Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 전재범 | - |
dc.date.accessioned | 2018-03-13T07:42:16Z | - |
dc.date.available | 2018-03-13T07:42:16Z | - |
dc.date.issued | 2013-06 | - |
dc.identifier.citation | BMC MEDICAL GENOMICS, MAY 7 2013, 6(2), p.S10 | en_US |
dc.identifier.issn | 1755-8794 | - |
dc.identifier.uri | https://bmcmedgenomics.biomedcentral.com/articles/10.1186/1755-8794-6-S2-S10 | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/46183 | - |
dc.description.abstract | Background: Congenital muscular torticollis (CMT) is characterized by thickening and/or tightness of the unilateral sternocleidomastoid muscle (SCM), ending up with torticollis. Our aim was to identify differentially expressed genes (DEGs) and novel protein interaction network modules of CMT, and to discover the relationship between gene expressions and clinical severity of CMT.Results: Twenty-eight sternocleidomastoid muscles (SCMs) from 23 subjects with CMT and 5 SCMs without CMT were allocated for microarray, MRI, or imunohistochemical studies. We first identified 269 genes as the DEGs in CMT. Gene ontology enrichment analysis revealed that the main function of the DEGs is for extracellular region part during developmental processes. Five CMT-related protein network modules were identified, which showed that the important pathway is fibrosis related with collagen and elastin fibrillogenesis with an evidence of DNA repair mechanism. Interestingly, the expression levels of the 8 DEGs called CMT signature genes whose mRNA expression was double-confirmed by quantitative real time PCR showed good correlation with the severity of CMT which was measured with the pre-operational MRI images (R-2 ranging from 0.82 to 0.21). Moreover, the protein expressions of ELN, ASPN and CHD3 which were identified from the CMT-related protein network modules demonstrated the differential expression between the CMT and normal SCM.Conclusions: We here provided an integrative analysis of CMT from gene expression to clinical significance, which showed good correlation with clinical severity of CMT. Furthermore, the CMT-related protein network modules were identified, which provided more in-depth understanding of pathophysiology of CMT. | en_US |
dc.description.sponsorship | This research was supported by the new faculty research fund of Ajou University School of Medicine and Basic Science Research Programs through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2010-0022887 and 20110013472). This research was also supported by the NRF grant funded by the Korea government (MEST) (2012-0000995). The normal SCM muscles for the immunohistochemistry were provided by the Ajou Human Bio-Resource Bank (AHBB), a member of the National Biobank of Korea, which is supported by the Ministry of Health and Welfare. All samples derived from the National Biobank of Korea were obtained with informed consent under institutional review board-approved protocols. | en_US |
dc.language.iso | en | en_US |
dc.publisher | BIOMED CENTRAL LTD, 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND | en_US |
dc.subject | PROTEIN-PROTEIN INTERACTIONS | en_US |
dc.subject | INTERACTION NETWORKS | en_US |
dc.subject | INFANTS | en_US |
dc.subject | MATRIX | en_US |
dc.title | Integrative analysis of congenital muscular torticollis: from gene expression to clinical significance | en_US |
dc.type | Article | en_US |
dc.relation.no | Suppl 2 | - |
dc.relation.volume | 6 | - |
dc.identifier.doi | 10.1186/1755-8794-6-S2-S10 | - |
dc.relation.page | 1-13 | - |
dc.relation.journal | BMC MEDICAL GENOMICS | - |
dc.contributor.googleauthor | Yim, Shin-Young | - |
dc.contributor.googleauthor | Yoon, Dukyong | - |
dc.contributor.googleauthor | Park, Rae Woong | - |
dc.contributor.googleauthor | Lee, KiYoung | - |
dc.contributor.googleauthor | Park, Myong Chul | - |
dc.contributor.googleauthor | Lee, Il Jae | - |
dc.contributor.googleauthor | Kim, Jang-Hee | - |
dc.contributor.googleauthor | Lee, Myung Ae | - |
dc.contributor.googleauthor | Kwack, Kyu-Sung | - |
dc.contributor.googleauthor | Jun, Jae-Bum | - |
dc.relation.code | 2013001297 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | junjb | - |
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