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 18 of 18 for “"neurofibromin"”.
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The Role of Bcl-xL and EGFR in the Malignant Progression of Neurofibromatosis type 1
… mutations in the NF1 gene encoding neurofibromin, a GTPase-activating protein that regulates the small GTPase Ras signaling pathway by converting the active GTP-Ras to an inactive GDP-Ras. The transformation of benign plexiform neurofibromas (PNs) to malignant peripheral nerve sheet …
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Identification of transcriptional mechanisms downstream of nf1 gene defeciency in malignant peripheral nerve sheath tumors
… tissue or grow in an inoperable location. Neurofibromin, the protein coded by the Nf1 gene, functions as a GTPase activating protein (GAP) whose mutation leads to constitutive activation of RAS and mitogen-activated protein kinase (MAPK) signaling in NF1 patientsf tumors. However, …
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Control of perineurial glial growth in Drosophila melanogaster
… a potassium channel; and NF1, which encodes neurofibromin and is the Drosophila ortholog of the human gene responsible for Neurofibromatosis type1. I provide evidence that neurofibromin, in accordance with its role as a Ras guanosine triphosphatase activating protein (Ras GAP), acts to down …
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Molecular Genetic Analysis of Tumor Cells and Developmenet of RNA Interferance Therpy in Neurofibromatosis Type1(NF1)
… type I. Although its encoded protein, neurofibromin, functions as a Ras-GTPase activating protein, nothing is known about how it is normally regulated or its precise role in controlling Ras signaling pathways. Neurofibromin deficiency typically causes chronic activation of Ras, …
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Myeloid cells induce neurofibromatosis type 1 aneurysm formation through inflammation and oxidative stress
… from mutations in the NF1 tumor suppressor gene. Neurofibromin is the protein product of NF1 and functions as a negative regulator of Ras activity in both hematopoietic and vascular wall cells, which are critical for maintaining blood vessel homeostasis. NF1 patients are predisposed to chronic …
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The role and function of the Ras-related protein TC21 in Neurofibromatosis type 1
… affecting 1in 3500 individuals worldwide. Neurofibromin, the protein mutated in NF1 disease, is a GTPase activating protein (GAP) for Ras proteins, inactivating the Ras proteins H-Ras, N-Ras, K-Ras, M-Ras, R-Ras, and TC21. Missense mutations in the GAP related domain of neurofibromin cause …
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Diagnosi molecolare della Distrofia Muscolare di Duchenne e della Neurofibromatosi tipo 1 con la tecnologia di sequenziamento Next Generation
… type 1 (NF1), caused by mutations in the neurofibromin gene (NF1), is a multisystem genetic disorder that commonly is associated with cutaneous, neurologic, and orthopedic manifestations. Full characterisation of the mutational spectrum is necessary for genetic counselling, prenatal …
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Studies on the Molecular Mechanisms of Tumorigenesis in Neurofibromatosis Type 1
… to loss of function of NF1. NF1 gene encodes neurofibromin, a tumor suppressor with Ras-GAP activity that negatively regulates p21-RAS signaling. Neurofibromin deficiency typically causes chronic activation of Ras, which is thought to be a major contributor to manifestation of NF1. The …
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Genexpression des Adaptorproteins Shc bei Patienten mit Juveniler Myelomonozytärer Leukämie (JMML)
… (30) und Ras-aktivierende Mutationen des Neurofibromin-Gens (30) weisen in JMML-Patienten auf eine Beteiligung dieses Transduktionswegs hin. Das Adaptorprotein Shc vermittelt zwischen dem stimulierten GM-CSF Rezeptor und dem Ras-aktivierenden Komplex Grb2/Sos. In Tumorzellinien erwies sich …
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A Synthetic Lethal shRNA Screen and Genetic Proof of Concept Identifies RAC1 as a Novel Target to Disrupt Plexiform Neurofibroma Formation
… the tumor suppressor gene NF1 leads to decreased neurofibromin. The most debilitating manifestation is the presence of complex multilineage Schwann cell-derived plexiform neurofibromas (PN). Historically, little clinical success has been achieved targeting PN through surgery or chemotherapies. I …
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Defining the Developmental Signals of the Cardiac Fibroblast
… development. Using a conditional knockout of neurofibromin 1 (Nf1) in the epicardium, we identified Nf1 as a key mediator of epicardial EMT. We found that the process of EMT occurred earlier in Nf1 mutant hearts, with an increase in epicardial cells entering the compact myocardium. Moreover, …
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A NOVEL, RAS-INDEPENDENT ROLE FOR NF1 IN MICROTUBULE DYNAMICS AND DAMAGE REPAIR DICTATES SENSITIVITY TO T-DM1 IN HER2 POSITIVE BREAST CANCER.
… that attenuates RAS signaling. NF1 encodes Neurofibromin (NF1), a large multifunctional protein consisting of 2,818 amino acids. Because of its large size and difficulty in cloning, NF1 structure has resisted characterization for several years and only recently high-resolution …
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Functional Analysis of SOX11 and NF1 in Sensory Neuron Development and Plasticity
… plasticity following different types of injury. Neurofibromin, the protein encoded by the tumor suppressor gene Nf1, functions as a negative regulator of Ras and its two major downstream pathways: MEK-ERK and PI3K-Akt pathway. Nf1-/- embryonic sensory neurons survive without neurotrophin support …
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NF1 AS A REGULATOR OF CYTOSKELETON DYNAMICS AND BIOMARKER FOR DECISION-MAKING IN HER2-POSITIVE BREAST CANCER
… roles. The interaction of its product neurofibromin with both microtubule (MT) and actin cytoskeleton remains poorly characterised to date but may be of particular therapeutic interest as NF1 is somatically mutated across multiple tumour types. We identified NF1 as the second most …
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Screening and Functional Study of the Genes inducing Malignant Degeneration of Neurofibromatosis Type 1
… and encodes a GTPase activating protein(G AP), neurofibromin. NF1 is clinically characterized by cafe-au-lait(CAL) spots, neurofibromas, freckling of the axillary or inguinal region, Lisch nodules, optic nerve glioma, and bone dysplasias. NF1 is notable for the existence of a gradual malignant …
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Role of Dopamine D3 receptor in the regulation of memory related genes
Dopamine is postulated to be a key neurotransmitter that mediates human memory via signaling in the striatum, hippocampus and prefrontal cortex. The effects of dopaminergic system crucially depend on the different subtype of dopamine receptors involved and the brain regions in which they are …