Source:http://linkedlifedata.com/resource/pubmed/id/20472658
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
8
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pubmed:dateCreated |
2010-7-26
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pubmed:abstractText |
Schwannomas and meningiomas are both part of the tumour spectrum of neurofibromatosis type 2 (NF2) and are associated with somatic loss of chromosome 22. They are also found commonly within the general population, unrelated to NF2. Germline SMARCB1 mutations have recently been identified as a pathogenic cause of a subset of familial schwannomatosis cases, and SMARCB1 is a candidate gene for causation of both schwannomas and meningiomas. Recently, Bacci et al reported a germline SMARCB1 mutation associated with familial schwannomatosis and multiple meningiomas. They concluded that SMARCB1 mutations can predispose to multiple meningiomas.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Chromosomal Proteins, Non-Histone,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/SMARCB1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1468-6244
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
567-8
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pubmed:meshHeading |
pubmed-meshheading:20472658-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:20472658-DNA-Binding Proteins,
pubmed-meshheading:20472658-Humans,
pubmed-meshheading:20472658-Meningeal Neoplasms,
pubmed-meshheading:20472658-Meningioma,
pubmed-meshheading:20472658-Mutation,
pubmed-meshheading:20472658-Transcription Factors
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pubmed:year |
2010
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pubmed:articleTitle |
SMARCB1 mutations are not a common cause of multiple meningiomas.
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pubmed:affiliation |
Department of Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St Mary's Hospital, University of Manchester, Manchester M13 9WL, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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