Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"PTPN11"”.
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Funktionelle Untersuchungen zum PTPN11-Genprodukt SHP2 und zu PTPN11 Mutanten, die dem Noonan-Syndrom zugrunde liegen
… Noonan-Patienten können missense Mutationen im PTPN11-Gen diagnostiziert werden. PTPN11-Mutationen können auch bei der allelische Variante von NS, dem LEOPARD-Syndrom (LS) gefunden werden. PTPN11 kodiert für die Nichtrezeptor Protein-Tyrosin-Phosphatase SHP2, die zwei Src-homology-2 (SH2) …
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Rôles de la protéine tyrosine phosphatase SHP-2 dans l'inflammation intestinale et le cancer colorectal associé à la colite
… témoins. Également, deux polymorphismes de PTPN11 sont retrouvés préférentiellement chez les patients atteints de colite ulcéreuse. En conclusion, nos résultats démontrent que la phosphatase SHP-2 protège l'épithélium intestinal contre l'inflammation et le cancer colorectal associé à la …
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Das Interaktom der SH2-Domänen der Proteintyrosinphosphatase SHP2 und ihren krankheitsrelevanten Mutanten
… pathways. Germline and somatic mutations in PTPN11 are known be involved in several diseases like Noonan or LEOPARD syndrome or leukemia. Several of these mutations show altered enzymatic activity due to changed auto-inhibition but not all disease patterns can be explained by this …
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Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing
… BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 and SPRED1. Results: Of the 26 patients included, 50% had a family history suggestive of NS. The median age at diagnosis was4.5 years (range: 1month-51years). Individuals of mixed-race ancestry were most represented …
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Molecular signatures underlying the tumourigenic transformation in a CEBPA mutated model of leukaemia
… pathway, including mutations in the Kras, Nras, Ptpn11, Flt3 and Cbl genes. This result demonstrated that in this model, a single C-terminal CEBPA mutation alone is not sufficient to induce disease and requires secondary drivers. Intriguingly, secondary mutations recapitu- lated the most common …