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 20 of 58 for “"NF1"”.
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Knowledge and Self-Esteem In Individuals With Neurofibromatosis Type 1 (Nf1)
<p>Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized mainly by café-au-lait macules, Lisch nodules, as well as cutaneous and subcutaneous neurofibromas among other traits. Due to the physical manifestations of the condition, it has been observed that individuals with …
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Functional Analysis of SOX11 and NF1 in Sensory Neuron Development and Plasticity
… 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 attributed to enhanced PI3K activity in the absence of Nf1. In …
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Functional study of the IFITM1 gene related to tumor progression of NF1
"국문요약 i 차례 iv 그림차례 v 표차례 vi Ⅰ. 서론 1 Ⅱ. 재료 및 방법 9 1. Tissue sample 9 2. Primary fibroblast 배양 10 3. 유전자 과발현을 위한 IFITM1 construct 구축 10 4. Total RNA 추출 및 cDNA 합성 12 5. RT-PCR (Reverse Transcription-PCR) 12 6. Western blot analysis 13 7. Ras activation assay 15 8. Cell death assay 15 9. Transfection …
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Therapeutic Targeting Of Bmp2 In Nf1-Deficient Malignant Peripheral Nerve Sheath Tumors (mpnsts)
<p>Neurofibromatosis type I (NF1)-deficient malignant peripheral nerve sheath tumor (MPNST) is an aggressive tumor for which the standard treatment is surgical removal with wide margins, often leaving behind cancer cells needing chemotherapy. RAS-GRD is the most widely studied functional target of …
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Identification of transcriptional mechanisms downstream of nf1 gene defeciency in malignant peripheral nerve sheath tumors
… mutations in the neurofibromatosis type I gene (Nf1) as well as sporadically. Plexiform neurofibromas in NF1 patients have a significant risk of developing into MPNSTs leading to increased morbidity and mortality from this syndrome. Surgery is the primary intervention but it is not always …
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Psychosocial Issues That Face Patients With Neurofibromatosis Type 1(NF1) and The Role of Genetic Counseling
Neurofibromatosis type 1 (NF1) is an genetic disorder that causes psychosocial issues with varying degrees of symptoms such as cosmetic impairment, learning disability, cognitive dysfunction, etc. Since NF1 is accompanied by externally visible features including development of cafe-au-lait spots …
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Molecular Genetic Analysis of Tumor Cells and Developmenet of RNA Interferance Therpy in Neurofibromatosis Type1(NF1)
Neurofibromatosis 1 (NF1) is the most common familial cancer syndrome in humans, with a birth incidence of 1:3500 and a prevalence of 1:4000-.1:5000 in the general population. NF1 is transmitted in an autosomal dominant manner, with about 30-50% of NF1 patients representing de novo germline …
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NF1 AS A REGULATOR OF CYTOSKELETON DYNAMICS AND BIOMARKER FOR DECISION-MAKING IN HER2-POSITIVE BREAST CANCER
The tumour suppressor NF1 is best characterised as a canonical negative Ras regulator, but sparse evidence suggests additional Ras-independent roles. The interaction of its product neurofibromin with both microtubule (MT) and actin cytoskeleton remains poorly characterised to date but may be of …
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Erk1 and Erk2 in hematopoiesis, mast cell function, and the management of Nf1-associated leukemia and tumors
… spontaneous autosomal dominant mutations in the NF1 gene, which encodes a protein serving, at least in part, to accelerate the intrinsic hydrolysis of active Ras-GTP to inactive Ras-GDP. A second-hit NF1 mutation precedes predominant NF1 neoplasms, including juvenile myelomoncytic leukemia (JMML) …
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Myeloid cells induce neurofibromatosis type 1 aneurysm formation through inflammation and oxidative stress
Neurofibromatosis Type 1 (NF1) is a genetic disorder resulting 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 …
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Studies on the Molecular Mechanisms of Tumorigenesis in Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is one of the most common inherited autosomal dominant disorders, with an estimated incidence of 1 per 3,500 births. NF1 is characterized by a high incidence of benign and malignant tumors attributed to loss of function of NF1. NF1 gene encodes neurofibromin, a tumor …
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New insights in the molecular pathogenesis of neurofibromatosis type 1
Neurofibromatosis type 1 (NF1; OMIM 162200) is one of the most common autosomal dominant genetic disorders, affecting approximately 1 in 3500 individuals worldwide. The most common clinical manifestations are pigmentary abnormalities together with the development of benign peripheral nerve sheath …
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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.
Neurofibromatosis 1 (NF1) is among the first tumor suppressor genes to be cloned. Loss-of-function (LoF) mutations in NF1 are at the basis of the onco-developmental syndrome Neurofibromatosis type 1 and are frequently found at the somatic level across multiple tumors. In breast cancer, NF1 LoF has …
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ADHD and Medical Correlates of Bullying of Pediatric Neurofibromatosis Patients
Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder that involves nervous system tumor growth, and it is one of the most frequently occurring genetic disorders. NF1 is a multisystem disease with a complex phenotype. Given the range in severity of presentation in NF1, research has shown …
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Screening and Functional Study of the Genes inducing Malignant Degeneration of Neurofibromatosis Type 1
Neurofibromatosis type 1(NF1) is one of the most common inherited autosomal dominant disorders, with an estimated incidence of 1 per 3,500 births. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein(G AP), neurofibromin. NF1 is clinically …
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The role and function of the Ras-related protein TC21 in Neurofibromatosis type 1
… 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 NF1 disease, indicating that increased …
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The Role of Bcl-xL and EGFR in the Malignant Progression of Neurofibromatosis type 1
Neurofibromatosis Type 1 (NF1) is one of the most commonly inherited autosomal dominant human genetic disorders, with an incidence of approximately 1 in 3000~3500 individuals worldwide. NF1 is caused by loss-of-function mutations in the NF1 gene encoding neurofibromin, a GTPase-activating protein …
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Μιτοχονδριακή ενεργότητα στη Νευροϊνωμάτωση 1
… λόγω του μεγέθους και της δομής του γονιδίου NF1 και του πρωτεϊνικού προϊόντος του, διαφορετικές μεταλλάξεις συχνά οδηγούν σε διαφορετικά παθολογικά συμπτώματα. Οι συγκεκριμένοι μηχανισμοί δράσης παραμένουν ασαφείς. Δύο αξιοσημείωτες μεταλλάξεις - οι υποκαταστάσεις R1809C και C1045Y. …
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