64 resultados para García, Josefa María , O.F.M.Cap.-Biografies
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211 p.
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Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the pathogenic mechanisms underlying this disorder. For that purpose, two AO definitions were used: the earliest age with unequivocal signs of HD (earliest AO or eAO), and the first motor symptoms age (motor AO or mAO). Multiple linear regression analyses were performed between genetic variation within 20 candidate genes and eAO or mAO, using DNA and clinical information of 253 HD patients from REGISTRY project. Gene expression analyses were carried out by RT-qPCR with an independent sample of 35 HD patients from Basque Country Hospitals. We found suggestive association signals between HD eAO and/or mAO and genetic variation within the E2F2, ATF7IP, GRIN2A, GRIN2B, LINC01559, HIP1 and GRIK2 genes. Among them, the most significant was the association between eAO and rs2742976, mapping to the promoter region of E2F2 transcription factor. Furthermore, rs2742976 T allele patient carriers exhibited significantly lower lymphocyte E2F2 gene expression, suggesting a possible implication of E2F2-dependent transcriptional activity in HD pathogenesis. Thus, E2F2 emerges as a new potential HD AO modifier factor.
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3rd International Conference on Mathematical Modeling in Physical Sciences (IC-MSQUARE 2014)
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In this work we perform for the first time a palaeoenvironmental and biostratigraphic analysis of the lower Miocene alluvial deposits of the Cenicero section (NW sector of the Ebro Basin; N Iberian Peninsula), based on the ostracod and micromammal assemblages. One of the main characteristics of this section is the unusual abundance on non-reworked ostracods present in the studied samples compared to other European sequences of similar age and sedimentary environment. This fact has allowed us to develop precise palaeoenvironmental reconstructions. The variations of the identified ostracod assemblages, defined by species such as Cyclocypris laevis, Ilyocypris bradyi, Ilyocypris gibba, Limnocythere sp. or Pseudocandona parallela, record the development of small, ephemeral and shallow ponds in a distal alluvial and/or floodplain environment. Towards the upper part of the section the ponds appear to be less ephemeral, being the aquatic systems more stable for ostracods development. Variations in the water temperature and salinity have been observed along the section, which are related to changes in the local pluviometric regime. On the other hand, the presence of micromammals in one of the studied samples has allowed the precise dating of this section. Thus, the presence of Armantomys daamsi dates the Cenicero section as Agenian (lower Miocene), local zone Y2 (MN2).