Role of VHL gene mutation in human cancer (Q35990141)

11 August 2017

title

Role of VHL gene mutation in human cancer (English)

1 reference

11 August 2017

2

William G Kaelin

1 reference

11 August 2017

William Y Kim

1

1 reference

11 August 2017

publication date

1 December 2004

1 reference

Journal of Clinical Oncology

11 August 2017

language of work or name

English

0 references

published in

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11 August 2017

volume

22

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11 August 2017

issue

24

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11 August 2017

page(s)

4991-5004

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publication type of scholarly work

11 August 2017

review article

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The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

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Role of transforming growth factor-alpha in von Hippel--Lindau (VHL)(-/-) clear cell renal carcinoma cell proliferation: a possible mechanism coupling VHL tumor suppressor inactivation and tumorigenesis

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Up-regulation of hypoxia-inducible factors HIF-1alpha and HIF-2alpha under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function

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HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation

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Post-transcriptional regulation of vascular endothelial growth factor mRNA by the product of the VHL tumor suppressor gene

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Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

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Ubiquitination of a Novel Deubiquitinating Enzyme Requires Direct Binding to von Hippel-Lindau Tumor Suppressor Protein

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Hypoxia inducible factor activates the transforming growth factor-alpha/epidermal growth factor receptor growth stimulatory pathway in VHL(-/-) renal cell carcinoma cells

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Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation

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Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations

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Molecular mechanisms of transcription activation by HLF and HIF1alpha in response to hypoxia: their stabilization and redox signal-induced interaction with CBP/p300.

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von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease

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Tumour suppression by the human von Hippel-Lindau gene product

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The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

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Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters

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Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma

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Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth

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Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex

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Binding of the von Hippel-Lindau Tumor Suppressor Protein to Elongin B and C

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The VHL protein recruits a novel KRAB-A domain protein to repress HIF-1alpha transcriptional activity

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Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein

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von Hippel-Lindau Protein Induces Hypoxia-regulated Arrest of Tyrosine Hydroxylase Transcript Elongation in Pheochromocytoma Cells

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von Hippel-Lindau Disease

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Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma

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Über eine sehr seltene Erkrankung der Netzhaut

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The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development

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A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor.

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Germline mutations in thevhl gene in patients presenting with phaeochromocytomas

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Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype

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Regulation of hypoxia-inducible factor 1α is mediated by an O 2 -dependent degradation domain via the ubiquitin-proteasome pathway

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Identification of novel hypoxia dependent and independent target genes of the von Hippel-Lindau (VHL) tumour suppressor by mRNA differential expression profiling

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The contribution of VHL substrate binding and HIF1-alpha to the phenotype of VHL loss in renal cell carcinoma

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The von Hippel–Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal

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Alternate choice of initiation codon produces a biologically active product of the von Hippel Lindau gene with tumor suppressor activity

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Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein

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Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

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Nuclear/cytoplasmic localization of the von Hippel-Lindau tumor suppressor gene product is determined by cell density

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12 October 2022

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Molecular genetic analysis of the von Hippel-Lindau disease tumor suppressor gene in familial and sporadic cerebellar hemangioblastomas

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HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing

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von Hippel-Lindau protein binds hyperphosphorylated large subunit of RNA polymerase II through a proline hydroxylation motif and targets it for ubiquitination

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Renal Tumors in the Birt-Hogg-Dubé Syndrome

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Asparagine hydroxylation of the HIF transactivation domain a hypoxic switch

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Up-Regulation of Vascular Endothelial Growth Factor in Stromal Cells of Hemangioblastomas Is Correlated with Up-Regulation of the Transcription Factor HRF/HIF-2α

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Signal transduction in hypoxic cells: inducible nuclear translocation and recruitment of the CBP/p300 coactivator by the hypoxia-inducible factor-1alpha

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The von Hippel-Lindau tumor suppressor gene inhibits hepatocyte growth factor/scatter factor-induced invasion and branching morphogenesis in renal carcinoma cells

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Inhibition of Transcription Elongation by the VHL Tumor Suppressor Protein

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Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas

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von Hippel-Lindau disease gene deletion detected in microdissected sporadic human colon carcinoma specimens

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VHL induces renal cell differentiation and growth arrest through integration of cell-cell and cell-extracellular matrix signaling

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FIH-1: a novel protein that interacts with HIF-1α and VHL to mediate repression of HIF-1 transcriptional activity

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12 October 2022

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Activation of HIF1alpha ubiquitination by a reconstituted von Hippel-Lindau (VHL) tumor suppressor complex

