<?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%">Ostaszewski, Marek</style></author><author><style face="normal" font="default" size="100%">Niarakis, Anna</style></author><author><style face="normal" font="default" size="100%">Mazein, Alexander</style></author><author><style face="normal" font="default" size="100%">Kuperstein, Inna</style></author><author><style face="normal" font="default" size="100%">Phair, Robert</style></author><author><style face="normal" font="default" size="100%">Orta-Resendiz, Aurelio</style></author><author><style face="normal" font="default" size="100%">Singh, Vidisha</style></author><author><style face="normal" font="default" size="100%">Aghamiri, Sara Sadat</style></author><author><style face="normal" font="default" size="100%">Acencio, Marcio Luis</style></author><author><style face="normal" font="default" size="100%">Glaab, Enrico</style></author><author><style face="normal" font="default" size="100%">Ruepp, Andreas</style></author><author><style face="normal" font="default" size="100%">Fobo, Gisela</style></author><author><style face="normal" font="default" size="100%">Montrone, Corinna</style></author><author><style face="normal" font="default" size="100%">Brauner, Barbara</style></author><author><style face="normal" font="default" size="100%">Frishman, Goar</style></author><author><style face="normal" font="default" size="100%">Monraz Gómez, Luis Cristóbal</style></author><author><style face="normal" font="default" size="100%">Somers, Julia</style></author><author><style face="normal" font="default" size="100%">Hoch, Matti</style></author><author><style face="normal" font="default" size="100%">Kumar Gupta, Shailendra</style></author><author><style face="normal" font="default" size="100%">Scheel, Julia</style></author><author><style face="normal" font="default" size="100%">Borlinghaus, Hanna</style></author><author><style face="normal" font="default" size="100%">Czauderna, Tobias</style></author><author><style face="normal" font="default" size="100%">Schreiber, Falk</style></author><author><style face="normal" font="default" size="100%">Montagud, Arnau</style></author><author><style face="normal" font="default" size="100%">Ponce de Leon, Miguel</style></author><author><style face="normal" font="default" size="100%">Funahashi, Akira</style></author><author><style face="normal" font="default" size="100%">Hiki, Yusuke</style></author><author><style face="normal" font="default" size="100%">Hiroi, Noriko</style></author><author><style face="normal" font="default" size="100%">Yamada, Takahiro G</style></author><author><style face="normal" font="default" size="100%">Dräger, Andreas</style></author><author><style face="normal" font="default" size="100%">Renz, Alina</style></author><author><style face="normal" font="default" size="100%">Naveez, Muhammad</style></author><author><style face="normal" font="default" size="100%">Bocskei, Zsolt</style></author><author><style face="normal" font="default" size="100%">Messina, Francesco</style></author><author><style face="normal" font="default" size="100%">Börnigen, Daniela</style></author><author><style face="normal" font="default" size="100%">Fergusson, Liam</style></author><author><style face="normal" font="default" size="100%">Conti, Marta</style></author><author><style face="normal" font="default" size="100%">Rameil, Marius</style></author><author><style face="normal" font="default" size="100%">Nakonecnij, Vanessa</style></author><author><style face="normal" font="default" size="100%">Vanhoefer, Jakob</style></author><author><style face="normal" font="default" size="100%">Schmiester, Leonard</style></author><author><style face="normal" font="default" size="100%">Wang, Muying</style></author><author><style face="normal" font="default" size="100%">Ackerman, Emily E</style></author><author><style face="normal" font="default" size="100%">Shoemaker, Jason E</style></author><author><style face="normal" font="default" size="100%">Zucker, Jeremy</style></author><author><style face="normal" font="default" size="100%">Oxford, Kristie</style></author><author><style face="normal" font="default" size="100%">Teuton, Jeremy</style></author><author><style face="normal" font="default" size="100%">Kocakaya, Ebru</style></author><author><style face="normal" font="default" size="100%">Summak, Gökçe Yağmur</style></author><author><style face="normal" font="default" size="100%">Hanspers, Kristina</style></author><author><style face="normal" font="default" size="100%">Kutmon, Martina</style></author><author><style face="normal" font="default" size="100%">Coort, Susan</style></author><author><style face="normal" font="default" size="100%">Eijssen, Lars</style></author><author><style face="normal" font="default" size="100%">Ehrhart, Friederike</style></author><author><style face="normal" font="default" size="100%">Rex, Devasahayam Arokia Balaya</style></author><author><style face="normal" font="default" size="100%">Slenter, Denise</style></author><author><style face="normal" font="default" size="100%">Martens, Marvin</style></author><author><style face="normal" font="default" size="100%">Pham, Nhung</style></author><author><style face="normal" font="default" size="100%">Haw, Robin</style></author><author><style face="normal" font="default" size="100%">Jassal, Bijay</style></author><author><style face="normal" font="default" size="100%">Matthews, Lisa</style></author><author><style face="normal" font="default" size="100%">Orlic-Milacic, Marija</style></author><author><style face="normal" font="default" size="100%">Senff Ribeiro, Andrea</style></author><author><style face="normal" font="default" size="100%">Rothfels, Karen</style></author><author><style face="normal" font="default" size="100%">Shamovsky, Veronica</style></author><author><style face="normal" font="default" size="100%">Stephan, Ralf</style></author><author><style face="normal" font="default" size="100%">Sevilla, Cristoffer</style></author><author><style face="normal" font="default" size="100%">Varusai, Thawfeek</style></author><author><style face="normal" font="default" size="100%">Ravel, Jean-Marie</style></author><author><style face="normal" font="default" size="100%">Fraser, Rupsha</style></author><author><style face="normal" font="default" size="100%">Ortseifen, Vera</style></author><author><style face="normal" font="default" size="100%">Marchesi, Silvia</style></author><author><style face="normal" font="default" size="100%">Gawron, Piotr</style></author><author><style face="normal" font="default" size="100%">Smula, Ewa</style></author><author><style face="normal" font="default" size="100%">Heirendt, Laurent</style></author><author><style face="normal" font="default" size="100%">Satagopam, Venkata</style></author><author><style face="normal" font="default" size="100%">Wu, Guanming</style></author><author><style