| pubmed-article:20955688 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20955688 | lifeskim:mentions | umls-concept:C0205147 | lld:lifeskim |
| pubmed-article:20955688 | lifeskim:mentions | umls-concept:C1862941 | lld:lifeskim |
| pubmed-article:20955688 | lifeskim:mentions | umls-concept:C1334289 | lld:lifeskim |
| pubmed-article:20955688 | lifeskim:mentions | umls-concept:C0205122 | lld:lifeskim |
| pubmed-article:20955688 | lifeskim:mentions | umls-concept:C1517378 | lld:lifeskim |
| pubmed-article:20955688 | lifeskim:mentions | umls-concept:C0064030 | lld:lifeskim |
| pubmed-article:20955688 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:20955688 | pubmed:dateCreated | 2010-11-15 | lld:pubmed |
| pubmed-article:20955688 | pubmed:abstractText | Aims: Sporadic amyotrophic lateral sclerosis (SALS) seems to be a multifactorial disease, the pathogenesis of which may involve both genetic and environmental factors. The present study aims at identifying a possible genetic change that confers risk for SALS. Methods: We performed whole-genome screening of a copy-number variation (CNV) using a CNV beadchip, followed by real-time quantitative polymerase chain reaction (qPCR) and region-targeted high-density oligonucleotide tiling microarray. Results: Within the 40-kb region on 10p15.3 subtelomere, which harbours two genes encoding isopentenyl diphosphate isomerase 1 (IDI1) and IDI2, we found a segmental copy-number gain in a large proportion of SALS patients. qPCR analysis demonstrated the copy-number gain in 46 out of 83 SALS patients, as compared with 10 out of 99 controls (p=4.86×10(-11), Odds Ratio 10.8); subsequent tiling microarray validated qPCR results and elucidated the fine structure of segmental gains. Conclusions: A segmental copy-number gain in the IDI1/IDI2 gene region may play a significant role in the pathogenesis of SALS. | lld:pubmed |
| pubmed-article:20955688 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20955688 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20955688 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20955688 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20955688 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20955688 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20955688 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:20955688 | pubmed:issn | 1090-2104 | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:EmiMitsuruM | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:SobueGenG | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:TanakaFumiaki... | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:MatsubaraKeni... | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:KatoTakeoT | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:WadaManabuM | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:ToyoshimaItar... | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:ArawakaShigek... | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:KawanamiToruT | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:TsuburayaKenj... | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:SatoHidenoriH | lld:pubmed |
| pubmed-article:20955688 | pubmed:author | pubmed-author:KatagiriTadas... | lld:pubmed |
| pubmed-article:20955688 | pubmed:copyrightInfo | Copyright © 2010 Elsevier Inc. All rights reserved. | lld:pubmed |
| pubmed-article:20955688 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20955688 | pubmed:day | 12 | lld:pubmed |
| pubmed-article:20955688 | pubmed:volume | 402 | lld:pubmed |
| pubmed-article:20955688 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20955688 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20955688 | pubmed:pagination | 438-42 | lld:pubmed |
| pubmed-article:20955688 | pubmed:meshHeading | pubmed-meshheading:20955688... | lld:pubmed |
| pubmed-article:20955688 | pubmed:meshHeading | pubmed-meshheading:20955688... | lld:pubmed |
| pubmed-article:20955688 | pubmed:meshHeading | pubmed-meshheading:20955688... | lld:pubmed |
| pubmed-article:20955688 | pubmed:meshHeading | pubmed-meshheading:20955688... | lld:pubmed |
| pubmed-article:20955688 | pubmed:meshHeading | pubmed-meshheading:20955688... | lld:pubmed |
| pubmed-article:20955688 | pubmed:meshHeading | pubmed-meshheading:20955688... | lld:pubmed |
| pubmed-article:20955688 | pubmed:meshHeading | pubmed-meshheading:20955688... | lld:pubmed |
| pubmed-article:20955688 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20955688 | pubmed:articleTitle | Segmental copy-number gain within the region of isopentenyl diphosphate isomerase genes in sporadic amyotrophic lateral sclerosis. | lld:pubmed |
| pubmed-article:20955688 | pubmed:affiliation | Department of Neurology, Haematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, Yamagata, Japan. tkato@med.id.yamagata-u.ac.jp | lld:pubmed |
| pubmed-article:20955688 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20955688 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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