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http://hdl.handle.net/10261/124253
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dc.contributor.author | López-Espíndola, Daniela | - |
dc.contributor.author | Grijota Martínez, María del Carmen | - |
dc.contributor.author | Refetoff, Samuel | - |
dc.contributor.author | Bernal, Juan | - |
dc.contributor.author | Guadaño-Ferraz, Ana | - |
dc.date.accessioned | 2015-11-02T10:14:55Z | - |
dc.date.available | 2015-11-02T10:14:55Z | - |
dc.date.issued | 2014 | - |
dc.identifier | issn: 0021-972X | - |
dc.identifier | e-issn: 1945-7197 | - |
dc.identifier.citation | Journal of Clinical Endocrinology and Metabolism 99(12): E2799-E2804 (2014) | - |
dc.identifier.uri | http://hdl.handle.net/10261/124253 | - |
dc.description | et al. | - |
dc.description.abstract | [Context]: Mutations in the MCT8 (SLC16A2) gene, encoding a specific thyroid hormone transporter, cause an X-linked disease with profound psychomotor retardation, neurological impairment, and abnormal serumt hyroid hormone levels. The nature of the central nervous system damage is unknown. | - |
dc.description.abstract | [Objective]: The objective of the study was to define the neuropathology of the syndrome by analyzing brain tissue sections from MCT8-deficient subjects. | - |
dc.description.abstract | [Design]: We analyzed brain sections from a 30th gestational week male fetus and an 11-year-old boy and as controls, brain tissue from a 30th and 28th gestational week male and female fetuses, respectively, and a 10-year-old girl and a 12-year-old boy. | - |
dc.description.abstract | [Methods]: Staining with hematoxylin-eosin and immunostaining for myelin basic protein, 70-kDa neurofilament, parvalbumin, calbindin-D28k, and synaptophysin were performed. Thyroid hormone determinations and quantitative PCR for deiodinases were also performed. | - |
dc.description.abstract | [Results]: The MCT8-deficient fetus showed a delay in cortical and cerebellar development and myelination, loss of parvalbumin expression, abnormal calbindin-D28k content, impaired axonal maturation, and diminished biochemical differentiation of Purkinje cells. The 11-year-old boy showed altered cerebellar structure, deficient myelination, deficient synaptophysin and parvalbumin expression, and abnormal calbindin-D28k expression. The MCT8-deficient fetal cerebral cortex showed50%reduction of thyroid hormones and increased type 2 deiodinase and decreased type 3 deiodinase mRNAs. | - |
dc.description.abstract | [Conclusions]: The following conclusions were reached: 1) brain damage in MCT8 deficiency is diffuse, without evidence of focal lesions,andpresent from fetal stages despite apparent normality at birth; 2) deficient hypomyelination persists up to 11 years of age; and 3) the findings are compatible with the deficient action of thyroid hormones in the developing brain caused by impaired transport to the target neural cells. | - |
dc.description.sponsorship | This study was supported by Grant SAF2011-25608 from the Plan Nacional de IDi and the Center for Research on Rare Diseases (Centro de Investigación Biomédica en Red Enfermedades Raras), Instituto de Salud Carlos III, Madrid, Spain; Grant DK15070 from the National Institutes of Health, Bethesda, Maryland; and a grant from the Sherman Family. D.L.-E. is recipient of a fellowship from the “Fellowship Training Program for Advanced Human Capital, Becas Chile” from the National Commission for Scientific and Technological Research, Gobierno de Chile. | - |
dc.publisher | Endocrine Society | - |
dc.rights | closedAccess | - |
dc.title | Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination | - |
dc.type | artículo | - |
dc.identifier.doi | 10.1210/jc.2014-2162 | - |
dc.date.updated | 2015-11-02T10:14:56Z | - |
dc.description.version | Peer Reviewed | - |
dc.language.rfc3066 | eng | - |
dc.contributor.funder | Comisión Nacional de Investigación Científica y Tecnológica (Chile) | - |
dc.contributor.funder | National Institutes of Health (US) | - |
dc.contributor.funder | Instituto de Salud Carlos III | - |
dc.contributor.funder | Centro de Investigación Biomédica en Red Enfermedades Raras (España) | - |
dc.contributor.funder | Gobierno de Chile | - |
dc.relation.csic | Sí | - |
dc.identifier.funder | http://dx.doi.org/10.13039/501100002848 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/100000002 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100004587 | es_ES |
dc.identifier.pmid | 25222753 | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.openairetype | artículo | - |
item.cerifentitytype | Publications | - |
item.fulltext | No Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | none | - |
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