face="normal" font="default" size="100%">Riutta, Anders</style></author><author><style face="normal" font="default" size="100%">Golebiewski, Martin</style></author><author><style face="normal" font="default" size="100%">Owen, Stuart</style></author><author><style face="normal" font="default" size="100%">Goble, Carole</style></author><author><style face="normal" font="default" size="100%">Hu, Xiaoming</style></author><author><style face="normal" font="default" size="100%">Overall, Rupert W</style></author><author><style face="normal" font="default" size="100%">Maier, Dieter</style></author><author><style face="normal" font="default" size="100%">Bauch, Angela</style></author><author><style face="normal" font="default" size="100%">Gyori, Benjamin M</style></author><author><style face="normal" font="default" size="100%">Bachman, John A</style></author><author><style face="normal" font="default" size="100%">Vega, Carlos</style></author><author><style face="normal" font="default" size="100%">Grouès, Valentin</style></author><author><style face="normal" font="default" size="100%">Vazquez, Miguel</style></author><author><style face="normal" font="default" size="100%">Porras, Pablo</style></author><author><style face="normal" font="default" size="100%">Licata, Luana</style></author><author><style face="normal" font="default" size="100%">Iannuccelli, Marta</style></author><author><style face="normal" font="default" size="100%">Sacco, Francesca</style></author><author><style face="normal" font="default" size="100%">Nesterova, Anastasia</style></author><author><style face="normal" font="default" size="100%">Yuryev, Anton</style></author><author><style face="normal" font="default" size="100%">de Waard, Anita</style></author><author><style face="normal" font="default" size="100%">Turei, Denes</style></author><author><style face="normal" font="default" size="100%">Luna, Augustin</style></author><author><style face="normal" font="default" size="100%">Babur, Ozgun</style></author><author><style face="normal" font="default" size="100%">Soliman, Sylvain</style></author><author><style face="normal" font="default" size="100%">Valdeolivas, Alberto</style></author><author><style face="normal" font="default" size="100%">Esteban-Medina, Marina</style></author><author><style face="normal" font="default" size="100%">Peña-Chilet, Maria</style></author><author><style face="normal" font="default" size="100%">Rian, Kinza</style></author><author><style face="normal" font="default" size="100%">Helikar, Tomáš</style></author><author><style face="normal" font="default" size="100%">Puniya, Bhanwar Lal</style></author><author><style face="normal" font="default" size="100%">Modos, Dezso</style></author><author><style face="normal" font="default" size="100%">Treveil, Agatha</style></author><author><style face="normal" font="default" size="100%">Olbei, Marton</style></author><author><style face="normal" font="default" size="100%">De Meulder, Bertrand</style></author><author><style face="normal" font="default" size="100%">Ballereau, Stephane</style></author><author><style face="normal" font="default" size="100%">Dugourd, Aurélien</style></author><author><style face="normal" font="default" size="100%">Naldi, Aurélien</style></author><author><style face="normal" font="default" size="100%">Noël, Vincent</style></author><author><style face="normal" font="default" size="100%">Calzone, Laurence</style></author><author><style face="normal" font="default" size="100%">Sander, Chris</style></author><author><style face="normal" font="default" size="100%">Demir, Emek</style></author><author><style face="normal" font="default" size="100%">Korcsmaros, Tamas</style></author><author><style face="normal" font="default" size="100%">Freeman, Tom C</style></author><author><style face="normal" font="default" size="100%">Augé, Franck</style></author><author><style face="normal" font="default" size="100%">Beckmann, Jacques S</style></author><author><style face="normal" font="default" size="100%">Hasenauer, Jan</style></author><author><style face="normal" font="default" size="100%">Wolkenhauer, Olaf</style></author><author><style face="normal" font="default" size="100%">Wilighagen, Egon L</style></author><author><style face="normal" font="default" size="100%">Pico, Alexander R</style></author><author><style face="normal" font="default" size="100%">Evelo, Chris T</style></author><author><style face="normal" font="default" size="100%">Gillespie, Marc E</style></author><author><style face="normal" font="default" size="100%">Stein, Lincoln D</style></author><author><style face="normal" font="default" size="100%">Hermjakob, Henning</style></author><author><style face="normal" font="default" size="100%">D'Eustachio, Peter</style></author><author><style face="normal" font="default" size="100%">Saez-Rodriguez, Julio</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Valencia, Alfonso</style></author><author><style face="normal" font="default" size="100%">Kitano, Hiroaki</style></author><author><style face="normal" font="default" size="100%">Barillot, Emmanuel</style></author><author><style face="normal" font="default" size="100%">Auffray, Charles</style></author><author><style face="normal" font="default" size="100%">Balling, Rudi</style></author><author><style face="normal" font="default" size="100%">Schneider, Reinhard</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">COVID-19 Disease Map Community</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.</style></title><secondary-title><style face="normal" font="default" size="100%">Mol Syst Biol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Mol Syst Biol</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Antiviral Agents</style></keyword><keyword><style  face="normal" font="default" size="100%">Computational Biology</style></keyword><keyword><style  face="normal" font="default" size="100%">Computer Graphics</style></keyword><keyword><style  face="normal" font="default" size="100%">COVID-19</style></keyword><keyword><style  face="normal" font="default" size="100%">Cytokines</style></keyword><keyword><style  face="normal" font="default" size="100%">Data Mining</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Factual</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Host Microbial Interactions</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunity, Cellular</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunity, Humoral</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunity, Innate</style></keyword><keyword><style  face="normal" font="default" size="100%">Lymphocytes</style></keyword><keyword><style  face="normal" font="default" size="100%">Metabolic Networks and Pathways</style></keyword><keyword><style  