<?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%">Puerto-Camacho, Pilar</style></author><author><style face="normal" font="default" size="100%">Diaz-Martin, Juan</style></author><author><style face="normal" font="default" size="100%">Olmedo-Pelayo, Joaquín</style></author><author><style face="normal" font="default" size="100%">Bolado-Carrancio, Alfonso</style></author><author><style face="normal" font="default" size="100%">Salguero-Aranda, Carmen</style></author><author><style face="normal" font="default" size="100%">Jordán-Pérez, Carmen</style></author><author><style face="normal" font="default" size="100%">Esteban-Medina, Marina</style></author><author><style face="normal" font="default" size="100%">Alamo-Alvarez, Inmaculada</style></author><author><style face="normal" font="default" size="100%">Delgado-Bellido, Daniel</style></author><author><style face="normal" font="default" size="100%">Lobo-Selma, Laura</style></author><author><style face="normal" font="default" size="100%">Dopazo, Joaquin</style></author><author><style face="normal" font="default" size="100%">Sastre, Ana</style></author><author><style face="normal" font="default" size="100%">Alonso, Javier</style></author><author><style face="normal" font="default" size="100%">Grünewald, Thomas G P</style></author><author><style face="normal" font="default" size="100%">Bernabeu, Carmelo</style></author><author><style face="normal" font="default" size="100%">Byron, Adam</style></author><author><style face="normal" font="default" size="100%">Brunton, Valerie G</style></author><author><style face="normal" font="default" size="100%">Amaral, Ana Teresa</style></author><author><style face="normal" font="default" size="100%">de Alava, Enrique</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Endoglin and MMP14 Contribute to Ewing Sarcoma Spreading by Modulation of Cell-Matrix Interactions.</style></title><secondary-title><style face="normal" font="default" size="100%">Int J Mol Sci</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Int J Mol Sci</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Bone Neoplasms</style></keyword><keyword><style  face="normal" font="default" size="100%">Endoglin</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Matrix Metalloproteinase 14</style></keyword><keyword><style  face="normal" font="default" size="100%">Proteomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, Growth Factor</style></keyword><keyword><style  face="normal" font="default" size="100%">Sarcoma, Ewing</style></keyword><keyword><style  face="normal" font="default" size="100%">Signal Transduction</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2022</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2022 Aug 04</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">23</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Endoglin (ENG) is a mesenchymal stem cell (MSC) marker typically expressed by active endothelium. This transmembrane glycoprotein is shed by matrix metalloproteinase 14 (MMP14). Our previous work demonstrated potent preclinical activity of first-in-class anti-ENG antibody-drug conjugates as a nascent strategy to eradicate Ewing sarcoma (ES), a devastating rare bone/soft tissue cancer with a putative MSC origin. We also defined a correlation between ENG and MMP14 expression in ES. Herein, we show that ENG expression is significantly associated with a dismal prognosis in a large cohort of ES patients. Moreover, both ENG/MMP14 are frequently expressed in primary ES tumors and metastasis. To deepen in their functional relevance in ES, we conducted transcriptomic and proteomic profiling of in vitro ES models that unveiled a key role of ENG and MMP14 in cell mechano-transduction. Migration and adhesion assays confirmed that loss of ENG disrupts actin filament assembly and filopodia formation, with a concomitant effect on cell spreading. Furthermore, we observed that ENG regulates cell-matrix interaction through activation of focal adhesion signaling and protein kinase C expression. In turn, loss of MMP14 contributed to a more adhesive phenotype of ES cells by modulating the transcriptional extracellular matrix dynamics. Overall, these results suggest that ENG and MMP14 exert a significant role in mediating correct spreading machinery of ES cells, impacting the aggressiveness of the disease.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">15</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%">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></records></xml>