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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

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Regulation of tyrosine hydroxylase promoter activity by the von Hippel-Lindau tumor suppressor protein and hypoxia-inducible transcription factors

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Molecular genetic analysis of the von Hippel-Lindau disease (VHL) tumour suppressor gene in gonadal tumours

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The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activity

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SCF and Cullin/Ring H2-based ubiquitin ligases

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Regulation of Hypoxia-Inducible mRNAs by the von Hippel-Lindau Tumor Suppressor Protein Requires Binding to Complexes Containing Elongins B/C and Cul2

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12 October 2022

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Vascular tumors in livers with targeted inactivation of the von Hippel-Lindau tumor suppressor.

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Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma

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Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxylation

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Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system

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Activation of Sp1-mediated Vascular Permeability Factor/Vascular Endothelial Growth Factor Transcription Requires Specific Interaction with Protein Kinase C ζ

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Induction of angiogenesis in a mouse model using engineered transcription factors

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ZUR FRAGE DER ANGIOMATOSIS RETINae UND IHRER HIRNKOMPLIKATIONEN

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Mutation of the Von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system

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Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein

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12 October 2022

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Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor

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Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma

1 reference

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Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis

1 reference

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The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1

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pVHL 19 is a biologically active product of the von Hippel–Lindau gene arising from internal translation initiation

1 reference

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Putative Control of Angiogenesis in Hemangioblastomas by the von Hippel-Lindau Tumor Suppressor Gene

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

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Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein

1 reference

12 October 2022

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Regulation of the hypoxia-inducible transcription factor 1alpha by the ubiquitin-proteasome pathway

1 reference

12 October 2022

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Expression of Vascular Endothelial Growth Factor in Capillary Hemangioblastoma

1 reference

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The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins

1 reference

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Activation of Hypoxia-inducible Factor-1; Definition of Regulatory Domains within the α Subunit

1 reference

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Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases

1 reference

12 October 2022

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Induction of hypervascularity without leakage or inflammation in transgenic mice overexpressing hypoxia-inducible factor-1alpha

1 reference

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The von Hippel-Lindau tumor suppressor protein mediates ubiquitination of activated atypical protein kinase C.

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Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling

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Vascular endothelial growth factor overexpression is correlated with von Hippel-Lindau tumor suppressor gene inactivation in patients with sporadic renal cell carcinoma

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12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation

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12 October 2022

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Differential Genetic Alterations in von Hippel-Lindau Syndrome-Associated and Sporadic Pheochromocytomas

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Mutation of the VHL gene is associated exclusively with the development of non-papillary renal cell carcinomas

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Expression of hypoxia-inducible factor 1? in brain tumors

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The von Hippel-Lindau Tumor Suppressor Protein Is Required for Proper Assembly of an Extracellular Fibronectin Matrix

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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Identification of a deubiquitinating enzyme subfamily as substrates of the von Hippel-Lindau tumor suppressor

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

HIF-1 and mechanisms of hypoxia sensing

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Angiogenesis is induced in a rabbit model of hindlimb ischemia by naked DNA encoding an HIF-1alpha/VP16 hybrid transcription factor

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel‐Lindau and RET genes

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Rapid and durable recovery of visual function in a patient with von hippel-lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416.

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Mutations in the VHL gene in sporadic apparently congenital polycythemia

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Hippel-Lindau syndrome and sporadic renal cell carcinomas. Pathogenesis, morphologic spectrum and molecular genetics

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Hematological study on a case with cerebellar hemangioblastoma associated with erythrocytosis, with special reference to a erythropoiesis-stimulating activity present in the fluid of the cyst of tumor

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

A role for mitochondrial enzymes in inherited neoplasia and beyond

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Direct Interaction of the β-Domain of VHL Tumor Suppressor Protein with the Regulatory Domain of Atypical PKC Isotypes

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

A conserved family of prolyl-4-hydroxylases that modify HIF

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Expression of growth factors and growth factor receptors in capillary hemangioblastoma

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Familial non-VHL non-papillary clear-cell renal cancer

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Erythropoietin, tumours and the von Hippel-Lindau gene: towards identification of mechanisms and dysfunction of oxygen sensing

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Analysis of von Hippel—Lindau mutations with comparative genomic hybridization in sporadic and hereditary hemangioblastomas: possible genetic heterogeneity

1 reference

12 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1200/JCO.2004.05.061

Identifiers

DOI

10.1200/JCO.2004.05.061

1 reference

11 August 2017

1 reference