face="normal" font="default" size="100%">Myeloid Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Interaction Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">SARS-CoV-2</style></keyword><keyword><style  face="normal" font="default" size="100%">Signal Transduction</style></keyword><keyword><style  face="normal" font="default" size="100%">Software</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Viral Proteins</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2021</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2021 10</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">17</style></volume><pages><style face="normal" font="default" size="100%">e10387</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;We need to effectively combine the knowledge from surging literature with complex datasets to propose mechanistic models of SARS-CoV-2 infection, improving data interpretation and predicting key targets of intervention. Here, we describe a large-scale community effort to build an open access, interoperable and computable repository of COVID-19 molecular mechanisms. The COVID-19 Disease Map (C19DMap) is a graphical, interactive representation of disease-relevant molecular mechanisms linking many knowledge sources. Notably, it is a computational resource for graph-based analyses and disease modelling. To this end, we established a framework of tools, platforms and guidelines necessary for a multifaceted community of biocurators, domain experts, bioinformaticians and computational biologists. The diagrams of the C19DMap, curated from the literature, are integrated with relevant interaction and text mining databases. We demonstrate the application of network analysis and modelling approaches by concrete examples to highlight new testable hypotheses. This framework helps to find signatures of SARS-CoV-2 predisposition, treatment response or prioritisation of drug candidates. Such an approach may help deal with new waves of COVID-19 or similar pandemics in the long-term perspective.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">10</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/34664389?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%">Martinez-Delgado, Beatriz</style></author><author><style face="normal" font="default" size="100%">Lopez-Martin, Estrella</style></author><author><style face="normal" font="default" size="100%">Lara-Herguedas, Julián</style></author><author><style face="normal" font="default" size="100%">Monzon, Sara</style></author><author><style face="normal" font="default" size="100%">Cuesta, Isabel</style></author><author><style face="normal" font="default" size="100%">Juliá, Miguel</style></author><author><style face="normal" font="default" size="100%">Aquino, Virginia</style></author><author><style face="normal" font="default" size="100%">Rodriguez-Martin, Carlos</style></author><author><style face="normal" font="default" size="100%">Damian, Alejandra</style></author><author><style face="normal" font="default" size="100%">Gonzalo, Irene</style></author><author><style face="normal" font="default" size="100%">Gomez-Mariano, Gema</style></author><author><style face="normal" font="default" size="100%">Baladron, Beatriz</style></author><author><style face="normal" font="default" size="100%">Cazorla, Rosario</style></author><author><style face="normal" font="default" size="100%">Iglesias, Gema</style></author><author><style face="normal" font="default" size="100%">Roman, Enriqueta</style></author><author><style face="normal" font="default" size="100%">Ros, Purificacion</style></author><author><style face="normal" font="default" size="100%">Tutor, Pablo</style></author><author><style face="normal" font="default" size="100%">Mellor, Susana</style></author><author><style face="normal" font="default" size="100%">Jimenez, Carlos</style></author><author><style face="normal" font="default" size="100%">Cabrejas, Maria Jose</style></author><author><style face="normal" font="default" size="100%">Gonzalez-Vioque, Emiliano</style></author><author><style face="normal" font="default" size="100%">Alonso, Javier</style></author><author><style face="normal" font="default" size="100%">Bermejo-Sánchez, Eva</style></author><author><style face="normal" font="default" size="100%">Posada, Manuel</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Med Genet A</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am J Med Genet A</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Cytoskeletal Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Dwarfism</style></keyword><keyword><style  face="normal" font="default" size="100%">Exons</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Association Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurodevelopmental Disorders</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Isoforms</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Messenger</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Deletion</style></keyword><keyword><style  face="normal" font="default" size="100%">Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Initiation Site</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription, Genetic</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2021</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2021 03</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">185</style></volume><pages><style face="normal" font="default" size="100%">877-883</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and mutations, has been recurrently involved in syndromic forms of developmental delay and intellectual disability, known as AUTS2 syndrome. The AUTS2 gene plays an important role in regulation of neuronal migration, and when altered, associates with a variable phenotype from severely to mildly affected patients. The more severe phenotypes significantly correlate with the presence of defects affecting the C-terminus part of the gene. This article reports a new patient with a syndromic neurodevelopmental disorder, who presents a deletion of 30 nucleotides in the exon 9 of the AUTS2 gene. Importantly, this deletion includes the transcription start site for the AUTS2 short transcript isoform, which has an important role in brain development. Gene expression analysis of AUTS2 full-length and short isoforms revealed that the deletion found in this patient causes a remarkable reduction in the expression level, not only of the short isoform, but also of the full AUTS2 transcripts. This report adds more evidence for the role of mutated AUTS2 short transcripts in the development of a severe phenotype in the AUTS2 syndrome.