<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Cobo-Vuilleumier, Nadia</style></author><author><style face="normal" font="default" size="100%">Lorenzo, Petra I</style></author><author><style face="normal" font="default" size="100%">Rodríguez, Noelia García</style></author><author><style face="normal" font="default" size="100%">Herrera Gómez, Irene de Gracia</style></author><author><style face="normal" font="default" size="100%">Fuente-Martin, Esther</style></author><author><style face="normal" font="default" size="100%">López-Noriega, Livia</style></author><author><style face="normal" font="default" size="100%">Mellado-Gil, José Manuel</style></author><author><style face="normal" font="default" size="100%">Romero-Zerbo, Silvana-Yanina</style></author><author><style face="normal" font="default" size="100%">Baquié, Mathurin</style></author><author><style face="normal" font="default" size="100%">Lachaud, Christian Claude</style></author><author><style face="normal" font="default" size="100%">Stifter, Katja</style></author><author><style face="normal" font="default" size="100%">Perdomo, German</style></author><author><style face="normal" font="default" size="100%">Bugliani, Marco</style></author><author><style face="normal" font="default" size="100%">De Tata, Vincenzo</style></author><author><style face="normal" font="default" size="100%">Bosco, Domenico</style></author><author><style face="normal" font="default" size="100%">Parnaud, Geraldine</style></author><author><style face="normal" font="default" size="100%">Pozo, David</style></author><author><style face="normal" font="default" size="100%">Hmadcha, Abdelkrim</style></author><author><style face="normal" font="default" size="100%">Florido, Javier P</style></author><author><style face="normal" font="default" size="100%">Toscano, Miguel G</style></author><author><style face="normal" font="default" size="100%">de Haan, Peter</style></author><author><style face="normal" font="default" size="100%">Schoonjans, Kristina</style></author><author><style face="normal" font="default" size="100%">Sánchez Palazón, Luis</style></author><author><style face="normal" font="default" size="100%">Marchetti, Piero</style></author><author><style face="normal" font="default" size="100%">Schirmbeck, Reinhold</style></author><author><style face="normal" font="default" size="100%">Martín-Montalvo, Alejandro</style></author><author><style face="normal" font="default" size="100%">Meda, Paolo</style></author><author><style face="normal" font="default" size="100%">Soria, Bernat</style></author><author><style face="normal" font="default" size="100%">Bermúdez-Silva, Francisco-Javier</style></author><author><style face="normal" font="default" size="100%">St-Onge, Luc</style></author><author><style face="normal" font="default" size="100%">Gauthier, Benoit R</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">LRH-1 agonism favours an immune-islet dialogue which protects against diabetes mellitus.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Commun</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat Commun</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Apoptosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Communication</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Survival</style></keyword><keyword><style  face="normal" font="default" size="100%">Diabetes Mellitus, Experimental</style></keyword><keyword><style  face="normal" font="default" size="100%">Diabetes Mellitus, Type 2</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Hypoglycemic Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunity, Innate</style></keyword><keyword><style  face="normal" font="default" size="100%">insulin</style></keyword><keyword><style  face="normal" font="default" size="100%">Insulin-Secreting Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Islets of Langerhans</style></keyword><keyword><style  face="normal" font="default" size="100%">Islets of Langerhans Transplantation</style></keyword><keyword><style  face="normal" font="default" size="100%">Macrophages</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice, Inbred C57BL</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenalenes</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, Cytoplasmic and Nuclear</style></keyword><keyword><style  face="normal" font="default" size="100%">Streptozocin</style></keyword><keyword><style  face="normal" font="default" size="100%">T-Lymphocytes, Regulatory</style></keyword><keyword><style  face="normal" font="default" size="100%">Transplantation, Heterologous</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 Apr 16</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">9</style></volume><pages><style face="normal" font="default" size="100%">1488</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Type 1 diabetes mellitus (T1DM) is due to the selective destruction of islet beta cells by immune cells. Current therapies focused on repressing the immune attack or stimulating beta cell regeneration still have limited clinical efficacy. Therefore, it is timely to identify innovative targets to dampen the immune process, while promoting beta cell survival and function. Liver receptor homologue-1 (LRH-1) is a nuclear receptor that represses inflammation in digestive organs, and protects pancreatic islets against apoptosis. Here, we show that BL001, a small LRH-1 agonist, impedes hyperglycemia progression and the immune-dependent inflammation of pancreas in murine models of T1DM, and beta cell apoptosis in islets of type 2 diabetic patients, while increasing beta cell mass and insulin secretion. Thus, we suggest that LRH-1 agonism favors a dialogue between immune and islet cells, which could be druggable to protect against diabetes mellitus.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/29662071?