Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Onkogene NRAS

Das NRAS-Gen kodiert ein Membranprotein, welches für den TRansport vom Golgi-Apperat zur Plasmamembran verantwortlich ist. Keimbahnmutationen führen zum autosomal dominanten Noonan-Syndrom 6 und somatische Mutationen werden bei verschiedenen Tumoren gesehen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Folliculäres Schilddrüsenkarzinom
HRAS
NRAS
Noonan-Syndrom 6
TRHR

Referenzen:

1.

Dracopoli NC et. al. (1990) Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat.

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2.

Lübbert M et. al. (1990) N-ras gene point mutations in childhood acute lymphocytic leukemia correlate with a poor prognosis.

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3.

Hall A et. al. (1985) Human N-ras: cDNA cloning and gene structure.

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4.

Nitta N et. al. (1987) Amino-acid substitution at codon 13 of the N-ras oncogene in rectal cancer in a Japanese patient.

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5.

Popescu NC et. al. (1985) Chromosomal localization of three human ras genes by in situ molecular hybridization.

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6.

Povey S et. al. (1985) Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2.

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7.

Münke M et. al. (1984) Comparative analysis of mouse-human hybrids with rearranged chromosomes 1 by in situ hybridization and Southern blotting: high-resolution mapping of NRAS, NGFB, and AMY on human chromosome 1.

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8.

Marshall CJ et. al. (1982) A transforming gene present in human sarcoma cell lines.

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9.

Ryan J et. al. (1983) Chromosomal assignment of a family of human oncogenes.

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10.

Yuasa Y et. al. (1984) Mechanism of activation of an N-ras oncogene of SW-1271 human lung carcinoma cells.

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11.

Taparowsky E et. al. (1983) Structure and activation of the human N-ras gene.

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12.

Davis M et. al. (1983) Localisation of the human N-ras oncogene to chromosome 1cen - p21 by in situ hybridisation.

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13.

Rabin M et. al. (1984) NRAS transforming gene maps to region p11----p13 on chromosome 1 by in situ hybridization.

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14.

Mitchell EL et. al. (1995) Determination of the gene order of the three loci CD2, NGFB, and NRAS at human chromosome band 1p13 and refinement of their localisation at the subband level by fluorescence in situ hybridisation.

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15.

Bezieau S et. al. (2001) High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis.

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16.

Matallanas D et. al. (2003) Differences on the inhibitory specificities of H-Ras, K-Ras, and N-Ras (N17) dominant negative mutants are related to their membrane microlocalization.

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17.

Nikiforova MN et. al. (2003) RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma.

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18.

Vasko V et. al. (2003) Specific pattern of RAS oncogene mutations in follicular thyroid tumors.

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19.

Rocks O et. al. (2005) An acylation cycle regulates localization and activity of palmitoylated Ras isoforms.

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20.

Johnson SM et. al. (2005) RAS is regulated by the let-7 microRNA family.

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21.

Takahashi C et. al. (2006) Nras loss induces metastatic conversion of Rb1-deficient neuroendocrine thyroid tumor.

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22.

Matsuda K et. al. (2007) Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.

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23.

Oliveira JB et. al. (2007) NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

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24.

Haigis KM et. al. (2008) Differential effects of oncogenic K-Ras and N-Ras on proliferation, differentiation and tumor progression in the colon.

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25.

Dessars B et. al. (2009) Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis.

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26.

De Filippi P et. al. (2009) Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.

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27.

Cirstea IC et. al. (2010) A restricted spectrum of NRAS mutations causes Noonan syndrome.

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28.

Niemela JE et. al. (2011) Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis.

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29.

Nazarian R et. al. (2010) Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.

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30.

Hafner C et. al. (2012) Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

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31.

Kinsler VA et. al. (2013) Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

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32.

et. al. (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

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33.

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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34.

Miller CA et. al. (2013) Genomic landscapes and clonality of de novo AML.

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35.

Brewin J et. al. (2013) Genomic landscapes and clonality of de novo AML.

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36.

Li Q et. al. (2013) Oncogenic Nras has bimodal effects on stem cells that sustainably increase competitiveness.

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