{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T03:11:01Z","timestamp":1789528261003,"version":"build-2803163510"},"reference-count":54,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2010,11,18]],"date-time":"2010-11-18T00:00:00Z","timestamp":1290038400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1001212","type":"journal-article","created":{"date-parts":[[2010,11,18]],"date-time":"2010-11-18T21:55:13Z","timestamp":1290117313000},"page":"e1001212","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":98,"title":["Altered DNA Methylation in Leukocytes with Trisomy 21"],"prefix":"10.1371","volume":"6","author":[{"given":"Kristi","family":"Kerkel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Schupf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kota","family":"Hatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Pang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha","family":"Salas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Kratz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Minden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vundavalli","family":"Murty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren B.","family":"Zigman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Mayeux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmund C.","family":"Jenkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Torkamani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.","family":"Schork","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayne","family":"Silverman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. Anne","family":"Croy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Tycko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2010,11,18]]},"reference":[{"key":"ref1","first-page":"1721","article-title":"Study of somatic chromosomes from 9 mongoloid children.","volume":"248","author":"J Lejeune","year":"1959","journal-title":"C R Hebd Seances Acad Sci"},{"key":"ref2","first-page":"256","article-title":"Mongolism; a chromosomal disease (trisomy).","volume":"143","author":"J Lejeune","year":"1959","journal-title":"Bull Acad Natl Med"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"R75","DOI":"10.1093\/hmg\/ddp010","article-title":"Down syndrome\u2014recent progress and future prospects.","volume":"18","author":"FK Wiseman","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.molmed.2006.08.005","article-title":"The challenge of Down syndrome.","volume":"12","author":"SE Antonarakis","year":"2006","journal-title":"Trends Mol Med"},{"issue":"Pt 6","key":"ref5","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1111\/j.1365-2788.1993.tb00324.x","article-title":"Immunological features of Down&apos;s syndrome: a review.","volume":"37","author":"L Nespoli","year":"1993","journal-title":"J Intellect Disabil Res"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1136\/adc.79.3.242","article-title":"Thyroid dysfunction in Down&apos;s syndrome: relation to age and thyroid autoimmunity.","volume":"79","author":"B Karlsson","year":"1998","journal-title":"Arch Dis Child"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1136\/bmj.1.5951.191","article-title":"Alopecia areata, autoimmunity, and Down&apos;s syndrome.","volume":"1","author":"A Du Vivier","year":"1975","journal-title":"Br Med J"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"3185","DOI":"10.2337\/db06-0856","article-title":"Islet autoimmunity in children with Down&apos;s syndrome.","volume":"55","author":"KM Gillespie","year":"2006","journal-title":"Diabetes"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/1096-8628(20010101)98:1<70::AID-AJMG1002>3.0.CO;2-G","article-title":"Prevalence and clinical characteristics of celiac disease in Downs syndrome in a US study.","volume":"98","author":"L Book","year":"2001","journal-title":"Am J Med Genet"},{"key":"ref10","first-page":"417","article-title":"Macrocytosis in Down syndrome.","volume":"95","author":"TJ Wachtel","year":"1991","journal-title":"Am J Ment Retard"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"2538","DOI":"10.1093\/humrep\/dem214","article-title":"Genome-wide expression analysis of cultured trophoblast with trisomy 21 karyotype.","volume":"22","author":"U Rozovski","year":"2007","journal-title":"Hum Reprod"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1086\/519248","article-title":"Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.","volume":"81","author":"P Prandini","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/1471-2350-7-24","article-title":"Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.","volume":"7","author":"CM Li","year":"2006","journal-title":"BMC Med Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"R107","DOI":"10.1186\/gb-2005-6-13-r107","article-title":"Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart.","volume":"6","author":"R Mao","year":"2005","journal-title":"Genome Biol"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1046\/j.1529-8817.2003.00123.x","article-title":"Gene expression profile analysis in human T lymphocytes from patients with Down Syndrome.","volume":"68","author":"S Giannone","year":"2004","journal-title":"Ann