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Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry

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Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry

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dc.contributor.author Ateca Cabarga, Juan Carlos es_ES
dc.contributor.author Cosa, Alejandro es_ES
dc.contributor.author Pallares, Vicente es_ES
dc.contributor.author Lopez-Atalaya, Jose P. es_ES
dc.contributor.author Barco, Angel es_ES
dc.contributor.author Canals, Santiago es_ES
dc.contributor.author Moratal Pérez, David es_ES
dc.date.accessioned 2016-05-25T10:30:52Z
dc.date.available 2016-05-25T10:30:52Z
dc.date.issued 2015-11-06
dc.identifier.issn 2045-2322
dc.identifier.uri http://hdl.handle.net/10251/64693
dc.description.abstract The Rubinstein-Taybi Syndrome (RSTS) is a congenital disease that affects brain development causing severe cognitive deficits. In most cases the disease is associated with dominant mutations in the gene encoding the CREB binding protein (CBP). In this work, we present the first quantitative analysis of brain abnormalities in a mouse model of RSTS using magnetic resonance imaging (MRI) and two novel self-developed automated algorithms for image volumetric analysis. Our results quantitatively confirm key syndromic features observed in RSTS patients, such as reductions in brain size (-16.31%, p < 0.05), white matter volume (-16.00%, p < 0.05), and corpus callosum (-12.40%, p < 0.05). Furthermore, they provide new insight into the developmental origin of the disease. By comparing brain tissues in a region by region basis between cbp(+/-) and cbp(+/+) littermates, we found that cbp haploinsufficiency is specifically associated with significant reductions in prosencephalic tissue, such us in the olfactory bulb and neocortex, whereas regions evolved from the embryonic rhombencephalon were spared. Despite the large volume reductions, the proportion between gray-, white-matter and cerebrospinal fluid were conserved, suggesting a role of CBP in brain size regulation. The commonalities with holoprosencephaly and arhinencephaly conditions suggest the inclusion of RSTS in the family of neuronal migration disorders. es_ES
dc.description.sponsorship We are grateful to Begona Fernandez for her excellent technical assistance. We would like to thank S. Sawiak (Wolfson Imaging Centre, University of Cambridge, Cambridge, United Kingdom) for the mouse brain tissue probability maps and the SPMmouse plug-in, and to N. Kovacevic (Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada) for the atlas of the mouse brain. Supported by grants from the Spanish MINECO to S.C. (BFU 2012-39958) and MINECO and FEDER to D.M. (TEC 2012-33778) and from MINECO (SAF2011-22855) and Generalitat Valenciana (Prometeo/2012/005) to A.B. The Instituto de Neurociencias is "Centre of Excellence Severo Ochoa". en_EN
dc.language Inglés es_ES
dc.publisher Nature Publishing Group es_ES
dc.relation.ispartof Scientific Reports es_ES
dc.rights Reconocimiento - No comercial - Sin obra derivada (by-nc-nd) es_ES
dc.subject RUBINSTEIN-TAYBI-SYNDROME es_ES
dc.subject GENETIC-HETEROGENEITY es_ES
dc.subject MAGNETIC-RESONANCE es_ES
dc.subject MALFORMATION es_ES
dc.subject ASSOCIATION es_ES
dc.subject MUTATIONS es_ES
dc.subject 16P13.3 es_ES
dc.subject MOUSE es_ES
dc.subject EP300 es_ES
dc.subject DIFFERENTIATION es_ES
dc.subject.classification TECNOLOGIA ELECTRONICA es_ES
dc.title Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry es_ES
dc.type Artículo es_ES
dc.identifier.doi 10.1038/srep16256
dc.relation.projectID info:eu-repo/grantAgreement/MINECO//BFU2012-39958/ES/MECANISMOS DE LA MEMORIA: DE LA PLASTICIDAD SINAPTICA A LA DINAMICA DE REDES/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/MICINN//SAF2011-22855/ES/REGULACION EPIGENETICA DE LA RESPUESTA TRANSCRIPCIONAL DEPENDIENTE DE ACTIVIDAD: IMPLICACIONES EN APRENDIZAJE, MEMORIA AND RETRASO MENTAL/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/MINECO//TEC2012-33778/ES/CARACTERIZACION CUANTITATIVA DE LA METASTASIS VERTEBRAL MEDIANTE ANALISIS DE IMAGEN DE TC Y MODELADO POR ELEMENTOS FINITOS PARA LA DETERMINACION DEL RIESGO DE FRACTURA/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/GVA//PROMETEO%2F2012%2F005/ es_ES
dc.rights.accessRights Abierto es_ES
dc.contributor.affiliation Universitat Politècnica de València. Centro de Biomateriales e Ingeniería Tisular - Centre de Biomaterials i Enginyeria Tissular es_ES
dc.contributor.affiliation Universitat Politècnica de València. Departamento de Ingeniería Electrónica - Departament d'Enginyeria Electrònica es_ES
dc.description.bibliographicCitation Ateca Cabarga, JC.; Cosa, A.; Pallares, V.; Lopez-Atalaya, JP.; Barco, A.; Canals, S.; Moratal Pérez, D. (2015). Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry. Scientific Reports. 5. https://doi.org/10.1038/srep16256 es_ES
dc.description.accrualMethod S es_ES
dc.relation.publisherversion http://dx.doi.org/10.1038/srep16256 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.description.volume 5 es_ES
dc.relation.senia 301858 es_ES
dc.identifier.pmid 26543002 en_EN
dc.identifier.pmcid PMC4635362 en_EN
dc.contributor.funder Ministerio de Ciencia e Innovación es_ES
dc.contributor.funder Ministerio de Economía y Competitividad es_ES
dc.contributor.funder Generalitat Valenciana es_ES
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