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue></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%">Moschen, Sebastián</style></author><author><style face="normal" font="default" size="100%">Di Rienzo, Julio A</style></author><author><style face="normal" font="default" size="100%">Higgins, Janet</style></author><author><style face="normal" font="default" size="100%">Tohge, Takayuki</style></author><author><style face="normal" font="default" size="100%">Watanabe, Mutsumi</style></author><author><style face="normal" font="default" size="100%">Gonzalez, Sergio</style></author><author><style face="normal" font="default" size="100%">Rivarola, Máximo</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Hopp, H Esteban</style></author><author><style face="normal" font="default" size="100%">Hoefgen, Rainer</style></author><author><style face="normal" font="default" size="100%">Fernie, Alisdair R</style></author><author><style face="normal" font="default" size="100%">Paniego, Norma</style></author><author><style face="normal" font="default" size="100%">Fernandez, Paula</style></author><author><style face="normal" font="default" size="100%">Heinz, Ruth A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Integration of transcriptomic and metabolic data reveals hub transcription factors involved in drought stress response in sunflower (Helianthus annuus L.).</style></title><secondary-title><style face="normal" font="default" size="100%">Plant Mol Biol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Plant Mol Biol</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Chlorophyll</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation, Plant</style></keyword><keyword><style  face="normal" font="default" size="100%">Helianthus</style></keyword><keyword><style  face="normal" font="default" size="100%">Plant Leaves</style></keyword><keyword><style  face="normal" font="default" size="100%">Plant Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Array Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Plant</style></keyword><keyword><style  face="normal" font="default" size="100%">Stress, Physiological</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Water</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Jul</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">94</style></volume><pages><style face="normal" font="default" size="100%">549-564</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;By integration of transcriptional and metabolic profiles we identified pathways and hubs transcription factors regulated during drought conditions in sunflower, useful for applications in molecular and/or biotechnological breeding. Drought is one of the most important environmental stresses that effects crop productivity in many agricultural regions. Sunflower is tolerant to drought conditions but the mechanisms involved in this tolerance remain unclear at the molecular level. The aim of this study was to characterize and integrate transcriptional and metabolic pathways related to drought stress in sunflower plants, by using a system biology approach. Our results showed a delay in plant senescence with an increase in the expression level of photosynthesis related genes as well as higher levels of sugars, osmoprotectant amino acids and ionic nutrients under drought conditions. In addition, we identified transcription factors that were upregulated during drought conditions and that may act as hubs in the transcriptional network. Many of these transcription factors belong to families implicated in the drought response in model species. The integration of transcriptomic and metabolomic data in this study, together with physiological measurements, has improved our understanding of the biological responses during droughts and contributes to elucidate the molecular mechanisms involved under this environmental condition. These findings will provide useful biotechnological tools to improve stress tolerance while maintaining crop yield under restricted water availability.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4-5</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/28639116?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%">Prieto, Javier</style></author><author><style face="normal" font="default" size="100%">León, Marian</style></author><author><style face="normal" font="default" size="100%">Ponsoda, Xavier</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">Bort, Roque</style></author><author><style face="normal" font="default" size="100%">Serna, Eva</style></author><author><style face="normal" font="default" size="100%">Barneo-Muñoz, Manuela</style></author><author><style face="normal" font="default" size="100%">Palau, Francesc</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">López-García, Carlos</style></author><author><style face="normal" font="default" size="100%">Torres, Josema</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Dysfunctional mitochondrial fission impairs cell reprogramming.</style></title><secondary-title><style face="normal" font="default" size="100%">Cell Cycle</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Cell Cycle</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Cycle Checkpoints</style></keyword><keyword><style  face="normal" font="default" size="100%">Cellular Reprogramming</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Damage</style></keyword><keyword><style  face="normal" font="default" size="100%">G2 Phase</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Knockdown Techniques</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Mitochondrial Dynamics</style></keyword><keyword><style  face="normal" font="default" size="100%">Mitosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Nerve Tissue Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Pluripotent Stem Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</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 Dec</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">15</style></volume><pages><style face="normal" font="default" size="100%">3240-3250</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;We have recently shown that mitochondrial fission is induced early in reprogramming in a Drp1-dependent manner; however, the identity of the factors controlling Drp1 recruitment to mitochondria was unexplored. To investigate this, we used a panel of RNAi targeting factors involved in the regulation of mitochondrial dynamics and we observed that MiD51, Gdap1 and, to a lesser extent, Mff were found to play key roles in this process. Cells derived from Gdap1-null mice were used to further explore the role of this factor in cell reprogramming. Microarray data revealed a prominent down-regulation of cell cycle pathways in Gdap1-null cells early in reprogramming and cell cycle profiling uncovered a G2/M growth arrest in Gdap1-null cells undergoing reprogramming. High-Content analysis showed that this growth arrest was DNA damage-independent. We propose that lack of efficient mitochondrial fission impairs cell reprogramming by interfering with cell cycle progression in a DNA damage-independent manner.