Hum Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1038\/ng.174","article-title":"Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation.","volume":"40","author":"K Kerkel","year":"2008","journal-title":"Nat Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S1521-6616(03)00203-1","article-title":"Age-related epigenetic changes and the immune system.","volume":"109","author":"JP Issa","year":"2003","journal-title":"Clin Immunol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.jpeds.2005.07.022","article-title":"Intrinsic abnormalities of lymphocyte counts in children with down syndrome.","volume":"147","author":"YC de Hingh","year":"2005","journal-title":"J Pediatr"},{"key":"ref19","first-page":"220","article-title":"Lymphocyte subpopulations in Down&apos;s syndrome: high percentage of circulating HNK-1+, Leu 2a+ cells.","volume":"57","author":"R Maccario","year":"1984","journal-title":"Clin Exp Immunol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1136\/adc.67.5.628","article-title":"Abnormal serum IgG subclass pattern in children with Down&apos;s syndrome.","volume":"67","author":"G Anneren","year":"1992","journal-title":"Arch Dis Child"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1097\/00006454-199008000-00004","article-title":"Immunoglobulin G subclass deficiency and predisposition to infection in Down&apos;s syndrome.","volume":"9","author":"RK Loh","year":"1990","journal-title":"Pediatr Infect Dis J"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1182\/blood.V77.6.1263.1263","article-title":"Age-related expansion of functionally inefficienT-cells with markers of natural killer activity in Down&apos;s syndrome.","volume":"77","author":"A Cossarizza","year":"1991","journal-title":"Blood"},{"issue":"Pt 3","key":"ref23","first-page":"193","article-title":"Analysis of blood cell populations, plasma zinc and natural killer cell activity in young children with Down&apos;s syndrome.","volume":"32","author":"RL Noble","year":"1988","journal-title":"J Ment Defic Res"},{"key":"ref24","first-page":"373","article-title":"Immune defects in subjects with dysmorphic disorders.","volume":"26","author":"SA Mahmoud","year":"2005","journal-title":"Allergy Asthma Proc"},{"key":"ref25","first-page":"735","article-title":"Natural killer cell function in trisomy-21 (Down&apos;s syndrome).","volume":"47","author":"T Nurmi","year":"1982","journal-title":"Clin Exp Immunol"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"6547","DOI":"10.4049\/jimmunol.173.11.6547","article-title":"Novel insights on human NK cells&apos; immunological modalities revealed by gene expression profiling.","volume":"173","author":"J Hanna","year":"2004","journal-title":"J Immunol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"R103","DOI":"10.1093\/hmg\/ddl179","article-title":"New techniques to understand chromosome dosage: mouse models of aneuploidy.","volume":"2","author":"VL Tybulewicz","year":"2006","journal-title":"Hum Mol Genet 15 Spec No"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.bbrc.2006.08.038","article-title":"Quantitative methylation-sensitive arbitrarily primed PCR method to determine differential genomic DNA methylation in Down Syndrome.","volume":"349","author":"A Chango","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<147::AID-AJMG5>3.0.CO;2-M","article-title":"Increased low-level chromosome 21 mosaicism in older individuals with Down syndrome.","volume":"68","author":"EC Jenkins","year":"1997","journal-title":"Am J Med Genet"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1002\/ajmg.1320450513","article-title":"Age-associated chromosome 21 loss in Down syndrome: possible relevance to mosaicism and Alzheimer disease.","volume":"45","author":"ME Percy","year":"1993","journal-title":"Am J Med Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1399-0004.1980.tb00159.x","article-title":"Decreasing mosaicism in Down&apos;s syndrome.","volume":"17","author":"MG Wilson","year":"1980","journal-title":"Clin Genet"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/j.crvi.2006.06.004","article-title":"The growth capacity of bone marrow CD34 positive cells in culture is drastically reduced in a murine model of Down syndrome.","volume":"329","author":"B Jablonska","year":"2006","journal-title":"C R Biol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1182\/blood-2008-06-161422","article-title":"Hematopoietic defects in the Ts1Cje mouse model of Down syndrome.","volume":"113","author":"CL Carmichael","year":"2009","journal-title":"Blood"},{"key":"ref34","article-title":"Perturbed hematopoiesis in the Tc1 mouse model of Down Syndrome.","author":"K Alford","journal-title":"Blood"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"421","DOI":"10.4049\/jimmunol.179.1.421","article-title":"Molecular dissection of prethymic progenitor entry into the T lymphocyte developmental pathway.","volume":"179","author":"CC Tydell","year":"2007","journal-title":"J Immunol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S1074-7613(00)80118-1","article-title":"Clonal acquisition of the Ly49A NK cell receptor is dependent on the trans-acting factor TCF-1.","volume":"11","author":"W Held","year":"1999","journal-title":"Immunity"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"6181","DOI":"10.4049\/jimmunol.166.10.6181","article-title":"Positive