Genomes and Genes
Michael L Nickerson
Affiliation: National Institutes of Health
- The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymesMichael L Nickerson
Cancer and Inflammation Program, National Cancer Institute, National Institutes of Health, Frederick, Maryland 21702, USA
Hum Mutat 34:317-29. 2013..Our data suggest a role for endogenous MK-4 in maintaining cornea health and visual acuity...
- UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophyMichael L Nickerson
Cancer and Inflammation Program, National Cancer Institute, National Institutes of Health, Frederick, Maryland, USA
PLoS ONE 5:e10760. 2010..We characterized lesions in the UBIAD1 gene in new SCD families and examined protein homology, localization, and structure...
- Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndromeLaura 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...
- High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumorsCathy 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...
- Von Hippel-Lindau (VHL) inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factorsLee E Moore
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Genet 7:e1002312. 2011..A proportion of tumors from current smokers lacked VHL alterations and may represent a biologically distinct clinical entity from inactivated cases...
- Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogeneLaura 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...
- Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signalingMasaya 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...
- Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North AmericaJorge 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...
- Expression of Birt-Hogg-DubÃ© gene mRNA in normal and neoplastic human tissuesMichelle 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...
- Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumorsMichael 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...
- Patterns of aneuploidy in stage IV clear cell renal cell carcinoma revealed by comparative genomic hybridization and spectral karyotypingChristian P Pavlovich
Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genes Chromosomes Cancer 37:252-60. 2003..e., whole chromosomal gains and losses (7.8/case)] or chromosomal rearrangements (10.7/case), of which the majority were unbalanced translocations...
- 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 syndromeMichael 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....