| pubmed-article:19667185 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19667185 | lifeskim:mentions | umls-concept:C0011860 | lld:lifeskim |
| pubmed-article:19667185 | lifeskim:mentions | umls-concept:C1332419 | lld:lifeskim |
| pubmed-article:19667185 | lifeskim:mentions | umls-concept:C1969875 | lld:lifeskim |
| pubmed-article:19667185 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:19667185 | lifeskim:mentions | umls-concept:C1708726 | lld:lifeskim |
| pubmed-article:19667185 | lifeskim:mentions | umls-concept:C1704666 | lld:lifeskim |
| pubmed-article:19667185 | lifeskim:mentions | umls-concept:C1517892 | lld:lifeskim |
| pubmed-article:19667185 | lifeskim:mentions | umls-concept:C0208973 | lld:lifeskim |
| pubmed-article:19667185 | pubmed:issue | 34 | lld:pubmed |
| pubmed-article:19667185 | pubmed:dateCreated | 2009-8-26 | lld:pubmed |
| pubmed-article:19667185 | pubmed:abstractText | Maturity-onset diabetes of the young (MODY) is a subtype of diabetes defined by an autosomal pattern of inheritance and a young age at onset, often before age 25. MODY is genetically heterogeneous, with 8 distinct MODY genes identified to date and more believed to exist. We resequenced 732 kb of genomic sequence at 8p23 in 6 MODY families unlinked to known MODY genes that showed evidence of linkage at that location. Of the 410 sequence differences that we identified, 5 had a frequency <1% in the general population and segregated with diabetes in 3 of the families, including the 2 showing the strongest support for linkage at this location. The 5 mutations were all placed within 100 kb corresponding to the BLK gene. One resulted in an Ala71Thr substitution; the other 4 were noncoding and determined decreased in vitro promoter activity in reporter gene experiments. We found that BLK--a nonreceptor tyrosine-kinase of the src family of proto-oncogenes--is expressed in beta-cells where it enhances insulin synthesis and secretion in response to glucose by up-regulating transcription factors Pdx1 and Nkx6.1. These actions are greatly attenuated by the Ala71Thr mutation. These findings point to BLK as a previously unrecognized modulator of beta-cell function, the deficit of which may lead to the development of diabetes. | lld:pubmed |
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| pubmed-article:19667185 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19667185 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19667185 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19667185 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:19667185 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19667185 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:19667185 | pubmed:issn | 1091-6490 | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:RichStephen... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:SharmaArunA | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:Bonner-WeirSu... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:Boonyasrisawa... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:MarselliLorel... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:KulkarniRohit... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:KrolewskiAndr... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:DoriaAlessand... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:HuJiangJ | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:KimSung-HoonS... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:MychaleckyjJo... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:BorowiecMacie... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:MlynarskiWojc... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:SalaMichelaM | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:El... | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:ThompsonRyanR | lld:pubmed |
| pubmed-article:19667185 | pubmed:author | pubmed-author:LiewChong WCW | lld:pubmed |
| pubmed-article:19667185 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19667185 | pubmed:day | 25 | lld:pubmed |
| pubmed-article:19667185 | pubmed:volume | 106 | lld:pubmed |
| pubmed-article:19667185 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19667185 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19667185 | pubmed:pagination | 14460-5 | lld:pubmed |
| pubmed-article:19667185 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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