https://scholars.lib.ntu.edu.tw/handle/123456789/519579
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | MING-JEN LEE | en_US |
dc.contributor.author | Stephenson D.A. | en_US |
dc.date.accessioned | 2020-11-03T11:32:30Z | - |
dc.date.available | 2020-11-03T11:32:30Z | - |
dc.date.issued | 2007 | - |
dc.identifier.issn | 1350-7540 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33947098325&doi=10.1097%2fWCO.0b013e3280895da8&partnerID=40&md5=92543d1a09d95cca6ebff5d040cfa172 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/519579 | - |
dc.description.abstract | PURPOSE OF REVIEW: This review summarizes the recent clinical and genetic developments in neurofibromatosis type 1 (NF1) and provides an insight into the possible underlying pathomechanisms. RECENT FINDINGS: NF1, or von Recklinghausen disease, is one of the most common hereditary neurocutaneous disorders in humans. Clinically, NF1 is characterized by caf?-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bony defects, Lisch nodules and tumors of the central nervous system. The responsible gene, NF1, encodes a 2818 amino acid protein (neurofibromin). Pathological mutations range from single nucleotide substitutions to large-scale genomic deletions dispersed throughout the gene. In addition to the conventional mutation screening methods, a DNA chip microarray-based technology, combinational sequence-based hybridization, has been introduced to expedite mutation detection. Functional analysis has become more amenable following the development of the following: (1) primary Schwann cell cultures from NF1 patients; (2) mouse models; (3) proteomic technologies; and (4) mRNA silencing by RNA interference. These studies have shown that neurofibromin plays a role in adenylate cyclase and AKT-mTOR mediated pathways. It also appears to affect Ras-GTPase activating protein activity through the phosphorylation of protein kinase C which impacts on cell motility by binding with actin in the cytoskeleton. SUMMARY: Recent advances in the clinical features and molecular genetics of NF1 will be discussed together with insights into the underlying pathomechanisms of NF1. ? 2007 Lippincott Williams & Wilkins, Inc. | - |
dc.relation.ispartof | Current Opinion in Neurology | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | actin; adenylate cyclase; amino acid; guanosine triphosphatase activating protein; mammalian target of rapamycin inhibitor; messenger RNA; neurofibromin; protein kinase B; protein kinase C; biotechnology; bone defect; bone disease; cafe au lait spot; cell culture; cell motility; central nervous system tumor; clinical feature; cognitive defect; combinatorial chemistry; cytoskeleton; disease model; DNA hybridization; DNA microarray; experimental mouse; functional assessment; gene deletion; gene mutation; gene silencing; genetic analysis; genetic disorder; genetic screening; genetics; genomics; human; lentigo; mental disease; molecular genetics; mutational analysis; neurofibroma; neurofibromatosis; neurologic disease; nonhuman; pathogenesis; phakomatosis; protein function; protein phosphorylation; proteomics; review; RNA interference; Schwann cell; signal transduction; single nucleotide polymorphism; skin manifestation; skin tumor; vascular disease; Animals; Disease Models, Animal; Humans; Mice; Models, Biological; Neurofibromatosis 1; Neurofibromin 1; Proteomics; RNA Interference | - |
dc.title | Recent developments in neurofibromatosis type 1 | en_US |
dc.type | review | en |
dc.identifier.doi | 10.1097/WCO.0b013e3280895da8 | - |
dc.identifier.pmid | 17351482 | - |
dc.identifier.scopus | 2-s2.0-33947098325 | - |
dc.relation.pages | 135-141 | - |
dc.relation.journalvolume | 20 | - |
dc.relation.journalissue | 2 | - |
item.cerifentitytype | Publications | - |
item.openairetype | review | - |
item.fulltext | no fulltext | - |
item.grantfulltext | none | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
crisitem.author.dept | Neurology-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.orcid | 0000-0001-8732-2448 | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學系 |
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