Source:http://linkedlifedata.com/resource/pubmed/id/20926595
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2010-12-14
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pubmed:abstractText |
Three syndromes affecting the thyroid gland are described in the literature separately: familial nonautoimmune hyperthyroidism, sporadic congenital nonautoimmune hyperthyroidism, and autonomous adenomas. Recent studies have shown that these three syndromes are caused by similar activating mutations of the TSH receptor gene (TSHR), and that the consequences of these mutations on the physiology and gene expression of the thyroid are qualitatively, but not quantitatively, similar. The three syndromes and two suggested unrecognized variants are in fact facets of the same disease, genetic hyperthyroidism due to TSHR mutations, the expression of which depends on the intensity of activation, its timing, and on the number of affected cells.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1479-683X
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
164
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1-9
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pubmed:meshHeading |
pubmed-meshheading:20926595-Adenoma,
pubmed-meshheading:20926595-Gene Expression Regulation,
pubmed-meshheading:20926595-Germ-Line Mutation,
pubmed-meshheading:20926595-Humans,
pubmed-meshheading:20926595-Hyperthyroidism,
pubmed-meshheading:20926595-Mutation,
pubmed-meshheading:20926595-Phenotype,
pubmed-meshheading:20926595-Receptors, Thyrotropin,
pubmed-meshheading:20926595-Signal Transduction,
pubmed-meshheading:20926595-Thyroid Hormones,
pubmed-meshheading:20926595-Thyroid Neoplasms
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pubmed:year |
2011
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pubmed:articleTitle |
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
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pubmed:affiliation |
School of Medicine, Institute of Interdisciplinary Research (IRIBHM), Free University of Brussels, Campus Erasme, Route de Lennik 808, B-1070 Brussels, Belgium.
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pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
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