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">23</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/27753531?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%">Corton, M</style></author><author><style face="normal" font="default" size="100%">Avila-Fernández, A</style></author><author><style face="normal" font="default" size="100%">Campello, L</style></author><author><style face="normal" font="default" size="100%">Sánchez, M</style></author><author><style face="normal" font="default" size="100%">Benavides, B</style></author><author><style face="normal" font="default" size="100%">López-Molina, M I</style></author><author><style face="normal" font="default" size="100%">Fernández-Sánchez, L</style></author><author><style face="normal" font="default" size="100%">Sánchez-Alcudia, R</style></author><author><style face="normal" font="default" size="100%">da Silva, L R J</style></author><author><style face="normal" font="default" size="100%">Reyes, N</style></author><author><style face="normal" font="default" size="100%">Martín-Garrido, E</style></author><author><style face="normal" font="default" size="100%">Zurita, O</style></author><author><style face="normal" font="default" size="100%">Fernández-San José, P</style></author><author><style face="normal" font="default" size="100%">Pérez-Carro, R</style></author><author><style face="normal" font="default" size="100%">García-García, F</style></author><author><style face="normal" font="default" size="100%">Dopazo, J</style></author><author><style face="normal" font="default" size="100%">García-Sandoval, B</style></author><author><style face="normal" font="default" size="100%">Cuenca, N</style></author><author><style face="normal" font="default" size="100%">Ayuso, C</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.</style></title><secondary-title><style face="normal" font="default" size="100%">Sci Rep</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Sci Rep</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Co-Repressor Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Codon, Nonsense</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Comparative Genomic Hybridization</style></keyword><keyword><style  face="normal" font="default" size="100%">Consanguinity</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Mutational Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Eye Proteins</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%">Genes, Recessive</style></keyword><keyword><style  face="normal" font="default" size="100%">Homeodomain Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</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%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Interaction Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">Retina</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinal Dystrophies</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinal Rod Photoreceptor Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinitis pigmentosa</style></keyword><keyword><style  face="normal" font="default" size="100%">Spain</style></keyword><keyword><style  face="normal" font="default" size="100%">Trans-Activators</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</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 Oct 13</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">6</style></volume><pages><style face="normal" font="default" size="100%">35370</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Retinitis pigmentosa (RP), the most frequent form of inherited retinal dystrophy is characterized by progressive photoreceptor degeneration. Many genes have been implicated in RP development, but several others remain to be identified. Using a combination of homozygosity mapping, whole-exome and targeted next-generation sequencing, we found a novel homozygous nonsense mutation in SAMD11 in five individuals diagnosed with adult-onset RP from two unrelated consanguineous Spanish families. SAMD11 is ortholog to the mouse major retinal SAM domain (mr-s) protein that is implicated in CRX-mediated transcriptional regulation in the retina. Accordingly, protein-protein network analysis revealed a significant interaction of SAMD11 with CRX. Immunoblotting analysis confirmed strong expression of SAMD11 in human retina. Immunolocalization studies revealed SAMD11 was detected in the three nuclear layers of the human retina and interestingly differential expression between cone and rod photoreceptors was observed. Our study strongly implicates SAMD11 as novel cause of RP playing an important role in the pathogenesis of human degeneration of photoreceptors.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/27734943?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%">Moschen, Sebastián</style></author><author><style face="normal" font="default" size="100%">Bengoa Luoni, Sofía</style></author><author><style face="normal" font="default" size="100%">Di Rienzo, Julio A</style></author><author><style face="normal" font="default" size="100%">Caro, María Del Pilar</style></author><author><style face="normal" font="default" size="100%">Tohge, Takayuki</style></author><author><style face="normal" font="default" size="100%">Watanabe, Mutsumi</style></author><author><style face="normal" font="default" size="100%">Hollmann, Julien</style></author><author><style face="normal" font="default" size="100%">Gonzalez, Sergio</style></author><author><style face="normal" font="default" size="100%">Rivarola, Máximo</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Hopp, Horacio Esteban</style></author><author><style face="normal" font="default" size="100%">Hoefgen, Rainer</style></author><author><style face="normal" font="default" size="100%">Fernie, Alisdair R</style></author><author><style face="normal" font="default" size="100%">Paniego, Norma</style></author><author><style face="normal" font="default" size="100%">Fernandez, Paula</style></author><author><style face="normal" font="default" size="100%">Heinz, Ruth A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Integrating transcriptomic and metabolomic analysis to understand natural leaf senescence in sunflower.