.
Searching for the hereditary causes of renal-cell carcinoma.
Nat Rev Cancer. 4: 381-93, 2004.
39)  Berthou S, Aebersold DM, Schmidt LS, Stroka D, Heigl C, Streit B, Stalder D, Gruber G, Liang C, Howlett AR, Candinas D, Greiner RH, Lipson KE, Zimmer Y.
The Met kinase inhibitor SU11274 exhibits a selective inhibition pattern toward different receptor mutated variants.
Oncogene. 23: 5387-93, 2004.
40)  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.
A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.
Hum Mol Genet. 12: 3043-53, 2003.
41)  Ma W, Tessarollo L, Hong SB, Baba M, Southon E, Back TC, Spence S, Lobe CG, Sharma N, Maher GW, Pack S, Vortmeyer AO, Guo C, Zbar B, Schmidt LS.
Hepatic vascular tumors, angiectasis in multiple organs, and impaired spermatogenesis in mice with conditional inactivation of the VHL gene.
Cancer Res. 63: 5320-8, 2003.
42)  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.
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
Am J Hum Genet. 73: 95-106, 2003.
43)  Pavlovich CP, Schmidt LS, Phillips JL.
The genetic basis of renal cell carcinoma.
Urol Clin North Am. 30: 437-54, vii, 2003.
44)  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.
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-Dube syndrome.
Cancer Cell. 2: 157-64, 2002.
45)  Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, Walther M, Choyke P, Weirich G, Hewitt SM, Duray P, Gabril F, Greenberg C, Merino MJ, Toro J, Linehan WM.
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome.
Cancer Epidemiol Biomarkers Prev. 11: 393-400, 2002.
46)  Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM, Zbar B.
Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.
Am J Hum Genet. 69: 876-82, 2001.
47)  Gruys ME, Back TC, Subleski J, Wiltrout TA, Lee JK, Schmidt L, Watanabe M, Stanyon R, Ward JM, Wigginton JM, Wiltrout RH.
Induction of transplantable mouse renal cell cancers by streptozotocin: in vivo growth, metastases, and angiogenic phenotype.
Cancer Res. 61: 6255-63, 2001.
48)  Nickerson ML, Warren MB, Zbar B, Schmidt LS.
Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods.
Hum Mutat. 17: 210-9, 2001.
49)  Miller M, Ginalski K, Lesyng B, Nakaigawa N, Schmidt L, Zbar B.
Structural basis of oncogenic activation caused by point mutations in the kinase domain of the MET proto-oncogene: modeling studies.
Proteins. 44: 32-43, 2001.
50)  Lee JH, Han SU, Cho H, Jennings B, Gerrard B, Dean M, Schmidt L, Zbar B, Vande Woude GF.
A novel germ line juxtamembrane Met mutation in human gastric cancer.
Oncogene. 19: 4947-53, 2000.
51)  Nickerson ML, Weirich G, Zbar B, Schmidt LS.
Signature-based analysis of MET proto-oncogene mutations using DHPLC.
Hum Mutat. 16: 68-76, 2000.
52)  Nakaigawa N, Weirich G, Schmidt L, Zbar B.
Tumorigenesis mediated by MET mutant M1268T is inhibited by dominant-negative Src.
Oncogene. 19: 2996-3002, 2000.
53)  Lubensky IA, Schmidt L, Zhuang Z, Weirich G, Pack S, Zambrano N, Walther MM, Choyke P, Linehan WM, Zbar B.
Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype.
Am J Pathol. 155: 517-26, 1999.
54)  Schmidt L, Lubensky I, Linehan WM, Zbar B.
Hereditary papillary renal carcinoma: pathology and pathogenesis.
Contrib Nephrol. 128: 11-27, 1999.
55)  Schmidt L, Junker K, Nakaigawa N, Kinjerski T, Weirich G, Miller M, Lubensky I, Neumann HP, Brauch H, Decker J, Vocke C, Brown JA, Jenkins R, Richard S, Bergerheim U, Gerrard B, Dean M, Linehan WM, Zbar B.
Novel mutations of the MET proto-oncogene in papillary renal carcinomas.
Oncogene. 18: 2343-50, 1999.
56)  Park WS, Dong SM, Kim SY, Na EY, Shin MS, Pi JH, Kim BJ, Bae JH, Hong YK, Lee KS, Lee SH, Yoo NJ, Jang JJ, Pack S, Zhuang Z, Schmidt L, Zbar B, Lee JY.
Somatic mutations in the kinase domain of the Met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas.
Cancer Res. 59: 307-10, 1999.
57)  Weirich G, Sandherr M, Fellbaum C, Richter T, Schmidt L, Kinjerski T, Dietzfelbinger H, Rastetter J, Höfler H.
Molecular evidence of bone marrow involvement in advanced case ot Tgammadelta lymphoma with secondary myelofibrosis.
Hum Pathol. 29: 761-5, 1998.
58)  Zhuang Z, Park WS, Pack S, Schmidt L, Vortmeyer AO, Pak E, Pham T, Weil RJ, Candidus S, Lubensky IA, Linehan WM, Zbar B, Weirich G.
Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas.
Nat Genet. 20: 66-9, 1998.
59)  Schmidt L, Junker K, Weirich G, Glenn G, Choyke P, Lubensky I, Zhuang Z, Jeffers M, Vande Woude G, Neumann H, Walther M, Linehan WM, Zbar B.
Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene.
Cancer Res. 58: 1719-22, 1998.
60)  Jeffers M, Schmidt L, Nakaigawa N, Webb CP, Weirich G, Kishida T, Zbar B, Vande Woude GF.
Activating mutations for the met tyrosine kinase receptor in human cancer.
Proc Natl Acad Sci U S A. 94: 11445-50, 1997.
61)  Duh FM, Scherer SW, Tsui LC, Lerman MI, Zbar B, Schmidt L.
Gene structure of the human MET proto-oncogene.
Oncogene. 15: 1583-6, 1997.
62)  Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, Zamarron A, Bernues M, Richard S, Lips CJ, Walther MM, Tsui LC, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, Lerman MI, Linehan WM, Zbar B.
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.
Nat Genet. 16: 68-73, 1997.
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This page was last updated on 4/11/2014.