Search results for "HAp"
showing 10 items of 2767 documents
Expression of the 60 kDa heat shock protein in normal and inflamed liver.
1993
The 60 kDa heat shock proteins (HSP 60) have been well conserved throughout evolution and are highly immunogenic. Cross-reactivity between bacterial and mammalian HSP 60 is considered a likely mechanism in the pathogenesis of autoimmune diseases. T cell and B cell reactivity to HSP 60 is found in patients with rheumatoid or juvenile arthritis, and the expression of HSP 60 in the inflamed joint is found to be increased. In this study the presence of HSP 60 was demonstrated in normal and inflamed lives. HSP 60 was found to be predominantly expressed in hepatocytes and Kupffer cells, and mainly localized in mitochondria. Heat stress in the form of a 1 h incubation at 42 degrees C increased HSP…
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence
2016
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…
Correction: Phylogeny of the Eurasian Wren Nannus troglodytes (Aves: Passeriformes: Troglodytidae) reveals deep and complex diversification patterns …
2020
The Mediterranean Basin represents a Global Biodiversity Hotspot where many organisms show high inter- and intraspecific differentiation. Extant phylogeographic patterns of terrestrial circum-Mediterranean faunas were mainly shaped through Pleistocene range shifts and range fragmentations due to retreat into different glacial refugia. Thus, several extant Mediterranean bird species have diversified by surviving glaciations in different hospitable refugia and subsequently expanded their distribution ranges during the Holocene. Such a scenario was also suggested for the Eurasian Wren (Nannus troglodytes) despite the lack of genetic data for most Mediterranean subspecies. Our phylogenetic mult…
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
2012
Introduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism. Methods: We combined haplotype analysis and differential allelic expression of BRCA2 in breast tissue to identify expression haplotypes and candidate cis-regulatory variants. These candidate variants underwent selection based on in silico predictions for regulatory potential and di…
Population structure and mitochondrial DNA gene flow in Old World populations of Drosophila subobscura
1992
An extensive survey of mitochondrial DNA (mtDNA) restriction polymorphism in 156 isofemale lines from 29 different geographic populations of Drosophila subobscura distributed throughout the Old World was carried out. Ten restriction enzymes were used, five of which revealed restriction site polymorphism. Of the 31 restriction sites detected, 13 were found to be polymorphic. Comparisons with the mtDNA map of Drosophila yakuba indicate that the variable sites are mainly concentrated in protein genes, especially those corresponding to the NADH complex. A total of 13 different haplotypes were observed, two of which (haplotypes I and II) are quite frequent and widely distributed throughout the p…
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy
2006
UNLABELLED Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive muscular hypotonia and cardiomyopathy because of severe Cytochrome c oxidase deficiency. Here we report a novel mutation in the Cytochrome c oxidase assembly gene SCO2 in an infant with fatal infantile cardioencephalomyopathy despite normal initial metabolic screening. CONCLUSION In newborns with unexplained muscular hypotonia and cardiomyopathy genetic testing of mitochondrial respiratory chain disorders might be helpful to establish a final diagnosis and guide treatment decisions.
Testing reflection features in 4U 1705-44 with XMM-Newton, BeppoSAX, and RXTE in the hard and soft states
2012
We use data of the bright atoll source 4U 1705-44 taken with XMM-Newton, BeppoSAX and RXTE both in the hard and in the soft state to perform a self-consistent study of the reflection component in this source. Although the data from these X-ray observatories are not simultaneous, the spectral decomposition is shown to be consistent among the different observations, when the source flux is similar. We therefore select observations performed at similar flux levels in the hard and soft state in order to study the spectral shape in these two states in a broad band (0.1-200 keV) energy range, with good energy resolution, and using self-consistent reflection models. These reflection models provide…
Testing Rate Dependent corrections on timing mode EPIC-pn spectra of the accreting Neutron Star GX 13+1
2014
When the EPIC-pn instrument on board XMM-Newton is operated in Timing mode, high count rates (>100 cts/s) of bright sources may affect the calibration of the energy scale, resulting in a modification of the real spectral shape. The corrections related to this effect are then strongly important in the study of the spectral properties. Tests of these calibrations are more suitable in sources which spectra are characterised by a large number of discrete features. Therefore, in this work, we carried out a spectral analysis of the accreting Neutron Star GX 13+1, which is a dipping source with several narrow absorption lines and a broad emission line in its spectrum. We tested two different co…
Einstein, Planck and Vera Rubin: Relevant Encounters Between the Cosmological and the Quantum Worlds
2021
In Cosmology and in Fundamental Physics there is a crucial question like: where the elusive substance that we call Dark Matter is hidden in the Universe and what is it made of? that, even after 40 years from the Vera Rubin seminal discovery [1] does not have a proper answer. Actually, the more we have investigated, the more this issue has become strongly entangled with aspects that go beyond the established Quantum Physics, the Standard Model of Elementary particles and the General Relativity and related to processes like the Inflation, the accelerated expansion of the Universe and High Energy Phenomena around compact objects. Even Quantum Gravity and very exotic Dark Matter particle candid…
Search for CP violation in single top quark events with the ATLAS detector at LHC
2014
258 páginas. Tesis Doctoral del Departamento de Física Atómica, Molecular y Nuclear de la Universidad de Valencia y del Instituto de Física Corpuscular (IFIC).