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Showing 1 to 20 of 49 for “"Neurofibromatosis"”.
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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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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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Functional analysis of the Neurofibromatosis Type II tumor suppressor gene
Thesis (Ph.D.)--Massachusetts Institute of Technology, Dept. of Biology, 1999.
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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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Transition of Health Care For Adolescent Patients With Neurofibromatosis Type I: Parent Perspectives
… for adolescents living with a genetic disorder. Neurofibromatosis type I (NF1) is a complex disorder that can affect multiple systems―predominantly the nervous, cutaneous, and skeletal systems. NF1 is a common genetic disorder affecting approximately 1 in every 3000 to 3500 individuals and is …
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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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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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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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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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NEUROFIBROMATOSIS TYPE 2 PROTEIN (NF2) AS A REGULATOR OF TUMOR SUPPRESSORS AND VIRAL ONCOPROTEINS IN HUMAN GLIOBLASTOMA
… sheath tumors similar to patients with a form of Neurofibromatosis. Neurofibromatosis types 1 and 2 are inherited cancer disorders resulting from the inactivation of their specific tumor suppressor genes, NF1 and NF2, respectively. Inactivation of the NF2 gene, results in the development of …
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Creating a mouse model of neurofibromatosis type I : pathological and functional analysis of a tumor suppressor gene
Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 1998.
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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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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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Preliminary Study on How Tumor Suppressor Nf2 Inhibits Transcriptional Coactivators Yap/Taz in the Developing Mouse Brain
… is not well known. Recently the tumor suppressor neurofibromatosis 2 (Nf2) was shown to regulate the balance of neural progenitor proliferation and differentiation in the developing mouse brain through the Hippo pathway effectors, transcriptional coactivators Yap/Taz. The molecular mechanism of …
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A cancer screen in zebrafish identifies many ribosomal proteins as haploinsufficient tumor suppressors
… in which the known human tumor suppressor gene, neurofibromatosis type 2 (NF2), was mutated. This validated the screening approach, as well as confirmed the human relevance of the zebrafish system in the study of cancer. Surprisingly, all of the remaining tumor-prone lines identified in the …
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