and negative roles of the trans-acting T cell factor-1 for the acquisition of distinct Ly-49 MHC class I receptors by NK cells.","volume":"166","author":"B Kunz","year":"2001","journal-title":"J Immunol"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"769","DOI":"10.4049\/jimmunol.171.2.769","article-title":"Initiation and limitation of Ly-49A NK cell receptor acquisition by T cell factor-1.","volume":"171","author":"V Ioannidis","year":"2003","journal-title":"J Immunol"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1182\/blood-2007-10-120261","article-title":"Core binding factors are necessary for natural killer cell development and cooperate with Notch signaling during T-cell specification.","volume":"112","author":"Y Guo","year":"2008","journal-title":"Blood"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"7247","DOI":"10.4049\/jimmunol.0901479","article-title":"The pathogen recognition receptor NOD2 regulates human FOXP3+ T cell survival.","volume":"184","author":"MK Rahman","year":"2010","journal-title":"J Immunol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"3109","DOI":"10.1128\/MCB.01014-06","article-title":"The 3BP2 adapter protein is required for optimal B-cell activation and thymus-independent type 2 humoral response.","volume":"8","author":"G Chen","year":"2007","journal-title":"Mol Cell Biol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/ncb1592","article-title":"The lymphocyte function-associated antigen-1 receptor costimulates plasma membrane Ras via phospholipase D2.","volume":"9","author":"A Mor","year":"2007","journal-title":"Nat Cell Biol"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"20444","DOI":"10.1016\/S0021-9258(19)88722-7","article-title":"Regulation of translation initiation factor gene expression during human T cell activation.","volume":"267","author":"X Mao","year":"1992","journal-title":"J Biol Chem"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"4892","DOI":"10.1182\/blood-2007-11-125039","article-title":"CCL5-mediated T-cell chemotaxis involves the initiation of mRNA translation through mTOR\/4E-BP1.","volume":"111","author":"TT Murooka","year":"2008","journal-title":"Blood"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"3048","DOI":"10.1101\/gad.1153003","article-title":"SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression.","volume":"17","author":"G Dobreva","year":"2003","journal-title":"Genes Dev"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"28257","DOI":"10.1074\/jbc.M403153200","article-title":"Dual role of sumoylation in the nuclear localization and transcriptional activation of NFAT1.","volume":"279","author":"Y Terui","year":"2004","journal-title":"J Biol Chem"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"5983","DOI":"10.4049\/jimmunol.180.9.5983","article-title":"SUMOylation regulates the transcriptional activity of JunB in T lymphocytes.","volume":"180","author":"J Garaude","year":"2008","journal-title":"J Immunol"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.gene.2004.08.020","article-title":"Functional analysis of the NPDC-1 gene.","volume":"343","author":"C Evrard","year":"2004","journal-title":"Gene"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"9900","DOI":"10.1158\/0008-5472.CAN-08-1319","article-title":"Global hypomethylation of genomic DNA in cancer-associated myofibroblasts.","volume":"68","author":"L Jiang","year":"2008","journal-title":"Cancer Res"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1158\/0008-5472.CAN-05-3739","article-title":"A single nucleotide polymorphism chip-based method for combined genetic and epigenetic profiling: validation in decitabine therapy and tumor\/normal comparisons.","volume":"66","author":"E Yuan","year":"2006","journal-title":"Cancer Res"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1093\/bioinformatics\/bth069","article-title":"dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data.","volume":"20","author":"M Lin","year":"2004","journal-title":"Bioinformatics"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1093\/bioinformatics\/18.11.1427","article-title":"MethPrimer: designing primers for methylation PCRs.","volume":"18","author":"LC Li","year":"2002","journal-title":"Bioinformatics"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.","volume":"25","author":"KJ Livak","year":"2001","journal-title":"Methods"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.placenta.2009.04.001","article-title":"NK cells detect changes in adaptive immunity within mouse decidua from gestation day eight.","volume":"30","author":"K Hatta","year":"2009","journal-title":"Placenta"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1001212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T09:45:17Z","timestamp":1711964717000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1001212"}},"subtitle":[],"editor":[{"given":"Dirk","family":"Sch\u00fcbeler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2010,11,18]]},"references-count":54,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2010,11,18]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1001212","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,18]]}}}