| pubmed-article:16511605 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16511605 | lifeskim:mentions | umls-concept:C0241888 | lld:lifeskim |
| pubmed-article:16511605 | lifeskim:mentions | umls-concept:C0391690 | lld:lifeskim |
| pubmed-article:16511605 | lifeskim:mentions | umls-concept:C0349588 | lld:lifeskim |
| pubmed-article:16511605 | lifeskim:mentions | umls-concept:C0441655 | lld:lifeskim |
| pubmed-article:16511605 | lifeskim:mentions | umls-concept:C1517945 | lld:lifeskim |
| pubmed-article:16511605 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:16511605 | pubmed:dateCreated | 2006-3-2 | lld:pubmed |
| pubmed-article:16511605 | pubmed:abstractText | The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a family of synthetic molecules endowed with GH release properties. As shown recently through in vitro means, this receptor displays a constitutive activity whose clinical relevance is unknown. Although pharmacological studies have demonstrated that its endogenous ligand--ghrelin--stimulates, through the GHSR, GH secretion and appetite, the physiological importance of the GHSR-dependent pathways remains an open question that gives rise to much controversy. We report the identification of a GHSR missense mutation that segregates with short stature within 2 unrelated families. This mutation, which results in decreased cell-surface expression of the receptor, selectively impairs the constitutive activity of the GHSR, while preserving its ability to respond to ghrelin. This first description, to our knowledge, of a functionally significant GHSR mutation, which unveils the critical importance of the GHSR-associated constitutive activity, discloses an unusual pathogenic mechanism of growth failure in humans. | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16511605 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:16511605 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16511605 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16511605 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:16511605 | pubmed:issn | 0021-9738 | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:EpelbaumJacqu... | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:AmselemSergeS | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:Le BoucYvesY | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:CabrolSylvieS | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:HilalLatifaL | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:HajajiYassirY | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:PantelJacques... | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:MorissetSéver... | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:LegendreMarie... | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:GrouselleDomi... | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:NivotSylvieS | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:Vie-LutonMari... | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:de... | lld:pubmed |
| pubmed-article:16511605 | pubmed:author | pubmed-author:KadiriAbdelkr... | lld:pubmed |
| pubmed-article:16511605 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16511605 | pubmed:volume | 116 | lld:pubmed |
| pubmed-article:16511605 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16511605 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16511605 | pubmed:pagination | 760-8 | lld:pubmed |
| pubmed-article:16511605 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:meshHeading | pubmed-meshheading:16511605... | lld:pubmed |
| pubmed-article:16511605 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16511605 | pubmed:articleTitle | Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. | lld:pubmed |
| pubmed-article:16511605 | pubmed:affiliation | INSERM, U654, Centre Hospitalier Universitaire Henri-Mondor, Créteil, France. jacques.pantel@im3.inserm.fr | lld:pubmed |
