Sökning: "neurofibromatosis type I NF1"
Visar resultat 1 - 5 av 7 avhandlingar innehållade orden neurofibromatosis type I NF1.
1. Gastrointestinal stromal tumors. Pathogenetic mechanisms, phenotypic characterization and prognosis
Sammanfattning : Gastrointestinal stromal tumor (GIST), the most common non-epithelial neoplasm of the gastrointestinal tract, has historically been problematic both conceptually and clinically. Recently, GIST has been shown to share phenotypic features with the interstitial cells of Cajal (ICC), including the almost uniform expression of the tyrosine kinase receptor KIT. LÄS MER
2. The Importance of Isoprenylation and Nf1 Deficiency in K-RAS-induced Cancer
Sammanfattning : The RAS and RHO family proteins contribute to tumorigenesis and metastasis and belong to a family of so called CAAX proteins. The membrane targeting and proper function of CAAX proteins are dependent on posttranslational isoprenylation by farnesyltransferase (FTase) or geranylgeranyltransferase type I (GGTase-I). LÄS MER
3. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome
Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. LÄS MER
4. RAS-MAPK syndromes - a Clinical and Molecular Investigation
Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER
5. Congenital heart disease, genetic syndromes, and childhood cancer
Sammanfattning : Childhood cancer is a diverse group of rare diseases and remains a significant global concern, despite substantial improvements in survival outcomes. Yet, little is known about its etiology. LÄS MER