VHL, the story of a tumour suppressor gene.
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Nat Genet. 32: 614-621Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
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Nat Med. 1: 822-826Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein.
Proc Natl Acad Sci U S A. 93: 10595-10599The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.
Nature. 399: 271-275Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C.
Science. 269: 1444-1446Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation.
Science. 292: 468-472HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing.
Science. 292: 464-468Genetic and functional studies implicate HIF1alpha as a 14q kidney cancer suppressor gene.
Cancer Discov. 1: 222-235HIF-1alpha and HIF-2alpha differently regulate tumour development and inflammation of clear cell renal cell carcinoma in mice.
Nat Commun. 11: 4111Inhibition of hypoxia-inducible factor is sufficient for growth suppression of VHL-/- tumors.
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Cell Metab. 17: 372-385Glutaminase and poly(ADP-ribose) polymerase inhibitors suppress pyrimidine synthesis and VHL-deficient renal cancers.
J Clin Invest. 127: 1631-1645Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery.
J Urol. 161: 1475-1479The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease.
J Urol. 172: 63-65Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease.
World J Urol. 39: 2409-2415Evaluation and management of pancreatic lesions in patients with von Hippel-Lindau disease.
Nat Rev Clin Oncol. 13: 537-549Association of VHL Genotype With Pancreatic Neuroendocrine Tumor Phenotype in Patients With von Hippel-Lindau Disease.
JAMA Oncol. 4: 124-126Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.
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Proc Natl Acad Sci. 98: 3387-3392Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
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Nature. 477: 225-228High throughput synthetic lethality screen reveals a tumorigenic role of adenylate cyclase in fumarate hydratase-deficient cancer cells.
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J Med Genet. 45: 321-331Cystic lung disease in Birt-Hogg-Dube syndrome.
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BMC Pulm Med. 22: 325Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion.
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Cancer Cell. 2: 157-164Folliculin 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: 15552-15557The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1.
Mol Cell. 52: 495-505Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein.
Nat Commun. 8: 15866Structural basis for FLCN RagC GAP activation in MiT-TFE substrate-selective mTORC1 regulation.
Sci Adv. 8: eadd2926Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome.
NPJ Genom Med. 5: 40Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Pediatr Neurol. 123: 50-66Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas.
Front Neurol. 11: 972Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.
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JAMA Oncol. 4: 1228-1235
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