<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Pansuriya, Twinkal C</style></author><author><style face="normal" font="default" size="100%">van Eijk, Ronald</style></author><author><style face="normal" font="default" size="100%">d'Adamo, Pio</style></author><author><style face="normal" font="default" size="100%">van Ruler, Maayke A J H</style></author><author><style face="normal" font="default" size="100%">Kuijjer, Marieke L</style></author><author><style face="normal" font="default" size="100%">Oosting, Jan</style></author><author><style face="normal" font="default" size="100%">Cleton-Jansen, Anne-Marie</style></author><author><style face="normal" font="default" size="100%">van Oosterwijk, Jolieke G</style></author><author><style face="normal" font="default" size="100%">Verbeke, Sofie L J</style></author><author><style face="normal" font="default" size="100%">Meijer, Daniëlle</style></author><author><style face="normal" font="default" size="100%">van Wezel, Tom</style></author><author><style face="normal" font="default" size="100%">Nord, Karolin H</style></author><author><style face="normal" font="default" size="100%">Sangiorgi, Luca</style></author><author><style face="normal" font="default" size="100%">Toker, Berkin</style></author><author><style face="normal" font="default" size="100%">Liegl-Atzwanger, Bernadette</style></author><author><style face="normal" font="default" size="100%">San-Julian, Mikel</style></author><author><style face="normal" font="default" size="100%">Sciot, Raf</style></author><author><style face="normal" font="default" size="100%">Limaye, Nisha</style></author><author><style face="normal" font="default" size="100%">Kindblom, Lars-Gunnar</style></author><author><style face="normal" font="default" size="100%">Daugaard, Soeren</style></author><author><style face="normal" font="default" size="100%">Godfraind, Catherine</style></author><author><style face="normal" font="default" size="100%">Boon, Laurence M</style></author><author><style face="normal" font="default" size="100%">Vikkula, Miikka</style></author><author><style face="normal" font="default" size="100%">Kurek, Kyle C</style></author><author><style face="normal" font="default" size="100%">Szuhai, Karoly</style></author><author><style face="normal" font="default" size="100%">French, Pim J</style></author><author><style face="normal" font="default" size="100%">Bovée, Judith V M G</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Line, Tumor</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Methylation</style></keyword><keyword><style  face="normal" font="default" size="100%">Enchondromatosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Profiling</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Isocitrate Dehydrogenase</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Mosaicism</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation, Missense</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2011</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2011 Dec</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">43</style></volume><pages><style face="normal" font="default" size="100%">1256-61</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.395G&gt;A encoding an R132H substitution) or IDH2 (c.516G&gt;C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">12</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22057234?dopt=Abstract</style></custom1></record></records></xml>