Source:http://linkedlifedata.com/resource/pubmed/id/20544546
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4-6
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pubmed:dateCreated |
2010-6-14
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pubmed:abstractText |
Mutations in the uromodulin gene cause the autosomal disorders familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease type 2 (MCKD2). However, methods to detect the mutant form of the uromodulin protein have not been developed. In this study, we developed a liquid chromatography-mass spectrometry (LC-MS) method for detection of the mutated uromodulin peptide (C148W). Our method can distinguish the mutant peptide, GWHWE, from wildtype peptide, GWHC*E. Using MS/MS analysis with a selected reaction monitoring (SRM) mode, peptide-specific fragment ions (m/z 714 --> 381, 471, 567, and 679 for GWHWE and m/z 688 --> 381, 445, 541, and 653 for GWHC*E) were detected.
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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 |
Jun
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pubmed:issn |
1532-2335
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
515-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:20544546-Chromatography, Liquid,
pubmed-meshheading:20544546-DNA Mutational Analysis,
pubmed-meshheading:20544546-Humans,
pubmed-meshheading:20544546-Mucoproteins,
pubmed-meshheading:20544546-Mutant Proteins,
pubmed-meshheading:20544546-Tandem Mass Spectrometry,
pubmed-meshheading:20544546-Uromodulin
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pubmed:year |
2010
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pubmed:articleTitle |
Development of LC-MS method for detection of mutant uromodulin protein.
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pubmed:affiliation |
Laboratory of Analytical Chemistry, School of Pharmaceutical Sciences, Teikyo University, Kanagawa, Japan. myasuda@pharm.teikyo-u.ac.jp
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pubmed:publicationType |
Journal Article
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