Von Hippel-Lindau Tumorsuppressor
Da es sich um eine Tumorsuppressorgen handelt sind Mutationen des VHL-Gens für verschiedene benigne und maligne Tumoren verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
None (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. |
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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5. |
Vasserman NN et al. (1999) Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.
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6. |
Ang SO et al. (2002) Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
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7. |
Percy MJ et al. (2003) Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.
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8. |
Pastore Y et al. (2003) Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
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9. |
Liu E et al. (2004) The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.
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10. |
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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11. |
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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12. |
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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13. |
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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14. |
Russell RC et al. (2011) Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.
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15. |
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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16. |
Neumann HP et al. (1993) Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease.
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17. |
Crossey PA et al. (1995) Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
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18. |
van der Harst E et al. (1998) Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.
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19. |
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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20. |
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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21. |
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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22. |
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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23. |
Zatyka M et al. (2002) Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter.
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24. |
TISHERMAN SE et al. (1962) Familial pheochromocytoma.
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25. |
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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26. |
Neumann HP et al. (1991) Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus.
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27. |
Ong KR et al. (2007) Genotype-phenotype correlations in von Hippel-Lindau disease.
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28. |
Nordstrom-O'Brien M et al. (2010) Genetic analysis of von Hippel-Lindau disease.
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29. |
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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30. |
Chen F et al. (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.
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31. |
Brauch H et al. (1995) Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.
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32. |
Herman JG et al. (1994) Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma.
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33. |
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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34. |
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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35. |
Latif F et al. (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene.
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36. |
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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37. |
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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38. |
Schimke RN et al. (1998) Functioning carotid paraganglioma in the von Hippel-Lindau syndrome.
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39. |
Maxwell PH et al. (1999) The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.
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40. |
Kanno H et al. (2000) Role of the von Hippel-Lindau tumor suppressor protein during neuronal differentiation.
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41. |
Bender BU et al. (2000) Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas.
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42. |
Haase VH et al. (2001) Vascular tumors in livers with targeted inactivation of the von Hippel-Lindau tumor suppressor.
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43. |
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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44. |
Ivan M et al. (2001) HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing.
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45. |
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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46. |
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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47. |
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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48. |
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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49. |
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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50. |
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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51. |
Min JH et al. (2002) Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling.
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52. |
Hon WC et al. (2002) Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.
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53. |
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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54. |
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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55. |
Pastore YD et al. (2003) Mutations in the VHL gene in sporadic apparently congenital polycythemia.
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56. |
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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57. |
Hergovich A et al. (2003) Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.
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58. |
Staller P et al. (2003) Chemokine receptor CXCR4 downregulated by von Hippel-Lindau tumour suppressor pVHL.
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59. |
Wait SD et al. (2004) Somatic mutations in VHL germline deletion kindred correlate with mild phenotype.
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60. |
Gallou C et al. (2004) Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
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61. |
Gläsker S et al. (2006) Second hit deletion size in von Hippel-Lindau disease.
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62. |
Abbott MA et al. (2006) The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
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63. |
Roe JS et al. (2006) p53 stabilization and transactivation by a von Hippel-Lindau protein.
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64. |
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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65. |
Wang Y et al. (2007) The hypoxia-inducible factor alpha pathway couples angiogenesis to osteogenesis during skeletal development.
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66. |
Lolkema MP et al. (2008) Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor.
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67. |
Zehetner J et al. (2008) PVHL is a regulator of glucose metabolism and insulin secretion in pancreatic beta cells.
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68. |
Wang Y et al. (2009) Regulation of endocytosis via the oxygen-sensing pathway.
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69. |
Lee CM et al. (2009) VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.
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70. |
Mehta R et al. (2009) Proteasomal regulation of the hypoxic response modulates aging in C. elegans.
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71. |
Sovinz P et al. (2010) Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
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72. |
Neumann HP et al. (1995) Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
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73. |
Iliopoulos O et al. (1995) Tumour suppression by the human von Hippel-Lindau gene product.
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74. |
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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75. |
Duan DR et al. (1995) Inhibition of transcription elongation by the VHL tumor suppressor protein.
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76. |
Kibel A et al. (1995) Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C.
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77. |
Kuzmin I et al. (1995) Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene.
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78. |
Loeb DB et al. (1994) A novel mutation in the von Hippel-Lindau gene.
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79. |
Kanno H et al. (1994) Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas.
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80. |
Rubenstein JL et al. (1994) von Hippel-Lindau and the genetics of astrocytoma.
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81. |
Gilcrease MZ et al. (1995) Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis.
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82. |
Gross DJ et al. (1996) Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene.
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83. |
Zhuang Z et al. (1996) von Hippel-Lindau disease gene deletion detected in microdissected sporadic human colon carcinoma specimens.
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84. |
None (1995) Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.
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85. |
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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86. |
Richards FM et al. (1996) Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.
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87. |
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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88. |
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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89. |
Iliopoulos O et al. (1996) Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein.
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90. |
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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91. |
Gnarra JR et al. (1997) Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice.
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92. |
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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93. |
Béroud C et al. (1998) Software and database for the analysis of mutations in the VHL gene.
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94. |
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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95. |
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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96. |
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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97. |
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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98. |
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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99. |
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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100. |
NCBI article
NCBI 7428
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101. |
OMIM.ORG article
Omim 608537
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102. |
Orphanet article
Orphanet ID 120467
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103. |
Wikipedia Artikel
Wikipedia DE (Von-Hippel-Lindau-Tumorsuppressor)
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Update: 14. August 2020