Found: 30
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Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 22, p. 3135, doi. 10.1093/hmg/ddad131
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- Publication type:
- Article
Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 10, p. 2686, doi. 10.1210/clinem/dgad136
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- Publication type:
- Article
High-throughput and targeted drug screens identify pharmacological candidates against MiT-translocation renal cell carcinoma.
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- Journal of Experimental & Clinical Cancer Research (17569966), 2023, v. 42, n. 1, p. 1, doi. 10.1186/s13046-023-02667-4
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- Publication type:
- Article
A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 490, doi. 10.1002/ajmg.a.63049
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- Article
Targeting chemoresistance in Xp11.2 translocation renal cell carcinoma using a novel polyamide–chlorambucil conjugate.
- Published in:
- Cancer Science, 2022, v. 113, n. 7, p. 2352, doi. 10.1111/cas.15364
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- Publication type:
- Article
Cover, Volume 42, Issue 5.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. i, doi. 10.1002/humu.24209
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- Publication type:
- Article
Comprehensive characterization of Alu‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 520, doi. 10.1002/humu.24194
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- Article
Tobacco smoking induces metabolic reprogramming of renal cell carcinoma.
- Published in:
- 2021
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- Publication type:
- journal article
MicroRNA‐204‐5p: A novel candidate urinary biomarker of Xp11.2 translocation renal cell carcinoma.
- Published in:
- Cancer Science, 2019, v. 110, n. 6, p. 1897, doi. 10.1111/cas.14026
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- Publication type:
- Article
The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding.
- Published in:
- Nature Communications, 2016, v. 7, n. 6, p. 12037, doi. 10.1038/ncomms12037
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- Publication type:
- Article
Loss of Folliculin Disrupts Hematopoietic Stem Cell Quiescence and Homeostasis Resulting in Bone Marrow Failure.
- Published in:
- Stem Cells, 2016, v. 34, n. 4, p. 1068, doi. 10.1002/stem.2293
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- Publication type:
- Article
Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5706, doi. 10.1093/hmg/ddu286
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- Publication type:
- Article
Hereditary leiomyomatosis and renal cell carcinoma.
- Published in:
- International Journal of Nephrology & Renovascular Disease, 2014, v. 7, p. 253, doi. 10.2147/IJNRD.S42097
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- Publication type:
- Article
Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN.
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- JNCI: Journal of the National Cancer Institute, 2012, v. 104, n. 22, p. 1750, doi. 10.1093/jnci/djs418
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- Publication type:
- Article
Von Hippel-Lindau (VHL) Inactivation in Sporadic Clear Cell Renal Cancer: Associations with Germline VHL Polymorphisms and Etiologic Risk Factors.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 10, p. 1, doi. 10.1371/journal.pgen.1002312
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- Publication type:
- Article
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2011, v. 50, n. 6, p. 466, doi. 10.1002/gcc.20872
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- Publication type:
- Article
Inactivation of the FLCN Tumor Suppressor Gene Induces TFE3 Transcriptional Activity by Increasing Its Nuclear Localization.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015793
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- Publication type:
- Article
Tumor suppressor FLCN inhibits tumorigenesis of aFLCN-null renal cancer cell line and regulatesexpression of key molecules in TGF-β signaling.
- Published in:
- Molecular Cancer, 2010, v. 9, p. 160, doi. 10.1186/1476-4598-9-160
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- Publication type:
- Article
Hereditary Kidney Cancer.
- Published in:
- Cancer (0008543X), 2009, v. 115, n. 10, p. 2252, doi. 10.1002/cncr.24230
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- Publication type:
- Article
Deciphering von Hippel-Lindau (VHL/Vhl)-Associated Pancreatic Manifestations by Inactivating Vhl in Specific Pancreatic Cell Populations.
- Published in:
- PLoS ONE, 2009, v. 4, n. 4, p. 1, doi. 10.1371/journal.pone.0004897
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- Publication type:
- Article
Kidney-Targeted Birt-Hogg-Dubé Gene Inactivation in a Mouse Model: Erkl/2 and Akt-mTOR Activation, Cell Hyperproliferation, and Polycystic Kidneys.
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- JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 2, p. 140, doi. 10.1093/jnci/djm288
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- Publication type:
- Article
Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dubé Syndrome.
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- American Journal of Respiratory & Critical Care Medicine, 2007, v. 175, n. 10, p. 1044, doi. 10.1164/rccm.200610-1483OC
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- Publication type:
- Article
High Frequency of Somatic Frameshift BHD Gene Mutations in Birt-Hogg-Dubé-Associated Renal Tumors.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 12, p. 931, doi. 10.1093/jnci/dji154
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- Publication type:
- Article
The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours.
- Published in:
- Nature, 2005, v. 435, n. 7040, p. 360, doi. 10.1038/nature03595
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- Publication type:
- Article
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.
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- Modern Pathology, 2004, v. 17, n. 8, p. 998, doi. 10.1038/modpathol.3800152
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- Publication type:
- Article
The Met kinase inhibitor SU11274 exhibits a selective inhibition pattern toward different receptor mutated variants.
- Published in:
- Oncogene, 2004, v. 23, n. 31, p. 5387, doi. 10.1038/sj.onc.1207691
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- Publication type:
- Article
Searching for the hereditary causes of renal-cell carcinoma.
- Published in:
- Nature Reviews Cancer, 2004, v. 4, n. 5, p. 381, doi. 10.1038/nrc1364
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- Publication type:
- Article
A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 23, p. 3043, doi. 10.1093/hmg/ddg336
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- Publication type:
- Article
Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods.
- Published in:
- Human Mutation, 2001, v. 17, n. 3, p. 210, doi. 10.1002/humu.6
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- Publication type:
- Article
Signature-based analysis of MET proto-oncogene mutations using DHPLC.
- Published in:
- Human Mutation, 2000, v. 16, n. 1, p. 68, doi. 10.1002/1098-1004(200007)16:1<68::AID-HUMU12>3.0.CO;2-U
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- Publication type:
- Article