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Joaquín Dopazo</style></author><author><style face="normal" font="default" size="100%">Amadoz, Alicia</style></author><author><style face="normal" font="default" size="100%">Bleda, Marta</style></author><author><style face="normal" font="default" size="100%">García-Alonso, Luz</style></author><author><style face="normal" font="default" size="100%">Alemán, Alejandro</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">Rodriguez, Juan A</style></author><author><style face="normal" font="default" size="100%">Daub, Josephine T</style></author><author><style face="normal" font="default" size="100%">Muntané, Gerard</style></author><author><style face="normal" font="default" size="100%">Antonio Rueda</style></author><author><style face="normal" font="default" size="100%">Vela-Boza, Alicia</style></author><author><style face="normal" font="default" size="100%">López-Domingo, Francisco J</style></author><author><style face="normal" font="default" size="100%">Florido, Javier P</style></author><author><style face="normal" font="default" size="100%">Arce, Pablo</style></author><author><style face="normal" font="default" size="100%">Ruiz-Ferrer, Macarena</style></author><author><style face="normal" font="default" size="100%">Méndez-Vidal, Cristina</style></author><author><style face="normal" font="default" size="100%">Arnold, Todd E</style></author><author><style face="normal" font="default" size="100%">Spleiss, Olivia</style></author><author><style face="normal" font="default" size="100%">Alvarez-Tejado, Miguel</style></author><author><style face="normal" font="default" size="100%">Navarro, Arcadi</style></author><author><style face="normal" font="default" size="100%">Bhattacharya, Shomi S</style></author><author><style face="normal" font="default" size="100%">Borrego, Salud</style></author><author><style face="normal" font="default" size="100%">Santoyo-López, Javier</style></author><author><style face="normal" font="default" size="100%">Antiňolo, Guillermo</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">267 Spanish exomes reveal population-specific differences in disease-related genetic variation.</style></title><secondary-title><style face="normal" font="default" size="100%">Molecular biology and evolution</style></secondary-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">disease</style></keyword><keyword><style  face="normal" font="default" size="100%">NGS</style></keyword><keyword><style  face="normal" font="default" size="100%">polymorphisms</style></keyword><keyword><style  face="normal" font="default" size="100%">Population genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">prioritization</style></keyword><keyword><style  face="normal" font="default" size="100%">SNP</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2016</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2016 Jan 13</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">https://mbe.oxfordjournals.org/content/early/2016/02/17/molbev.msw005.full</style></url></web-urls></urls><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalogue of local variability motivated the whole exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population. Like in other studies, a considerable number of rare variants were found (almost one third of the described variants). There were also relevant differences in allelic frequencies in polymorphic variants, including about 10,000 polymorphisms private to the Spanish population. The allelic frequencies of variants conferring susceptibility to complex diseases (including cancer, schizophrenia, Alzheimer disease, type 2 diabetes and other pathologies) were overall similar to those of other populations. However, the trend is the opposite for variants linked to Mendelian and rare diseases (including several retinal degenerative dystrophies and cardiomyopathies) that show marked frequency differences between populations. Interestingly, a correspondence between differences in allelic frequencies and disease prevalence was found, highlighting the relevance of frequency differences in disease risk. These differences are also observed in variants that disrupt known drug binding sites, suggesting an important role for local variability in population-specific drug resistances or adverse effects. We have made the Spanish population variant server web page that contains population frequency information for the complete list of 170,888 variant positions we found publicly available (http://spv.babelomics.org/), We show that it if fundamental to determine population-specific variant frequencies in order to distinguish real disease associations from population-specific polymorphisms.</style></abstract></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">López-Domingo, Francisco J</style></author><author><style face="normal" font="default" size="100%">Florido, Javier P</style></author><author><style face="normal" font="default" size="100%">Rueda, Antonio</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Santoyo-López, Javier</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.</style></title><secondary-title><style face="normal" font="default" size="100%">Bioinformatics</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Bioinformatics</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">High-Throughput Nucleotide Sequencing</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Software</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 Jun 15</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">30</style></volume><pages><style face="normal" font="default" size="100%">1767-8</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;MOTIVATION: &lt;/b&gt;Targeted enrichment sequencing by next-generation sequencing is a common approach to interrogate specific loci or the whole exome in the human genome. The efficiency and the lack of bias in the enrichment process need to be assessed as a quality control step before performing downstream analysis of the sequence data. Tools that can report on the sensitivity, specificity, uniformity and other enrichment-specific features are needed.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We have implemented the next-generation sequencing data Capture Assessment Tool (ngsCAT), a tool that takes the information of the mapped reads and the coordinates of the targeted regions as input files, and generates a report with metrics and figures that allows the evaluation of the efficiency of the enrichment process. The tool can also take as input the information of two samples allowing the comparison of two different experiments.&lt;/p&gt;&lt;p&gt;&lt;b&gt;AVAILABILITY AND IMPLEMENTATION: &lt;/b&gt;Documentation and downloads for ngsCAT can be found at http://www.bioinfomgp.org/ngscat.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">12</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/24578402?dopt=Abstract</style></custom1></record></records></xml>