| pubmed-article:10622252 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C0011849 | lld:lifeskim |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C0020538 | lld:lifeskim |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C0166417 | lld:lifeskim |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C0021655 | lld:lifeskim |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C0205082 | lld:lifeskim |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:10622252 | lifeskim:mentions | umls-concept:C1512032 | lld:lifeskim |
| pubmed-article:10622252 | pubmed:issue | 6764 | lld:pubmed |
| pubmed-article:10622252 | pubmed:dateCreated | 2000-1-10 | lld:pubmed |
| pubmed-article:10622252 | pubmed:abstractText | Thiazolidinediones are a new class of antidiabetic agent that improve insulin sensitivity and reduce plasma glucose and blood pressure in subjects with type 2 diabetes. Although these agents can bind and activate an orphan nuclear receptor, peroxisome proliferator-activated receptor gamma (PPARgamma), there is no direct evidence to conclusively implicate this receptor in the regulation of mammalian glucose homeostasis. Here we report two different heterozygous mutations in the ligand-binding domain of PPARgamma in three subjects with severe insulin resistance. In the PPARgamma crystal structure, the mutations destabilize helix 12 which mediates transactivation. Consistent with this, both receptor mutants are markedly transcriptionally impaired and, moreover, are able to inhibit the action of coexpressed wild-type PPARgamma in a dominant negative manner. In addition to insulin resistance, all three subjects developed type 2 diabetes mellitus and hypertension at an unusually early age. Our findings represent the first germline loss-of-function mutations in PPARgamma and provide compelling genetic evidence that this receptor is important in the control of insulin sensitivity, glucose homeostasis and blood pressure in man. | lld:pubmed |
| pubmed-article:10622252 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10622252 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10622252 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10622252 | pubmed:issn | 0028-0836 | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:WilliamsT DTD | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:LewisHH | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:SoosM AMA | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:AgostiniMM | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:O'RahillySS | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:SchaferA JAJ | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:ChatterjeeV... | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:BarrosoII | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:SchwabeJ WJW | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:GurnellMM | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:MaslenG LGL | lld:pubmed |
| pubmed-article:10622252 | pubmed:author | pubmed-author:CrowleyV EVE | lld:pubmed |
| pubmed-article:10622252 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10622252 | pubmed:volume | 402 | lld:pubmed |
| pubmed-article:10622252 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10622252 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10622252 | pubmed:pagination | 880-3 | lld:pubmed |
| pubmed-article:10622252 | pubmed:dateRevised | 2009-9-29 | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:meshHeading | pubmed-meshheading:10622252... | lld:pubmed |
| pubmed-article:10622252 | pubmed:articleTitle | Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. | lld:pubmed |
| pubmed-article:10622252 | pubmed:affiliation | Incyte Europe Ltd, Cambridge, UK. | lld:pubmed |
| pubmed-article:10622252 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10622252 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:5468 | entrezgene:pubmed | pubmed-article:10622252 | lld:entrezgene |
| entrez-gene:25664 | entrezgene:pubmed | pubmed-article:10622252 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10622252 | lld:pubmed |
