Search results for "REF"
showing 10 items of 8690 documents
Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.
2016
The growing catalogue of structural variants in humans often overlooks inversions as one of the most difficult types of variation to study, even though they affect phenotypic traits in diverse organisms. Here, we have analysed in detail 90 inversions predicted from the comparison of two independently assembled human genomes: the reference genome (NCBI36/HG18) and HuRef. Surprisingly, we found that two thirds of these predictions (62) represent errors either in assembly comparison or in one of the assemblies, including 27 misassembled regions in HG18. Next, we validated 22 of the remaining 28 potential polymorphic inversions using different PCR techniques and characterized their breakpoints …
Next-generation sequencing in clinical practice: from the patients' preferences to the informed consent process
2016
International audience
Proteomics Standards Initiative: Fifteen Years of Progress and Future Work.
2017
Abstract: The Proteomics Standards Initiative (PSI) of the Human Proteome Organization (HUPO) has now been developing and promoting open community standards and software tools in the field of proteomics for 15 years. Under the guidance of the chair, co-chairs, and other leadership positions, the PSI working groups are tasked with the development and maintenance of community standards via special workshops and ongoing work. Among the existing, ratified standards, the PSI working groups continue to update PSI-MI XML, MITAB, mzML, mzIdentML, mzQuantML, mzTab, and the MIAPE (Minimum Information About a Proteomics Experiment) guidelines with the advance of new technologies and techniques. Furthe…
Alterations of perineuronal nets in the dorsolateral prefrontal cortex of neuropsychiatric patients
2019
Abstract Background Alterations in the structure and physiology of interneurons in the prefrontal cortex (PFC) are important factors in the etiopathology of different psychiatric disorders. Among the interneuronal subpopulations, parvalbumin (PV) expressing cells appear to be specially affected. Interestingly, during development and adulthood the connectivity of these interneurons is regulated by the presence of perineuronal nets (PNNs), specialized regions of the extracellular matrix, which are frequently surrounding PV expressing neurons. Previous reports have found anomalies in the density of PNNs in the PFC of schizophrenic patients. However, although some studies have described alterat…
Modelos animales de adicción a las drogas
2017
El desarrollo de modelos animales de refuerzo y adicción a las drogas es imprescindible para el avance en el conocimiento de las bases biológicas de este trastorno y la identificación de nuevas dianas terapéuticas. En función del componente del refuerzo que deseemos estudiar podemos servirnos de un tipo de modelos animales u otros. Podemos utilizar modelos de refuerzo basados en el efecto hedónico primario que produce el consumo de la sustancia adictiva, como los modelos de autoadministración (AA) y autoestimulación eléctrica intracraneal (AEIC), o modelos basados en el componente relacionado con el aprendizaje asociativo y la capacidad cognitiva de realizar predicciones sobre la obtención …
CHANGING THE NATIONAL HEIGHT SYSTEM AND GEOID MODEL IN LATVIA
2016
According to the decision of IAG Reference Frame Sub-commission for Europe (EUREF) the EVRF2007 solution as the vertical reference has to be deployed in EU countries.The new height system LAS-2000,5 had been enacted as the European Vertical Reference System‘s EVRF2007 realization in Latvia and the new geoid model LV‘14 had been introduced by Latvian authority Latvian Geospatial Information Agency. However, the appreciation of the quality of quasi-geoid model LV‘14 is rather contradictious among the users in Latvia. The independent estimate and comparison of the two Latvian geoid models developed till now has been performed by the Institute of Geodesy and Geoinformatics. Previous geoid model…
Development of an RNA-based kit for easy generation of TCR-engineered lymphocytes to control T-cell assay performance.
2018
Cell-based assays to monitor antigen-specific T-cell responses are characterized by their high complexity and should be conducted under controlled conditions to lower multiple possible sources of assay variation. However, the lack of standard reagents makes it difficult to directly compare results generated in one lab over time and across institutions. Therefore TCR-engineered reference samples (TERS) that contain a defined number of antigen-specific T cells and continuously deliver stable results are urgently needed. We successfully established a simple and robust TERS technology that constitutes a useful tool to overcome this issue for commonly used T-cell immuno-assays. To enable users t…
Active behaviour during early development shapes glucocorticoid reactivity.
2019
AbstractGlucocorticoids are the final effectors of the stress axis, with numerous targets in the central nervous system and the periphery. They are essential for adaptation, yet currently it is unclear how early life events program the glucocorticoid response to stress. Here we provide evidence that involuntary swimming at early developmental stages can reconfigure the cortisol response to homotypic and heterotypic stress in larval zebrafish (Danio rerio), also reducing startle reactivity and increasing spontaneous activity as well as energy efficiency during active behaviour. Collectively, these data identify a role of the genetically malleable zebrafish for linking early life stress with …
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error
2016
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…
Down-Regulation of CD62L Shedding in T Cells by CD39+ Regulatory T Cells Leads to Defective Sensitization in Contact Hypersensitivity Reactions
2016
Injection of regulatory T cells (Tregs) followed by sensitization with 2,4,6-trinitrochlorobenzene induced a transient increase in size and cellularity of skin-draining lymph nodes (LNs) in mice. This led us to hypothesize that Tregs may affect the trafficking of T cells from and to peripheral LNs. Two to three hours after sensitization, we found fewer CD8+ T cells expressing CD62L in LNs compared with untreated controls. Injection of wild-type Tregs prevented this down-regulation of CD62L. In contrast, Tregs devoid of the adenosine triphosphate (ATP)-degrading ecto-enzyme CD39 were unable to do so. As for the mechanism of CD62L regulation, we found that ATP, which is released in skin upon …