L S Schmidt

Summary

Affiliation: National Cancer Institute
Country: USA

Publications

  1. pmc Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
    L S Schmidt
    Intramural Research Support Program, SAIC, National Cancer Institute Frederick, Frederick, MD, 21702, USA
    Am J Hum Genet 69:876-82. 2001
  2. ncbi request reprint Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene
    Laura S Schmidt
    Basic Research Program, SAIC Frederick, Inc, Frederick, Maryland, USA
    J Urol 172:1256-61. 2004
  3. ncbi request reprint Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods
    M L Nickerson
    Laboratory of Immunobiology, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, Maryland, USA
    Hum Mutat 17:210-9. 2001
  4. ncbi request reprint 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
    S R Singh
    Mouse Cancer Genetics Program, National Institutes of Health, National Cancer Institute at Frederick, Frederick, MD 21702, USA
    Oncogene 25:5933-41. 2006
  5. ncbi request reprint High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors
    Cathy D Vocke
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
    J Natl Cancer Inst 97:931-5. 2005
  6. ncbi request reprint Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development
    Berton Zbar
    Urologic Oncology Branch, National Cancer Institute, Bethesda, Maryland 20892 1107, USA
    J Urol 177:461-5; discussion 465. 2007
  7. pmc Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome
    Laura S Schmidt
    Basic Research Program, Science Applications International Corporation Frederick Inc, Frederick, MD, USA
    Am J Hum Genet 76:1023-33. 2005
  8. ncbi request reprint Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma
    Laura S Schmidt
    Basic Research Program, SAIC Frederick, Inc, Laboratory of Immunobiology, National Cancer Institute Frederick, Frederick, MD 21702, USA
    Curr Mol Med 4:877-85. 2004
  9. ncbi request reprint Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues
    Michelle B Warren
    Laboratory of Immunobiology, Center for Cancer Research, NCI Frederick, Frederick, MD, USA
    Mod Pathol 17:998-1011. 2004
  10. pmc Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome
    Jorge R Toro
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892 7231, USA
    Am J Respir Crit Care Med 175:1044-53. 2007

