Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Von Hippel-Lindau Tumorsuppressor

Da es sich um eine Tumorsuppressorgen handelt sind Mutationen des VHL-Gens für verschiedene benigne und maligne Tumoren verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Phäochromozytom
GDNF
KIF1B
MAX
RET
SDHB
SDHD
TMEM127
VHL
Familiäre Erythrozytose 2
VHL

Referenzen:

1.

Fearon ER et al. (1997) Human cancer syndromes: clues to the origin and nature of cancer.

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2.

Neumann HP et. al. (2002) Germ-line mutations in nonsyndromic pheochromocytoma.

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3.

Gemmill RM et al. (2002) The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.

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4.

Maxwell PH et al. (1999) The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.

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5.

Vasserman NN et al. (1999) Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.

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6.

Gallou C et al. (1999) Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

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7.

Bradley JF et al. (1999) Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

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8.

Kanno H et al. (2000) Role of the von Hippel-Lindau tumor suppressor protein during neuronal differentiation.

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9.

Bender BU et al. (2000) Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas.

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10.

Haase VH et al. (2001) Vascular tumors in livers with targeted inactivation of the von Hippel-Lindau tumor suppressor.

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11.

Jaakkola P et al. (2001) Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation.

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12.

Ivan M et al. (2001) HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing.

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13.

Hoffman MA et al. (2001) von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

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14.

Clifford SC et al. (2001) Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

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15.

Bender BU et al. (2001) VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.

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16.

Epstein AC et al. (2001) C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation.

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17.

Mahon PC et al. (2001) FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity.

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18.

Allen RC et al. (2001) Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.

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19.

Wiesener MS et al. (2002) Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.

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20.

Richard S et al. (2002) Paradoxical secondary polycythemia in von Hippel-Lindau patients treated with anti-vascular endothelial growth factor receptor therapy.

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21.

Min JH et al. (2002) Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling.

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22.

Hon WC et al. (2002) Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.

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23.

Zatyka M et al. (2002) Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.

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24.

Zatyka M et al. (2002) Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter.

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25.

Yoshida M et al. (2002) Somatic von Hippel-Lindau disease gene mutation in clear-cell renal carcinomas associated with end-stage renal disease/acquired cystic disease of the kidney.

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26.

Pastore YD et al. (2003) Mutations in the VHL gene in sporadic apparently congenital polycythemia.

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27.

Weirich G et al. (2002) VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.

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28.

Ang SO et al. (2002) Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

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29.

Hergovich A et al. (2003) Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.

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30.

Percy MJ et al. (2003) Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.

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31.

Pastore Y et al. (2003) Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

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32.

Staller P et al. (2003) Chemokine receptor CXCR4 downregulated by von Hippel-Lindau tumour suppressor pVHL.

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33.

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34.

Corn PG et al. (2003) Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein.

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35.

Liu E et al. (2004) The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

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36.

Maranchie JK et al. (2004) Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

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37.

Gordeuk VR et al. (2004) Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

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38.

Wait SD et al. (2004) Somatic mutations in VHL germline deletion kindred correlate with mild phenotype.

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39.

Gallou C et al. (2004) Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

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40.

Cario H et al. (2005) Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

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41.

Perrotta S et al. (2006) Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

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42.

Gläsker S et al. (2006) Second hit deletion size in von Hippel-Lindau disease.

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43.

Abbott MA et al. (2006) The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

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44.

Roe JS et al. (2006) p53 stabilization and transactivation by a von Hippel-Lindau protein.

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45.

Neumann HP et al. (1991) Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus.

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46.

Ding M et al. (2006) Loss of the tumor suppressor Vhlh leads to upregulation of Cxcr4 and rapidly progressive glomerulonephritis in mice.

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47.

Ong KR et al. (2007) Genotype-phenotype correlations in von Hippel-Lindau disease.

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48.

Wang Y et al. (2007) The hypoxia-inducible factor alpha pathway couples angiogenesis to osteogenesis during skeletal development.

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49.

Lolkema MP et al. (2008) Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor.

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50.

Yang H et al. (2007) pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2.

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51.

Hickey MM et al. (2007) von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

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52.

Zehetner J et al. (2008) PVHL is a regulator of glucose metabolism and insulin secretion in pancreatic beta cells.

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53.

Wang Y et al. (2009) Regulation of endocytosis via the oxygen-sensing pathway.

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54.

Lee CM et al. (2009) VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.

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55.

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56.

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57.

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58.

Russell RC et al. (2011) Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.

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59.

Maher ER et al. (1990) Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.

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60.

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61.

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62.

Duan DR et al. (1995) Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations.

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63.

Duan DR et al. (1995) Inhibition of transcription elongation by the VHL tumor suppressor protein.

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64.

Kibel A et al. (1995) Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C.

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65.

Chen F et al. (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

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66.

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67.

Kuzmin I et al. (1995) Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene.

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68.

Herman JG et al. (1994) Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma.

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69.

Crossey PA et al. (1994) Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

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70.

Loeb DB et al. (1994) A novel mutation in the von Hippel-Lindau gene.

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71.

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72.

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73.

Crossey PA et al. (1994) Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours.

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74.

Rubenstein JL et al. (1994) von Hippel-Lindau and the genetics of astrocytoma.

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75.

Latif F et al. (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene.

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76.

Gilcrease MZ et al. (1995) Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis.

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77.

Gross DJ et al. (1996) Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene.

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78.

Crossey PA et al. (1995) Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

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79.

Zhuang Z et al. (1996) von Hippel-Lindau disease gene deletion detected in microdissected sporadic human colon carcinoma specimens.

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80.

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81.

Lee S et al. (1996) Nuclear/cytoplasmic localization of the von Hippel-Lindau tumor suppressor gene product is determined by cell density.

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82.

Richards FM et al. (1996) Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.

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83.

Oberstrass J et al. (1996) Mutation of the Von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system.

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84.

Kenck C et al. (1996) Mutation of the VHL gene is associated exclusively with the development of non-papillary renal cell carcinomas.

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85.

Iliopoulos O et al. (1996) Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein.

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86.

Chen F et al. (1996) Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

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87.

Zbar B et al. (1996) Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

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88.

Garcia A et al. (1997) Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma.

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89.

Gnarra JR et al. (1997) Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice.

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90.

Mukhopadhyay D et al. (1997) The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity.

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91.

Béroud C et al. (1998) Software and database for the analysis of mutations in the VHL gene.

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92.

Pause A et al. (1998) The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal.

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93.

Ohh M et al. (1998) The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix.

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94.

van der Harst E et al. (1998) Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

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95.

Schoenfeld A et al. (1998) 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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96.

Iliopoulos O et al. (1998) pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation.

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97.

Ivanov SV et al. (1998) Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes.

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98.

Olschwang S et al. (1998) Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

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99.

Schimke RN et al. (1998) Functioning carotid paraganglioma in the von Hippel-Lindau syndrome.

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