Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1
نویسندگان
چکیده
منابع مشابه
Segmental Neurofibromatosis Type 1, a Rare Variant of Neurofibromatosis: Report of Two Cases
Segmental neurofibromatosis type I (SNF-I) is a rare variant of neurofibromatosis (NF). It is classified as NF type V and defined as cafe'-au-lait macules and/or neurofibromas in a single ,unilateral segment of the body .We report two cases with SNF-I with striking similar manifestations.
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Mutations in the tumor suppressor gene NF2 lead to Neurofibromatosis type 2 (NF2), a tumor predisposition syndrome characterized by the development of schwannomas, including bilateral vestibular schwannomas with complete penetrance. Recent work has implicated the importance of COX-2 in schwannoma growth. Using a genetically engineered murine model of NF2, we demonstrate that selective inhibitio...
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a 28-year-old man with neurofibromatosis type 1(nf1) presented with a tumor in the sciatic nerve and femoral nerve. the differential diagnosis of malignant peripheral nerve sheath tumor was based on clinical, radiological, and histological evidence. the tumor apparently originated in sciatic nerve at the posterior aspect of the left thigh. the lesion was resected totally without neural damage t...
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Objective: The objective of this article is to highlight the various soft tissue and skeletal manifestations of craniofacial neurofibromatosis and the challenges involved in the surgical management of patients with complex cases. Methodology:An extensive literature review was conducted to highlight the clinical features of craniofacial neurofibromatosis. The notable challenges of management fro...
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INTRODUCTION Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 a...
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ژورنال
عنوان ژورنال: Communications Biology
سال: 2018
ISSN: 2399-3642
DOI: 10.1038/s42003-018-0163-y