GTPase HRas
Das HRAS ist ein Onkogen, welches eine GTPase kodiert. Keimbahnmutationen führen zum autosomal dominanten Costello-Syndrom, während somatische Mutationen bei Schilddrüsenkarzinomen gesehen werden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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2. |
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3. |
Zampino G et al. (2007) Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
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4. |
Zhang X et al. (2006) The HBP1 transcriptional repressor participates in RAS-induced premature senescence.
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5. |
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6. |
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7. |
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8. |
Aoki Y et al. (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome.
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9. |
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10. |
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11. |
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12. |
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13. |
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14. |
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15. |
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18. |
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19. |
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20. |
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21. |
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22. |
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23. |
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24. |
Levinsohn JL et al. (2014) Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.
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25. |
Sarin KY et al. (2013) Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus.
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26. |
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27. |
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28. |
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29. |
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30. |
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31. |
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32. |
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33. |
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34. |
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35. |
Lu CW et al. (2008) Ras-MAPK signaling promotes trophectoderm formation from embryonic stem cells and mouse embryos.
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36. |
McMurray HR et al. (2008) Synergistic response to oncogenic mutations defines gene class critical to cancer phenotype.
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37. |
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38. |
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39. |
Lo IF et al. (2008) Severe neonatal manifestations of Costello syndrome.
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40. |
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41. |
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42. |
Lim YH et al. (2014) Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
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43. |
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44. |
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45. |
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46. |
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47. |
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48. |
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49. |
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50. |
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51. |
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52. |
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53. |
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54. |
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55. |
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56. |
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57. |
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58. |
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59. |
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60. |
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61. |
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62. |
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63. |
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64. |
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65. |
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66. |
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67. |
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68. |
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69. |
Fearon ER et al. (1984) c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p.
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70. |
Jhanwar SC et al. (1983) Localization of c-ras oncogene family on human germ-line chromosomes.
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71. |
Feinberg AP et al. (1983) Mutation affecting the 12th amino acid of the c-Ha-ras oncogene product occurs infrequently in human cancer.
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72. |
Capon DJ et al. (1983) Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue.
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73. |
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74. |
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75. |
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76. |
Der CJ et al. (1982) Transforming genes of human bladder and lung carcinoma cell lines are homologous to the ras genes of Harvey and Kirsten sarcoma viruses.
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77. |
Wong-Staal F et al. (1981) Three distinct genes in human DNA related to the transforming genes of mammalian sarcoma retroviruses.
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78. |
Fisher JH et al. (1984) Wilms' tumor-aniridia association: segregation of affected chromosome in somatic cell hybrids, identification of cell surface antigen associated with deleted area, and regional mapping of c-Ha-ras-1 oncogene, insulin gene, and beta-globin gene.
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79. |
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80. |
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81. |
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82. |
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83. |
NCBI article
NCBI 3265
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84. |
OMIM.ORG article
Omim 190020
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85. |
Orphanet article
Orphanet ID 122499
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Update: 14. August 2020