</style></title><secondary-title><style face="normal" font="default" size="100%">Plant Biotechnol J</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Plant Biotechnol J</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Gas Chromatography-Mass Spectrometry</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Profiling</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation, Plant</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene ontology</style></keyword><keyword><style  face="normal" font="default" size="100%">Genes, Plant</style></keyword><keyword><style  face="normal" font="default" size="100%">Helianthus</style></keyword><keyword><style  face="normal" font="default" size="100%">Ions</style></keyword><keyword><style  face="normal" font="default" size="100%">metabolomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Oligonucleotide Array Sequence Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Plant Leaves</style></keyword><keyword><style  face="normal" font="default" size="100%">Principal Component Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA, Messenger</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</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 Feb</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">14</style></volume><pages><style face="normal" font="default" size="100%">719-34</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Leaf senescence is a complex process, which has dramatic consequences on crop yield. In sunflower, gap between potential and actual yields reveals the economic impact of senescence. Indeed, sunflower plants are incapable of maintaining their green leaf area over sustained periods. This study characterizes the leaf senescence process in sunflower through a systems biology approach integrating transcriptomic and metabolomic analyses: plants being grown under both glasshouse and field conditions. Our results revealed a correspondence between profile changes detected at the molecular, biochemical and physiological level throughout the progression of leaf senescence measured at different plant developmental stages. Early metabolic changes were detected prior to anthesis and before the onset of the first senescence symptoms, with more pronounced changes observed when physiological and molecular variables were assessed under field conditions. During leaf development, photosynthetic activity and cell growth processes decreased, whereas sucrose, fatty acid, nucleotide and amino acid metabolisms increased. Pathways related to nutrient recycling processes were also up-regulated. Members of the NAC, AP2-EREBP, HB, bZIP and MYB transcription factor families showed high expression levels, and their expression level was highly correlated, suggesting their involvement in sunflower senescence. The results of this study thus contribute to the elucidation of the molecular mechanisms involved in the onset and progression of leaf senescence in sunflower leaves as well as to the identification of candidate genes involved in this process. &lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/26132509?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%">Sevilla, Teresa</style></author><author><style face="normal" font="default" size="100%">Lupo, Vincenzo</style></author><author><style face="normal" font="default" size="100%">Martínez-Rubio, Dolores</style></author><author><style face="normal" font="default" size="100%">Sancho, Paula</style></author><author><style face="normal" font="default" size="100%">Sivera, Rafael</style></author><author><style face="normal" font="default" size="100%">Chumillas, María J</style></author><author><style face="normal" font="default" size="100%">García-Romero, Mar</style></author><author><style face="normal" font="default" size="100%">Pascual-Pascual, Samuel I</style></author><author><style face="normal" font="default" size="100%">Muelas, Nuria</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Vílchez, Juan J</style></author><author><style face="normal" font="default" size="100%">Palau, Francesc</style></author><author><style face="normal" font="default" size="100%">Espinós, Carmen</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.</style></title><secondary-title><style face="normal" font="default" size="100%">Brain</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Brain</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Axons</style></keyword><keyword><style  face="normal" font="default" size="100%">Charcot-Marie-Tooth Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">gene expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</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%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Pedigree</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Sciatic Nerve</style></keyword><keyword><style  face="normal" font="default" size="100%">Sural Nerve</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</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</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">139</style></volume><pages><style face="normal" font="default" size="100%">62-72</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variants. The phenotype was variable and included patients with congenital or infantile onset, as well as others whose symptoms started in the second decade. The patients with early onset developed a spinal muscular atrophy-like picture, whereas in the later onset cases, the initial symptoms were cramps, distal weakness and sensory impairment. Weakness and atrophy progressed in a random and asymmetric fashion and involved limb girdle muscles, leading to a severe incapacity in adulthood. Sensory loss was always prominent and proportional to disease severity. Electrophysiological studies were consistent with an asymmetric axonal motor and sensory neuropathy, while fasciculations and myokymia were recorded rather frequently by needle electromyography. Sural nerve biopsy revealed pronounced multifocal depletion of myelinated fibres with some regenerative clusters and occasional small onion bulbs. Morc2 is expressed in both axons and Schwann cells of mouse peripheral nerve. Different roles in biological processes have been described for MORC2. As the silencing of Charcot-Marie-Tooth disease genes have been associated with DNA damage response, it is tempting to speculate that a deregulation of this pathway may be linked to the axonal degeneration observed in MORC2 neuropathy, thus adding a new pathogenic mechanism to the long list of causes of Charcot-Marie-Tooth disease. &lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">Pt 1</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/26497905?