| Fibronectin: characterization of a somatic mutation in Sturge-Weber syndrome (SWS). | |
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MedLine Citation:
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PMID: 19359105 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder with a leptomeningeal, facial trigeminal nerve dominative area and choroidal angioma. The cause of this disease remains unclear. Due to the occurrence of localized abnormality of blood vessel formation, somatic mutation has been put forward. Studies have indicated that fibronectin gene expressions in the SWS port-wine-derived fibroblasts are increased. Fibronectin is an important extracellular matrix molecule with key roles in regulating angiogenesis and vasculogenesis, in maintenance of the blood-brain barrier, blood vessel structure and function, as well as brain tissue responses to seizures. This is consistent with the presence of a hypothesized somatic mutation underlying SWS. In this study, we have proposed that fibronectin may be reflection of somatic mutation. Further research should be done to study the role of fibronectin in the pathogenesis of SWS. Understanding the pathophysiology of Sturge-Weber syndrome will help us to establish future neuroprotective strategies and novel treatment modalities. |
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Authors:
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Qin Zhou; Jia Wei Zheng; Xiu Juan Yang; Yan An Wang; Wei Min Ye; Han Guang Zhu; Zhi Yuan Zhang |
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Publication Detail:
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Type: Journal Article Date: 2009-04-08 |
Journal Detail:
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Title: Medical hypotheses Volume: 73 ISSN: 1532-2777 ISO Abbreviation: Med. Hypotheses Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-05-27 Completed Date: 2009-08-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7505668 Medline TA: Med Hypotheses Country: United States |
Other Details:
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Languages: eng Pagination: 199-200 Citation Subset: IM |
Affiliation:
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Department of Oral and Maxillofacial Surgery, Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Fibronectins
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genetics* Gene Expression Humans Mutation* Sturge-Weber Syndrome / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Fibronectins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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