Source:http://linkedlifedata.com/resource/pubmed/id/19005330
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2008-11-13
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pubmed:abstractText |
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder involving benign growths in multiple organ systems of affected patients. Variable phenotypes from mild to severe have been reported for related as well as unrelated patients affected by TSC. The two causative genes, TSC1 and TSC2, which code for hamartin and tuberin respectively, play central roles in regulating cell survival and proliferation signaling pathways. The severity of disease phenotypes of TSC patients is influenced by the activities of genes both up and down-stream in the associated pathways.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1531-698X
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
628-33
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pubmed:meshHeading | |
pubmed:year |
2008
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pubmed:articleTitle |
Tuberous sclerosis complex: disease modifiers and treatments.
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pubmed:affiliation |
Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA.
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pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
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