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%">Avila-Fernandez, Almudena</style></author><author><style face="normal" font="default" size="100%">Perez-Carro, Raquel</style></author><author><style face="normal" font="default" size="100%">Corton, Marta</style></author><author><style face="normal" font="default" size="100%">Lopez-Molina, Maria Isabel</style></author><author><style face="normal" font="default" size="100%">Campello, Laura</style></author><author><style face="normal" font="default" size="100%">Garanto, Alejandro</style></author><author><style face="normal" font="default" size="100%">Fernandez-Sanchez, Laura</style></author><author><style face="normal" font="default" size="100%">Duijkers, Lonneke</style></author><author><style face="normal" font="default" size="100%">Lopez-Martinez, Miguel Angel</style></author><author><style face="normal" font="default" size="100%">Riveiro-Alvarez, Rosa</style></author><author><style face="normal" font="default" size="100%">da Silva, Luciana Rodrigues Jacy</style></author><author><style face="normal" font="default" size="100%">Sanchez-Alcudia, Rocío</style></author><author><style face="normal" font="default" size="100%">Martin-Garrido, Esther</style></author><author><style face="normal" font="default" size="100%">Reyes, Noelia</style></author><author><style face="normal" font="default" size="100%">Garcia-Garcia, Francisco</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Garcia-Sandoval, Blanca</style></author><author><style face="normal" font="default" size="100%">Collin, Rob W J</style></author><author><style face="normal" font="default" size="100%">Cuenca, Nicolas</style></author><author><style face="normal" font="default" size="100%">Ayuso, Carmen</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.</style></title><secondary-title><style face="normal" font="default" size="100%">Hum Mol Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Hum Mol Genet</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Amino Acid Sequence</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Chlorocebus aethiops</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosome Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">COS Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA-Binding Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">High-Throughput Nucleotide Sequencing</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Molecular Sequence Data</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutant Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Pedigree</style></keyword><keyword><style  face="normal" font="default" size="100%">Retina</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinal Cone Photoreceptor Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinal Rod Photoreceptor Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Retinitis pigmentosa</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Jul 15</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">24</style></volume><pages><style face="normal" font="default" size="100%">4037-48</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies that cause visual impairment as a result of photoreceptor cell death. RP is heterogeneous, both clinically and genetically making difficult to establish precise genotype-phenotype correlations. In a Spanish family with autosomal recessive RP (arRP), homozygosity mapping and whole-exome sequencing led to the identification of a homozygous mutation (c.358_359delGT; p.Ala122Leufs*2) in the ZNF408 gene. A screening performed in 217 additional unrelated families revealed another homozygous mutation (c.1621C&gt;T; p.Arg541Cys) in an isolated RP case. ZNF408 encodes a transcription factor that harbors 10 predicted C2H2-type fingers thought to be implicated in DNA binding. To elucidate the ZNF408 role in the retina and the pathogenesis of these mutations we have performed different functional studies. By immunohistochemical analysis in healthy human retina, we identified that ZNF408 is expressed in both cone and rod photoreceptors, in a specific type of amacrine and ganglion cells, and in retinal blood vessels. ZNF408 revealed a cytoplasmic localization and a nuclear distribution in areas corresponding with the euchromatin fraction. Immunolocalization studies showed a partial mislocalization of the p.Arg541Cys mutant protein retaining part of the WT protein in the cytoplasm. Our study demonstrates that ZNF408, previously associated with Familial Exudative Vitreoretinopathy (FEVR), is a new gene causing arRP with vitreous condensations supporting the evidence that this protein plays additional functions into the human retina. &lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">14</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/25882705?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%">Bleda, Marta</style></author><author><style face="normal" font="default" size="100%">Medina, Ignacio</style></author><author><style face="normal" font="default" size="100%">Alonso, Roberto</style></author><author><style face="normal" font="default" size="100%">De Maria, Alejandro</style></author><author><style face="normal" font="default" size="100%">Salavert, Francisco</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Inferring the regulatory network behind a gene expression experiment.</style></title><secondary-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Binding Sites</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Fanconi Anemia</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Regulatory Networks</style></keyword><keyword><style  face="normal" font="default" size="100%">Internet</style></keyword><keyword><style  face="normal" font="default" size="100%">MicroRNAs</style></keyword><keyword><style  face="normal" font="default" size="100%">Software</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcriptome</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2012 Jul</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">40</style></volume><pages><style face="normal" font="default" size="100%">W168-72</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Transcription factors (TFs) and miRNAs are the most important dynamic regulators in the control of gene expression in multicellular organisms. These regulatory elements play crucial roles in development, cell cycling and cell signaling, and they have also been associated with many diseases. The Regulatory Network Analysis Tool (RENATO) web server makes the exploration of regulatory networks easy, enabling a better understanding of functional modularity and network integrity under specific perturbations. RENATO is suitable for the analysis of the result of expression profiling experiments. The program analyses lists of genes and search for the regulators compatible with its activation or deactivation. Tests of single enrichment or gene set enrichment allow the selection of the subset of TFs or miRNAs significantly involved in the regulation of the query genes. RENATO also offers an interactive advanced graphical interface that allows exploring the regulatory network found.RENATO is available at: http://renato.bioinfo.cipf.es/.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">Web Server issue</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/22693210?