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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2009-7-17
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pubmed:abstractText |
A missense mutation in the microtubule-associated serine/threonine-like kinase gene (MASTL, FLJ14813) on human chromosome 10 was previously linked to a novel form of autosomal dominant inherited thrombocytopenia in a single pedigree. The mutation results in an amino acid change from glutamic acid at position 167 to aspartic acid and segregates perfectly with thrombocytopenic individuals within this extended family. The phenotype is characterized by mild thrombocytopenia with an average platelet count of 60,000 platelets per microliter of blood. We wanted to determine the expression and localization of MASTL, as well as its role in developing thrombocytes using an in vivo model system.
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pubmed:grant |
http://linkedlifedata.com/resource/pubmed/grant/K01 DK073136-01A1,
http://linkedlifedata.com/resource/pubmed/grant/K01-DK073136,
http://linkedlifedata.com/resource/pubmed/grant/P01 HL032262-250017,
http://linkedlifedata.com/resource/pubmed/grant/P01-HL032262,
http://linkedlifedata.com/resource/pubmed/grant/R01 DK070838-01A2,
http://linkedlifedata.com/resource/pubmed/grant/R01 DK070838-05,
http://linkedlifedata.com/resource/pubmed/grant/R01 HL074396-02,
http://linkedlifedata.com/resource/pubmed/grant/R01-DK070838,
http://linkedlifedata.com/resource/pubmed/grant/R01-HL074396-04,
http://linkedlifedata.com/resource/pubmed/grant/T32 HL007623-24,
http://linkedlifedata.com/resource/pubmed/grant/T32-HL07623
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-10521306,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-10606877,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-10891439,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-11497344,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-12095146,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-12364337,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-12482029,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-12890928,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-14504084,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-14758109,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-14970188,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-15354260,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-15561694,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-16109975,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-16600872,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-18199678,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-6886663,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-7795420,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-8111309,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-8589427,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19460416-9154320
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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:month |
Aug
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pubmed:issn |
1873-2399
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
37
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
901-8
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pubmed:dateRevised |
2011-9-26
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pubmed:meshHeading |
pubmed-meshheading:19460416-Animals,
pubmed-meshheading:19460416-Blood Platelets,
pubmed-meshheading:19460416-Cell Count,
pubmed-meshheading:19460416-Cell Lineage,
pubmed-meshheading:19460416-Enzyme Activation,
pubmed-meshheading:19460416-Gene Expression Profiling,
pubmed-meshheading:19460416-Microtubule-Associated Proteins,
pubmed-meshheading:19460416-Mutation, Missense,
pubmed-meshheading:19460416-Platelet Membrane Glycoprotein IIb,
pubmed-meshheading:19460416-Protein-Serine-Threonine Kinases,
pubmed-meshheading:19460416-RNA, Messenger,
pubmed-meshheading:19460416-Receptors, Thrombopoietin,
pubmed-meshheading:19460416-Thrombocytopenia,
pubmed-meshheading:19460416-Zebrafish
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pubmed:year |
2009
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pubmed:articleTitle |
In vivo inactivation of MASTL kinase results in thrombocytopenia.
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pubmed:affiliation |
Puget Sound Blood Center, Seattle, Wash. 98104-1256, USA. janj@psbc.org
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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