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Showing 1 to 5 of 5 for “"신경섬유종증"”.
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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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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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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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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 …