| http://purl.uniprot.org/citations/22072402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22072402 | http://www.w3.org/2000/01/rdf-schema#comment | "Previous cytogenetic studies of myeloid and acute lymphoblastic leukemias in children with Down syndrome (ML-DS and DS-ALL) have revealed significant differences in abnormality patterns between such cases and acute leukemias in general. Also, certain molecular genetic aberrations characterize DS-related leukemias, such as GATA1 mutations in ML-DS and deregulation of the CRLF2 gene in DS-ALL. Whether microdeletions/microduplications also vary between DS and non-DS cases is presently unclear. To address this issue, we performed single nucleotide polymorphism array analyses of eight pediatric ML-DS and 17 B-cell precursor DS-ALL. In the ML-DS cases, a total of 29 imbalances (20 gains and nine losses) and two partial uniparental isodisomies (pUPDs) were detected. None of the 11 small (defined as <10 Mb) imbalances were recurrent, nor were the pUPDs, whereas of the 18 large aberrations, three were recurrent-dup(1q), +8 and +21. In contrast, several frequent changes were identified in the DS-ALL cases, which harbored 82 imbalances (30 gains and 52 losses) and four pUPDs. Of the 40 large changes, 28 were gains and 12 losses, with +X, dup(Xq), dup(1q), del(7p), dup(8q), del(9p), dup(9p), del(12p), dup(17q), and +21 being recurrent. Of the 40 microdeletions identified, several targeted specific genes, with the following being repeatedly deleted: BTG1 and CDKN2A/B (29% of cases), ETV6, IKZF1, PAX5 and SERP2 (18%), and BTLA, INPP4B, P2RY8, and RB1 (12%). Loss of the SERP2 and INPP4B genes, encoding the stress-associated endoplasmic reticulum protein family member 2 and the inositol polyphosphate 4-phosphatase-II, respectively, has previously never been implicated in leukemia. Although deletions of the other genes have been associated with ALL, the high frequency of BTG1 loss is a novel finding. Such deletions may characterize a clinical subgroup of DS-ALL, comprising mainly boys with a high median age. In conclusion, ML-DS and DS-ALL are genetically distinct, with mainly gains in ML-DS and deletions in DS-ALL. Furthermore, DS-ALL is characterized by several recurrent gene deletions, with BTG1 loss being particularly frequent."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.org/dc/terms/identifier | "doi:10.1002/gcc.20944"xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Lundin C."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Johansson B."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Andersen M.K."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Nordgren A."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Behrendtz M."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Forestier E."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Paulsson K."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Palmqvist L."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Biloglav A."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/author | "Hjorth L."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/name | "Genes Chromosomes Cancer"xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/pages | "196-206"xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/title | "High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome."xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://purl.uniprot.org/core/volume | "51"xsd:string |
| http://purl.uniprot.org/citations/22072402 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22072402 |
| http://purl.uniprot.org/citations/22072402 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22072402 |
| http://purl.uniprot.org/uniprot/#_P62324-mappedCitation-22072402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22072402 |
| http://purl.uniprot.org/uniprot/#_Q6IBC8-mappedCitation-22072402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22072402 |
| http://purl.uniprot.org/uniprot/P62324 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/22072402 |
| http://purl.uniprot.org/uniprot/Q6IBC8 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/22072402 |