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http://hdl.handle.net/2445/157659
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DC Field | Value | Language |
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dc.contributor.author | Krzyzewska, I. M. | - |
dc.contributor.author | Maas, S. M. | - |
dc.contributor.author | Henneman, P. | - |
dc.contributor.author | Lip, K. V. D. | - |
dc.contributor.author | Venema, A. | - |
dc.contributor.author | Baranano, K. | - |
dc.contributor.author | Chassevent, A. | - |
dc.contributor.author | Aref-Eshghi, E. | - |
dc.contributor.author | Essen, A. J. van | - |
dc.contributor.author | Fukuda, T. | - |
dc.contributor.author | Ikeda, H. | - |
dc.contributor.author | Jacquemont, M. | - |
dc.contributor.author | Kim, H. G. | - |
dc.contributor.author | Labalme, A. | - |
dc.contributor.author | Lewis, S. M. | - |
dc.contributor.author | Lesca, Gaetan | - |
dc.contributor.author | Madrigal Bajo, Irene | - |
dc.contributor.author | Mahida, S. | - |
dc.contributor.author | Matsumoto, N. | - |
dc.contributor.author | Rabionet Janssen, Raquel | - |
dc.contributor.author | Rajcan-Separovic, E. | - |
dc.contributor.author | Qiao, Y. | - |
dc.contributor.author | Sadikovic, B. | - |
dc.contributor.author | Saitsu, H. | - |
dc.contributor.author | Sweetser, D. A. | - |
dc.contributor.author | Alders, M. | - |
dc.contributor.author | Mannens, M. M. A. M. | - |
dc.date.accessioned | 2020-04-27T09:59:47Z | - |
dc.date.available | 2020-04-27T09:59:47Z | - |
dc.date.issued | 2019-11-04 | - |
dc.identifier.issn | 1868-7075 | - |
dc.identifier.uri | http://hdl.handle.net/2445/157659 | - |
dc.description.abstract | SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in the SETD1B gene which may be used as an epigenetic marker supporting the diagnosis of syndromic SETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identified SETD1B VUS (variant of uncertain significance) in two patients. | - |
dc.format.extent | 15 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | BioMed Central | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1186/s13148-019-0749-3 | - |
dc.relation.ispartof | Clinical Epigenetics, 2019, vol. 11, p. 156 | - |
dc.relation.uri | https://doi.org/10.1186/s13148-019-0749-3 | - |
dc.rights | cc-by (c) Krzyzewska, I.M. et al., 2019 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | - |
dc.subject.classification | Expressió gènica | - |
dc.subject.classification | Malalties | - |
dc.subject.other | Gene expression | - |
dc.subject.other | Diseases | - |
dc.title | A genome-wide DNA methylation signature for SETD1B-related syndrome | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 695988 | - |
dc.date.updated | 2020-04-27T09:59:47Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/223143/EU//TECHGENE | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 31685013 | - |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) Publicacions de projectes de recerca finançats per la UE Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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File | Description | Size | Format | |
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695988.pdf | 1.98 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License