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%">Reumers, Joke</style></author><author><style face="normal" font="default" size="100%">Conde, Lucia</style></author><author><style face="normal" font="default" size="100%">Medina, Ignacio</style></author><author><style face="normal" font="default" size="100%">Maurer-Stroh, Sebastian</style></author><author><style face="normal" font="default" size="100%">Van Durme, Joost</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Rousseau, Frederic</style></author><author><style face="normal" font="default" size="100%">Schymkowitz, Joost</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases.</style></title><secondary-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Amino Acid Substitution</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Diseases, Inborn</style></keyword><keyword><style  face="normal" font="default" size="100%">HSP70 Heat-Shock Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Internet</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">MicroRNAs</style></keyword><keyword><style  face="normal" font="default" size="100%">mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Rats</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA Splice Sites</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2008</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2008 Jan</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">36</style></volume><pages><style face="normal" font="default" size="100%">D825-9</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Single nucleotide polymorphisms (SNPs) are, together with copy number variation, the primary source of variation in the human genome. SNPs are associated with altered response to drug treatment, susceptibility to disease and other phenotypic variation. Furthermore, during genetic screens for disease-associated mutations in groups of patients and control individuals, the distinction between disease causing mutation and polymorphism is often unclear. Annotation of the functional and structural implications of single nucleotide changes thus provides valuable information to interpret and guide experiments. The SNPeffect and PupaSuite databases are now synchronized to deliver annotations for both non-coding and coding SNP, as well as annotations for the SwissProt set of human disease mutations. In addition, SNPeffect now contains predictions of Tango2: an improved aggregation detector, and Waltz: a novel predictor of amyloid-forming sequences, as well as improved predictors for regions that are recognized by the Hsp70 family of chaperones. The new PupaSuite version incorporates predictions for SNPs in silencers and miRNAs including their targets, as well as additional methods for predicting SNPs in TFBSs and splice sites. Also predictions for mouse and rat genomes have been added. In addition, a PupaSuite web service has been developed to enable data access, programmatically. The combined database holds annotations for 4,965,073 regulatory as well as 133,505 coding human SNPs and 14,935 disease mutations, and phenotypic descriptions of 43,797 human proteins and is accessible via http://snpeffect.vib.be and http://pupasuite.bioinfo.cipf.es/.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">Database issue</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/18086700?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%">Al-Shahrour, Fátima</style></author><author><style face="normal" font="default" size="100%">Minguez, Pablo</style></author><author><style face="normal" font="default" size="100%">Tárraga, Joaquín</style></author><author><style face="normal" font="default" size="100%">Medina, Ignacio</style></author><author><style face="normal" font="default" size="100%">Alloza, Eva</style></author><author><style face="normal" font="default" size="100%">Montaner, David</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">FatiGO +: a functional profiling tool for genomic data. Integration of functional annotation, regulatory motifs and interaction data with microarray experiments.</style></title><secondary-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nucleic Acids Res</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Amino Acid Motifs</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Binding Sites</style></keyword><keyword><style  face="normal" font="default" size="100%">Computational Biology</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Profiling</style></keyword><keyword><style  face="normal" font="default" size="100%">Genes</style></keyword><keyword><style  face="normal" font="default" size="100%">Genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Internet</style></keyword><keyword><style  face="normal" font="default" size="100%">Oligonucleotide Array Sequence Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Programming Languages</style></keyword><keyword><style  face="normal" font="default" size="100%">Software</style></keyword><keyword><style  face="normal" font="default" size="100%">Systems Integration</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2007</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2007 Jul</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">35</style></volume><pages><style face="normal" font="default" size="100%">W91-6</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The ultimate goal of any genome-scale experiment is to provide a functional interpretation of the data, relating the available information with the hypotheses that originated the experiment. Thus, functional profiling methods have become essential in diverse scenarios such as microarray experiments, proteomics, etc. We present the FatiGO+, a web-based tool for the functional profiling of genome-scale experiments, specially oriented to the interpretation of microarray experiments. In addition to different functional annotations (gene ontology, KEGG pathways, Interpro motifs, Swissprot keywords and text-mining based bioentities related to diseases and chemical compounds) FatiGO+ includes, as a novelty, regulatory and structural information. The regulatory information used includes predictions of targets for distinct regulatory elements (obtained from the Transfac and CisRed databases). Additionally FatiGO+ uses predictions of target motifs of miRNA to infer which of these can be activated or deactivated in the sample of genes studied. Finally, properties of gene products related to their relative location and connections in the interactome have also been used. Also, enrichment of any of these functional terms can be directly analysed on chromosomal coordinates. FatiGO+ can be found at: http://www.fatigoplus.org and within the Babelomics environment http://www.babelomics.org.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">Web Server issue</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/17478504?dopt=Abstract</style></custom1></record></records></xml>