Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (18)

2024

  1. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

    Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi

    Molecular Therapy Nucleic Acids, Vol. 34

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2020

  1. Lncrna-mrna co-expression analysis identifies al133346.1/ccn2 as biomarkers in pediatric b-cell acute lymphoblastic leukemia

    Cancers, Vol. 12, Núm. 12, pp. 1-15

2019

  1. MMP-12, secreted by pro-inflammatory macrophages, targets endoglin in human macrophages and endothelial cells

    International Journal of Molecular Sciences, Vol. 20, Núm. 12

2018

  1. Human endoglin as a potential new partner involved in platelet–endothelium interactions

    Cellular and Molecular Life Sciences, Vol. 75, Núm. 7, pp. 1269-1284

2016

  1. Mice Lacking Endoglin in Macrophages Show an Impaired Immune Response

    PLoS Genetics, Vol. 12, Núm. 3

  2. Transcription factor KLF6 upregulates expression of metalloprotease MMP14 and subsequent release of soluble endoglin during vascular injury

    Angiogenesis, Vol. 19, Núm. 2, pp. 155-171

2015

  1. Genome-Wide transcriptional and functional analysis of endoglin isoforms in the human promonocytic cell line U937

    Journal of Cellular Physiology, Vol. 230, Núm. 4, pp. 947-958

2014

  1. Expression of endoglin isoforms in the myeloid lineage and their role during aging and macrophage polarization

    Journal of Cell Science, Vol. 127, Núm. 12, pp. 2723-2735

2013

  1. Vascular injury triggers Krüppel-like factor 6 mobilization and cooperation with specificity protein 1 to promote endothelial activation through upregulation of the activin receptor-like kinase 1 gene

    Circulation Research, Vol. 112, Núm. 1, pp. 113-127

2012

  1. Characterization of chicken endoglin, a member of the zona pellucida family of proteins, and its tissue expression

    Gene, Vol. 491, Núm. 1, pp. 31-39

  2. The splicing factor SRSF1 as a marker for endothelial senescence

    Frontiers in Physiology

2011

  1. 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

    Orphanet Journal of Rare Diseases, Vol. 6, Núm. 1

  2. Activin A skews macrophage polarization by promoting a proinflammatory phenotype and inhibiting the acquisition of anti-inflammatory macrophage markers

    Blood, Vol. 117, Núm. 19, pp. 5092-5101

  3. Alternative splicing factor or splicing factor-2 plays a key role in intron retention of the endoglin gene during endothelial senescence

    Aging Cell, Vol. 10, Núm. 5, pp. 896-907

2010

  1. Characterization of the human Activin-A receptor type II-like kinase 1 (ACVRL1) promoter and its regulation by Sp1

    BMC Molecular Biology, Vol. 11