| pubmed-article:16459991 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16459991 | lifeskim:mentions | umls-concept:C1266184 | lld:lifeskim |
| pubmed-article:16459991 | lifeskim:mentions | umls-concept:C0086345 | lld:lifeskim |
| pubmed-article:16459991 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:16459991 | pubmed:dateCreated | 2006-2-7 | lld:pubmed |
| pubmed-article:16459991 | pubmed:abstractText | Rhabdoid tumors are extremely aggressive malignancies that generally occur in infants and young children. The most common locations are the kidney and central nervous system (atypical teratoid/rhabdoid tumor [RT]), although RTs can also arise in most soft-tissue sites. Rhabdoid tumors in all anatomical locations have a similar molecular origin. Mutation or deletion of both copies of the hSNF5/INI1 gene that maps to chromosome band 22q11.2 is observed in approximately 70% of primary tumors. An additional 20 to 25% of tumors have reduced expression at the RNA or protein level, indicative of a loss-of-function event. The INI1 protein is a component of the SWI/SNF chromatin remodeling complex. The complex is recruited to promoters of a large variety of genes involved in cell signaling, growth, and differentiation. This review summarizes what is currently known regarding the molecular genetics of RTs. | lld:pubmed |
| pubmed-article:16459991 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16459991 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16459991 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16459991 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:16459991 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16459991 | pubmed:issn | 1092-0684 | lld:pubmed |
| pubmed-article:16459991 | pubmed:author | pubmed-author:BiegelJaclyn... | lld:pubmed |
| pubmed-article:16459991 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:16459991 | pubmed:volume | 20 | lld:pubmed |
| pubmed-article:16459991 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16459991 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16459991 | pubmed:pagination | E11 | lld:pubmed |
| pubmed-article:16459991 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:16459991 | pubmed:meshHeading | pubmed-meshheading:16459991... | lld:pubmed |
| pubmed-article:16459991 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16459991 | pubmed:articleTitle | Molecular genetics of atypical teratoid/rhabdoid tumor. | lld:pubmed |
| pubmed-article:16459991 | pubmed:affiliation | Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. biegel@mail.med.upenn.edu | lld:pubmed |
| pubmed-article:16459991 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16459991 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:16459991 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:16459991 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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