Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

E3 Ubiquitin-Proteinligase CBL

Das CBL-Gen kodiert ein Ubiquitin und ist damit für die Degradation von Proteinen verantwortlich. Es wird als Proto-Onkogen bezeichnet und Mutationen führen zu einem autosomal dominanten Noonan-Syndrom ähnlichen Krankheitsbild und juvenile myelomonozytische Leukämie.

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:

Noonan-Syndrom ähnliches Krankheitsbild und juvenile myelomonozytische Leukämie
CBL

Referenzen:

1.

Shen Y et. al. (2000) InIB-dependent internalization of Listeria is mediated by the Met receptor tyrosine kinase.

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2.

Veiga E et. al. (2005) Listeria hijacks the clathrin-dependent endocytic machinery to invade mammalian cells.

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3.

Savage PD et. al. (1991) Relationship of the human protooncogene CBL2 on 11q23 to the t(4;11), t(11;22), and t(11;14) breakpoints.

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4.

Wei S et. al. (1990) Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus.

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5.

Langdon WY et. al. (1989) v-cbl, an oncogene from a dual-recombinant murine retrovirus that induces early B-lineage lymphomas.

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6.

Mastick CC et. al. (1995) Insulin stimulates the tyrosine phosphorylation of caveolin.

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7.

Jones C et. al. (1995) Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

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8.

Yoon CH et. al. (1995) Similarity of sli-1, a regulator of vulval development in C. elegans, to the mammalian proto-oncogene c-cbl.

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9.

Jones C et. al. (1994) Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.

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10.

Joazeiro CA et. al. (1999) The tyrosine kinase negative regulator c-Cbl as a RING-type, E2-dependent ubiquitin-protein ligase.

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11.

Baumann CA et. al. (2000) CAP defines a second signalling pathway required for insulin-stimulated glucose transport.

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12.

Thien CB et. al. (2001) RING finger mutations that abolish c-Cbl-directed polyubiquitination and downregulation of the EGF receptor are insufficient for cell transformation.

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13.

Soubeyran P et. al. (2002) Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors.

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14.

Petrelli A et. al. (2002) The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met.

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15.

Naramura M et. al. (2002) c-Cbl and Cbl-b regulate T cell responsiveness by promoting ligand-induced TCR down-modulation.

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16.

Fu JF et. al. (2003) Identification of CBL, a proto-oncogene at 11q23.3, as a novel MLL fusion partner in a patient with de novo acute myeloid leukemia.

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17.

Nau MM et. al. (2003) Comparative genomic organization of the cbl genes.

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18.

Molero JC et. al. (2004) c-Cbl-deficient mice have reduced adiposity, higher energy expenditure, and improved peripheral insulin action.

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19.

Dragone LL et. al. (2006) Src-like adaptor protein (SLAP) regulates B cell receptor levels in a c-Cbl-dependent manner.

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20.

Loh ML et. al. (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

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21.

Sanada M et. al. (2009) Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

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22.

Muramatsu H et. al. (2010) Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.

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23.

Rathinam C et. al. (2010) c-Cbl deficiency leads to diminished lymphocyte development and functions in an age-dependent manner.

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24.

Pérez B et. al. (2010) Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

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25.

Martinelli S et. al. (2010) Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

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26.

Niemeyer CM et. al. (2010) Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

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27.

Martin HC et. al. (2014) Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

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28.

Pathak A et. al. (2015) Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.

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Update: 26. September 2018

 

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