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rdf:type |
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lifeskim:mentions |
umls-concept:C0020792,
umls-concept:C0041341,
umls-concept:C0205147,
umls-concept:C0205245,
umls-concept:C0205360,
umls-concept:C0237401,
umls-concept:C0332285,
umls-concept:C0599155,
umls-concept:C0694894,
umls-concept:C0936012,
umls-concept:C1514873,
umls-concept:C1546857,
umls-concept:C1556066,
umls-concept:C1619636
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pubmed:dateCreated |
2009-9-29
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pubmed:abstractText |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR). Recently it has been shown that missense mutations to the TSC1 gene can cause TSC.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-10205261,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-10385849,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-10493868,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-10533067,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-10585443,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-11112665,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-11875032,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-1438297,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-14729330,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-15483652,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-15798777,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-15977173,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-16636147,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-16824020,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-17304050,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-18291711,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-18302728,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-18397877,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-18466115,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-18830229,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-18854862,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-18988827,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-4843792,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-8269512,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-9242607,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-9580671,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19747374-9789328
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2350
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
88
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19747374-Amino Acid Substitution,
pubmed-meshheading:19747374-Cell Line,
pubmed-meshheading:19747374-Humans,
pubmed-meshheading:19747374-Microscopy, Fluorescence,
pubmed-meshheading:19747374-Mutation, Missense,
pubmed-meshheading:19747374-Protein Kinases,
pubmed-meshheading:19747374-Signal Transduction,
pubmed-meshheading:19747374-TOR Serine-Threonine Kinases,
pubmed-meshheading:19747374-Tuberous Sclerosis,
pubmed-meshheading:19747374-Tumor Suppressor Proteins
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pubmed:year |
2009
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pubmed:articleTitle |
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
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pubmed:affiliation |
Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. m.mozaffari@erasmusmc.nl
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, N.I.H., Extramural
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