Collaborators

Detail Information

Publications24

  1. pmc Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
    L S Schmidt
    Intramural Research Support Program, SAIC, National Cancer Institute Frederick, Frederick, MD, 21702, USA
    Am J Hum Genet 69:876-82. 2001
    ..Identification of the gene for BHD may reveal a new genetic locus responsible for renal neoplasia and for lung and hair-follicle developmental defects...
  2. ncbi request reprint Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene
    Laura S Schmidt
    Basic Research Program, SAIC Frederick, Inc, Frederick, Maryland, USA
    J Urol 172:1256-61. 2004
    ..In the current study we evaluated the clinical phenotype and germline MET mutation of 3 new HPRC families. We describe the early onset clinical features of HPRC...
  3. ncbi request reprint Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods
    M L Nickerson
    Laboratory of Immunobiology, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, Maryland, USA
    Hum Mutat 17:210-9. 2001
    ..Hum Mutat 17:210-219, 2001. Published 2001 Wiley-Liss, Inc...
  4. ncbi request reprint 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
    S R Singh
    Mouse Cancer Genetics Program, National Institutes of Health, National Cancer Institute at Frederick, Frederick, MD 21702, USA
    Oncogene 25:5933-41. 2006
    ..These findings suggest that the BHD protein may regulate tumorigenesis through modulating stem cells in human...
  5. ncbi request reprint High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors
    Cathy D Vocke
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
    J Natl Cancer Inst 97:931-5. 2005
    ..These results support a role for BHD as a tumor suppressor gene that predisposes to the development of renal tumors when both copies are inactivated...
  6. ncbi request reprint Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development
    Berton Zbar
    Urologic Oncology Branch, National Cancer Institute, Bethesda, Maryland 20892 1107, USA
    J Urol 177:461-5; discussion 465. 2007
    ..We also determined the risk of renal carcinoma in first-degree relatives of affected family members...
  7. pmc Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome
    Laura S Schmidt
    Basic Research Program, Science Applications International Corporation Frederick Inc, Frederick, MD, USA
    Am J Hum Genet 76:1023-33. 2005
    ..This study expands the BHD-mutation spectrum and evaluates genotype-phenotype correlations among families with BHD...
  8. ncbi request reprint Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma
    Laura S Schmidt
    Basic Research Program, SAIC Frederick, Inc, Laboratory of Immunobiology, National Cancer Institute Frederick, Frederick, MD 21702, USA
    Curr Mol Med 4:877-85. 2004
    ....
  9. ncbi request reprint Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues
    Michelle B Warren
    Laboratory of Immunobiology, Center for Cancer Research, NCI Frederick, Frederick, MD, USA
    Mod Pathol 17:998-1011. 2004
    ..These results indicate a wide expression pattern for BHD mRNA in many tissues, including skin, lung and kidney, which are involved in the BHD phenotype, and support a tumor suppressor role for BHD in renal cancer...
  10. pmc Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome
    Jorge R Toro
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892 7231, USA
    Am J Respir Crit Care Med 175:1044-53. 2007
    ..Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax...
  11. pmc A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
    Kazuo Okimoto
    Department of Experimental Pathology, Cancer Institute, Japanese Foundation for Cancer Research, 1 37 1 Kami Ikebukuro, Toshima ku, Tokyo 170 8455, Japan
    Proc Natl Acad Sci U S A 101:2023-7. 2004
    ..The Nihon rat may therefore provide insights into a tumor-suppressor gene that is related to renal carcinogenesis and an animal model of human BHD syndrome...
  12. ncbi request reprint A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog
    Frode Lingaas
    Norwegian School of Veterinary Science, Oslo
    Hum Mol Genet 12:3043-53. 2003
    ..Strong evidence is provided that the RCND mutation may have a homozygous lethal effect (P<0.01)...
  13. pmc Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys
    Masaya Baba
    Urologic Oncology Branch, National Cancer Institute Frederick, Frederick, MD 21702, USA
    J Natl Cancer Inst 100:140-54. 2008
    ..BHD encodes folliculin, a protein that may interact with the energy- and nutrient-sensing 5'-AMP-activated protein kinase-mammalian target of rapamycin (AMPK-mTOR) signaling pathways...
  14. pmc Identification and characterization of a novel folliculin-interacting protein FNIP2
    Hisashi Hasumi
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20894, United States
    Gene 415:60-7. 2008
    ....
  15. pmc Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America
    Jorge R Toro
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Executive Plaza South, Rockville, MD 20892, USA
    Am J Hum Genet 73:95-106. 2003
    ..HLRCC is associated with clinically significant uterine fibroids and aggressive renal tumors. The present study also expands the histologic spectrum of renal tumors and FH mutations associated with HLRCC...
  16. ncbi request reprint 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
    Michael L Nickerson
    Laboratory of Immunobiology, Center for Cancer Research, SAIC Frederick, Inc, National Center for Cancer Research, Frederick, MD 21702, USA
    Cancer Cell 2:157-64. 2002
    ....
  17. pmc Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
    Masaya Baba
    Laboratories of Immunobiology, Center for Cancer Research, National Cancer Institute Frederick, Frederick, MD 21702, USA
    Proc Natl Acad Sci U S A 103:15552-7. 2006
    ..Our data suggest that FLCN, mutated in Birt-Hogg-Dubé syndrome, and its interacting partner FNIP1 may be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways...
  18. ncbi request reprint Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics
    W Marston Linehan
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
    Clin Cancer Res 13:671s-679s. 2007
    ..These Mendelian single-gene syndromes provide a unique opportunity to evaluate the effectiveness of agents that target the VHL, c-Met, BHD, and fumarate hydratase pathways...
  19. pmc The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours
    Kirsten K Youngren
    Department of Genetics and
    Nature 435:360-4. 2005
    ..TGCT development in the 129-Ter mouse strain models paediatric TGCT in humans. This work will have important implications for our understanding of the genetic control of TGCT pathogenesis and PGC biology...
  20. ncbi request reprint Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome
    Christian P Pavlovich
    Urologic Oncology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Basic Research Program, SAIC Frederick, Inc, Frederick, Maryland, USA
    J Urol 173:1482-6. 2005
    ..Herein we describe the evaluation and management of renal tumors in Birt-Hogg-Dubé (BHD), an autosomal dominant disorder predisposing to cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal tumors...
  21. ncbi request reprint Searching for the hereditary causes of renal-cell carcinoma
    Christian P Pavlovich
    Johns Hopkins Bayview Medical Center, Brady Urological Institute, A 345, 4940 Eastern Ave, Baltimore, Maryland 21224, USA
    Nat Rev Cancer 4:381-93. 2004
  22. ncbi request reprint Hepatic vascular tumors, angiectasis in multiple organs, and impaired spermatogenesis in mice with conditional inactivation of the VHL gene
    Wenbin Ma
    Laboratory of Immunobiology, Center for Cancer Research, Science Applications International Corporation Frederick, Inc, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Cancer Res 63:5320-8. 2003
    ..This VHL conditional knockout mouse model will provide an in vivo system for studying the functional requirement of the VHL gene in reproductive biology...
  23. ncbi request reprint The genetic basis of renal cell carcinoma
    Christian P Pavlovich
    James Buchanan Brady Urological Institute, A 345 Johns Hopkins Bayview Medical Center, 4940 Eastern Avenue, Baltimore, MD 21224, USA
    Urol Clin North Am 30:437-54, vii. 2003
    ..Consideration of these syndromes is important for proper treatment when one encounters patients with multiple renal tumors, tumors at an early age of onset, or patients with a positive family history of renal cell carcinoma...
  24. pmc Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors
    Michael L Nickerson
    Transgenomic, Gaithersburg, Maryland, USA
    Clin Cancer Res 14:4726-34. 2008
    ..Identify relationships between the prevalence of VHL gene alterations and alteration subtypes with patient and tumor characteristics...