Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (16)

2023

  1. Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

    International Journal of Molecular Sciences, Vol. 24, Núm. 16

  2. Mice inflammatory responses to inhaled aerosolized LPS: effects of various forms of human alpha1-antitrypsin

    Journal of leukocyte biology, Vol. 113, Núm. 1, pp. 58-70

  3. NAFLD and AATD Are Two Diseases with Unbalanced Lipid Metabolism: Similarities and Differences

    Biomedicines, Vol. 11, Núm. 7

  4. Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin

    International Journal of Molecular Sciences, Vol. 24, Núm. 15

2017

  1. A comparative study of drug delivery methods targeted to the mouse inner ear: Bullostomy Versus transtympanic injection

    Journal of Visualized Experiments, Vol. 2017, