Source:http://linkedlifedata.com/resource/pubmed/id/17973943
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2008-3-14
|
| pubmed:abstractText |
Hereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential. Recently, however, malignant PGLs were also reported among a small minority of Dutch carriers of the SDHD founder mutation D92Y. The aim of the study was to investigate which SDHD mutations are associated with malignant PGL.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
1365-2265
|
| pubmed:author |
pubmed-author:BertheratJérômeJ,
pubmed-author:BurnichonNellyN,
pubmed-author:DuetMichèleM,
pubmed-author:EisenhoferGraemeG,
pubmed-author:Gimenez-RoqueploAnne-PauleAP,
pubmed-author:LendersJacques W MJW,
pubmed-author:Niccoli-SirePatriciaP,
pubmed-author:PacakKarelK,
pubmed-author:StratakisConstantine ACA,
pubmed-author:TimmersHenri J L MHJ,
pubmed-author:TranBa Huy PatriceBH
|
| pubmed:issnType |
Electronic
|
| pubmed:volume |
68
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
561-6
|
| pubmed:dateRevised |
2009-11-3
|
| pubmed:meshHeading |
pubmed-meshheading:17973943-Adult,
pubmed-meshheading:17973943-Female,
pubmed-meshheading:17973943-Humans,
pubmed-meshheading:17973943-Male,
pubmed-meshheading:17973943-Mutation,
pubmed-meshheading:17973943-Nervous System Neoplasms,
pubmed-meshheading:17973943-Paraganglioma,
pubmed-meshheading:17973943-Succinate Dehydrogenase
|
| pubmed:year |
2008
|
| pubmed:articleTitle |
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.
|
| pubmed:affiliation |
Reproductive Biology and Adult Endocrinology Program, National Institutes of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1109, USA. h.timmers@endo.umcn.nl
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Intramural
|