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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0025267,
umls-concept:C0330390,
umls-concept:C0679058,
umls-concept:C1283195,
umls-concept:C1332838,
umls-concept:C1520381,
umls-concept:C1547699,
umls-concept:C1704708,
umls-concept:C1711351,
umls-concept:C1953345,
umls-concept:C2700640,
umls-concept:C2828389
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pubmed:issue |
3-4
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pubmed:dateCreated |
1997-9-25
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pubmed:abstractText |
The multiple endocrine neoplasia type 1 (MEN1) locus has been previously localised to 11q13 by combined tumour deletion mapping and recombination studies, and a 0.5-Mb region, flanked by PYGM and D11S449, has been defined. In the course of constructing a conting, we have identified the location of the gene encoding the B56 beta subunit of protein phosphatase 2A (PP2A), which is involved in cell signal transduction pathways and thus represents a candidate gene for MEN1. We have searched for mutations in the PP2A-B56 beta coding region, together with the 5' and 3' untranslated regions in six MEN1 patients. DNA sequence abnormalities were not identified and thus the PP2A-B56 beta gene is excluded as the candidate gene for MEN1. However, our precise localisation of PP2A-B56 beta to this region of 11q13 may help in elucidating the basis for other disease genes mapping to this generich region.
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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 |
Sep
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pubmed:issn |
0340-6717
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pubmed:author |
pubmed-author:AnandRR,
pubmed-author:BassettJ HJH,
pubmed-author:ButlerRR,
pubmed-author:CalenderAA,
pubmed-author:ForbesS ASA,
pubmed-author:GaudrayPP,
pubmed-author:HöppenerJ WJW,
pubmed-author:HardingBB,
pubmed-author:KanNN,
pubmed-author:LarssonCC,
pubmed-author:LipsC JCJ,
pubmed-author:OgilvieDD,
pubmed-author:PannettA AAA,
pubmed-author:ThakkerR VRV,
pubmed-author:WeberGG,
pubmed-author:WoodingCC,
pubmed-author:ZhangC XCX
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pubmed:issnType |
Print
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pubmed:volume |
100
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
481-5
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:9272177-Chromosome Mapping,
pubmed-meshheading:9272177-Chromosomes, Artificial, Yeast,
pubmed-meshheading:9272177-Chromosomes, Human, Pair 11,
pubmed-meshheading:9272177-Gene Library,
pubmed-meshheading:9272177-Humans,
pubmed-meshheading:9272177-Multiple Endocrine Neoplasia Type 1,
pubmed-meshheading:9272177-Neoplasm Proteins,
pubmed-meshheading:9272177-Phosphoprotein Phosphatases,
pubmed-meshheading:9272177-Protein Phosphatase 2,
pubmed-meshheading:9272177-Proto-Oncogene Proteins
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pubmed:year |
1997
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pubmed:articleTitle |
Mapping of the gene encoding the B56 beta subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (MEN1).
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pubmed:affiliation |
MRC Molecular Endocrinology Group, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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