Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Folliculäres Schilddrüsenkarzinom
HRAS
NRAS

Referenzen:

1.

Goriely A et. al. (2009) Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

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2.

Dajee M et. al. (2003) NF-kappaB blockade and oncogenic Ras trigger invasive human epidermal neoplasia.

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3.

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

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4.

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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5.

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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6.

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

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7.

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

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8.

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

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9.

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

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10.

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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11.

Chaganti RS et. al. (1985) Germ-line chromosomal localization of genes in chromosome 11p linkage: parathyroid hormone, beta-globin, c-Ha-ras-1, and insulin.

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12.

Ryberg D et. al. (1990) Ha-ras-1 alleles in Norwegian lung cancer patients.

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13.

None (1989) ras oncogenes in human cancer: a review.

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14.

Tong LA et. al. (1989) Structural differences between a ras oncogene protein and the normal protein.

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15.

Corell B et. al. (1988) Comparison between the allelic frequency distribution of the Ha-ras 1 locus in normal individuals and patients with lymphoma, breast, and ovarian cancer.

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16.

Fujita J et. al. (1985) Frequency of molecular alterations affecting ras protooncogenes in human urinary tract tumors.

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17.

Greenhalgh DA et. al. (1985) c-Ha-ras not c-Ki-ras activation in three colon tumour cell lines.

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18.

Ishii S et. al. (1985) Promoter region of the human Harvey ras proto-oncogene: similarity to the EGF receptor proto-oncogene promoter.

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19.

Stallings RL et. al. (1986) Assignment of RAS proto-oncogenes in Chinese hamsters: implications for mammalian gene linkage conservation and neoplasia.

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20.

Hiwasa T et. al. (1988) Inhibition of cathepsin L-induced degradation of epidermal growth factor receptors by c-Ha-ras gene products.

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21.

Colby WW et. al. (1986) Biochemical characterization of polypeptides encoded by mutated human Ha-ras1 genes.

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22.

Srivastava SK et. al. (1985) Effects of two major activating lesions on the structure and conformation of human ras oncogene products.

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23.

Yokota J et. al. (1986) Alterations of myc, myb, and rasHa proto-oncogenes in cancers are frequent and show clinical correlation.

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24.

Eccles MR et. al. (1984) Harvey-ras allele deletion detected by in situ hybridization to Wilms' tumor chromosomes.

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25.

Sekiya T et. al. (1984) Molecular cloning and the total nucleotide sequence of the human c-Ha-ras-1 gene activated in a melanoma from a Japanese patient.

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26.

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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27.

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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28.

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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29.

Chang EH et. al. (1982) Human genome contains four genes homologous to transforming genes of Harvey and Kirsten murine sarcoma viruses.

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30.

de Martinville B et. al. (1983) Oncogene from human EJ bladder carcinoma is located on the short arm of chromosome 11.

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31.

Goyette M et. al. (1983) Expression of a cellular oncogene during liver regeneration.

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32.

Capon DJ et. al. (1983) Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue.

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33.

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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34.

Jhanwar SC et. al. (1983) Localization of c-ras oncogene family on human germ-line chromosomes.

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35.

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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36.

Fasano O et. al. (1984) Analysis of the transforming potential of the human H-ras gene by random mutagenesis.

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37.

Muschel RJ et. al. (1983) The human c-ras1H oncogene: a mutation in normal and neoplastic tissue from the same patient.

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38.

Pincus MR et. al. (1983) Prediction of the three-dimensional structure of the transforming region of the EJ/T24 human bladder oncogene product and its normal cellular homologue.

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39.

Gibbs JB et. al. (1984) Autophosphorylation of v-Ha-ras p21 is modulated by amino acid residue 12.

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40.

Taparowsky E et. al. (1982) Activation of the T24 bladder carcinoma transforming gene is linked to a single amino acid change.

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41.

Krontiris TG et. al. (1993) An association between the risk of cancer and mutations in the HRAS1 minisatellite locus.

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42.

Bianchi AB et. al. (1993) Reassignment of the H-ras-1 gene to the Hbb-terminus region of mouse chromosome 7.

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43.

Phelan CM et. al. (1996) Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus.

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44.

Russell MW et. al. (1996) A 500-kb physical map and contig from the Harvey ras-1 gene to the 11p telomere.

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45.

de Boode WP et. al. (1996) Myopathology in patients with a Noonan phenotype.

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46.

Sears R et. al. (1999) Ras enhances Myc protein stability.

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47.

Hahn WC et. al. (1999) Creation of human tumour cells with defined genetic elements.

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48.

Selcen D et. al. (2001) Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome?

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49.

Mochizuki N et. al. (2001) Spatio-temporal images of growth-factor-induced activation of Ras and Rap1.

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50.

Oft M et. al. (2002) Metastasis is driven by sequential elevation of H-ras and Smad2 levels.

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51.

Weijzen S et. al. (2002) Activation of Notch-1 signaling maintains the neoplastic phenotype in human Ras-transformed cells.

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52.

Zhu JJ et. al. (2002) Ras and Rap control AMPA receptor trafficking during synaptic plasticity.

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53.

Zutt M et. al. (2003) Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets.

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54.

Stassou S et. al. (2005) A new syndrome of myopathy with muscle spindle excess.

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55.

Aoki Y et. al. (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome.

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56.

Gripp KW et. al. (2006) HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

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57.

Kerr B et. al. (2006) Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

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58.

Sol-Church K et. al. (2006) Paternal bias in parental origin of HRAS mutations in Costello syndrome.

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59.

Zhang X et. al. (2006) The HBP1 transcriptional repressor participates in RAS-induced premature senescence.

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60.

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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61.

Di Micco R et. al. (2006) Oncogene-induced senescence is a DNA damage response triggered by DNA hyper-replication.

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62.

van der Burgt I et. al. (2007) Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.

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63.

Ancrile B et. al. (2007) Oncogenic Ras-induced secretion of IL6 is required for tumorigenesis.

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64.

Stites EC et. al. (2007) Network analysis of oncogenic Ras activation in cancer.

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65.

Denayer E et. al. (2008) Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

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66.

Lo IF et. al. (2008) Severe neonatal manifestations of Costello syndrome.

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67.

Gripp KW et. al. (2008) Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

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68.

Schuhmacher AJ et. al. (2008) A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition.

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69.

McMurray HR et. al. (2008) Synergistic response to oncogenic mutations defines gene class critical to cancer phenotype.

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70.

Lu CW et. al. (2008) Ras-MAPK signaling promotes trophectoderm formation from embryonic stem cells and mouse embryos.

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71.

Kuniba H et. al. (2009) Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.

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72.

To MD et. al. (2008) Kras regulatory elements and exon 4A determine mutation specificity in lung cancer.

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73.

Piccione M et. al. (2009) A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

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74.

Gough DJ et. al. (2009) Mitochondrial STAT3 supports Ras-dependent oncogenic transformation.

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75.

Gremer L et. al. (2010) Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

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76.

Gripp KW et. al. (2011) Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

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77.

Hafner C et. al. (2011) HRAS mutation mosaicism causing urothelial cancer and epidermal nevus.

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78.

Groesser L et. al. (2012) Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

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79.

Lorenz S et. al. (2013) Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

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80.

Sarin KY et. al. (2013) Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus.

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81.

Levinsohn JL et. al. (2014) Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.

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82.

Sarin KY et. al. (2014) Activating HRAS mutation in nevus spilus.

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Update: 26. September 2018