| pubmed-article:21536738 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:21536738 | lifeskim:mentions | umls-concept:C0021761 | lld:lifeskim |
| pubmed-article:21536738 | lifeskim:mentions | umls-concept:C0023452 | lld:lifeskim |
| pubmed-article:21536738 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:21536738 | lifeskim:mentions | umls-concept:C1334123 | lld:lifeskim |
| pubmed-article:21536738 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:21536738 | pubmed:dateCreated | 2011-5-10 | lld:pubmed |
| pubmed-article:21536738 | pubmed:abstractText | Interleukin-7 receptor ? (IL7R) is required for normal lymphoid development. Loss-of-function mutations in this gene cause autosomal recessive severe combined immune deficiency. Here, we describe somatic gain-of-function mutations in IL7R in pediatric B and T acute lymphoblastic leukemias. The mutations cause either a serine-to-cysteine substitution at amino acid 185 in the extracellular domain (4 patients) or in-frame insertions and deletions in the transmembrane domain (35 patients). In B cell precursor leukemias, the mutations were associated with the aberrant expression of cytokine receptor-like factor 2 (CRLF2), and the mutant IL-7R proteins formed a functional receptor with CRLF2 for thymic stromal lymphopoietin (TSLP). Biochemical and functional assays reveal that these IL7R mutations are activating mutations conferring cytokine-independent growth of progenitor lymphoid cells. A cysteine, included in all but three of the mutated IL-7R alleles, is essential for the constitutive activation of the receptor. This is the first demonstration of gain-of-function mutations of IL7R. Our current and recent observations of mutations in IL7R and CRLF2, respectively suggest that the addition of cysteine to the juxtamembranous domains is a general mechanism for mutational activation of type I cytokine receptors in leukemia. | lld:pubmed |
| pubmed-article:21536738 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21536738 | pubmed:language | eng | lld:pubmed |
| pubmed-article:21536738 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21536738 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:21536738 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21536738 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21536738 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21536738 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21536738 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21536738 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21536738 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:21536738 | pubmed:month | May | lld:pubmed |
| pubmed-article:21536738 | pubmed:issn | 1540-9538 | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:KulozikAndrea... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:SchrappeMarti... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:CazzanigaGiov... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:BiondiAndreaA | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:BassoGiuseppe... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:BercovichDani... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:StanullaMarti... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:IzraeliShaiS | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:CarioGunnarG | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:PalmiChiaraC | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:MuckenthalerM... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:te... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:ShochatChenC | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:GanmoreIthama... | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:TalNoaN | lld:pubmed |
| pubmed-article:21536738 | pubmed:author | pubmed-author:BandapalliObu... | lld:pubmed |
| pubmed-article:21536738 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:21536738 | pubmed:day | 9 | lld:pubmed |
| pubmed-article:21536738 | pubmed:volume | 208 | lld:pubmed |
| pubmed-article:21536738 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:21536738 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:21536738 | pubmed:pagination | 901-8 | lld:pubmed |
| pubmed-article:21536738 | pubmed:dateRevised | 2011-11-9 | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:meshHeading | pubmed-meshheading:21536738... | lld:pubmed |
| pubmed-article:21536738 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:21536738 | pubmed:articleTitle | Gain-of-function mutations in interleukin-7 receptor-? (IL7R) in childhood acute lymphoblastic leukemias. | lld:pubmed |
| pubmed-article:21536738 | pubmed:affiliation | Childhood Leukemia Research Institute and Department of Pediatric Hemato-Oncology, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel. | lld:pubmed |
| pubmed-article:21536738 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:21536738 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:3575 | entrezgene:pubmed | pubmed-article:21536738 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:21536738 | lld:entrezgene |
