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Showing 1 to 20 of 21 for “"neurofibromatosis type 1"”.
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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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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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Studies on the Mechanisms of Malignant Transformation in Neurofibromatosis Type 1
"신경섬유종증 제1형(Neurofibromatosis Type 1, NF1)은 1882년 Fredrich von Recklin-ghausen이 처음 기술하였으며, 말초신경을 따라 다기관에 다발적으로 종양을 형성하는 상염색체 우성 유전 질환으로 약 3500명중 1명꼴로 발생한다. NF1은 NF1 유전자의 돌연변이에 의해 발병하며, 환자의 약 50%는 유전이 아닌 자연발생적인 돌연변이에 의해 발생한다. 환자의 약 10%에서는 높은 사망률과 화학요법과 방사능에 낮은 반응을 보이는 malignant peripheral nerve …
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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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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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The role and function of the Ras-related protein TC21 in Neurofibromatosis type 1
Neurofibromatosis type 1 is a common autosomal dominant disorder 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 …
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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 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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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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Diagnosi molecolare della Distrofia Muscolare di Duchenne e della Neurofibromatosi tipo 1 con la tecnologia di sequenziamento Next Generation
… by mutations in the dystrophin gene (DMD). Neurofibromatosis 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 …
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Novel Small Molecule Induces Apoptosis in Malignant Peripheral Nerve Sheath Tumors of Neurofibromatosis Type I
Neurofibromatosis Type 1 (NF1) is an autosomal disease that affects neural crest-derived tissues, leading to a wide spectrum of clinical presentations. Patients commonly present with plexiform neurofibromas, benign but debilitating growths that can transform into malignant peripheral nerve sheath …
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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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Mechanistic and Therapeutic Insights for Epigenetic Regulation in Cancer Development
… that develop sporadically or in patients with Neurofibromatosis type 1 (NF1). Effective treatment options are lacking, and MPNSTs are typically fatal. To gain insights into MPNST pathogenesis, we utilized a novel MPNST mouse model that allowed us to study the evolution of these tumors at the …
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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
Neurofibromatosis Type 1 (NF1) is a highly penetrant autosomal dominant genetic disorder where mutations in 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). …
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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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Predicting Disease Progression Using Deep Recurrent Neural Networks and Longitudinal Electronic Health Record Data
… data that can be used to describe patient phenotypes. From the underlying data structures used in the EHR, discrete data can be extracted and analyzed to improve patient care and outcomes via tasks such as risk stratification and prospective disease management. Temporality in EHR is innately …
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GENETIC CONTROL OF EYE AND CENTRAL NERVOUS SYSTEM DEVELOPMENT
… of Nf1, the Ras GTPase gene underlying human neurofibromatosis type 1 syndrome, caused lens dysgenesis in mouse. While early lens specification proceeded normally in Nf1 mutants, lens induction was disrupted due to deficient cell proliferation. Further analysis showed that ERK signaling was …
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Erk1 and Erk2 in hematopoiesis, mast cell function, and the management of Nf1-associated leukemia and tumors
Neurofibromatosis type 1 is a genetic disease that results from either heritable or 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 …
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Targeting Histone Deacetylases (Hdac) For The Treatment of Soft Tissue Sarcoma
… peripheral nerve sheath tumor (MPNST), a subtype of highly aggressive, therapeutically resistant, and commonly fatal malignancies that occur in patients with neurofibromatosis type-1 (NF1) or sporadically. The therapeutic efficacy of HDACi was investigated in a panel of NF1-associated and …
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Phylogenetic studies into the development of foetal tissues and their neoplastic derivatives
… clinical and histopathological utility of these types of experiments and considering new studies to gauge the impact of mutation on organogenesis. Lastly, I highlight other areas of child health where study of somatic mutation may prove beneficial.
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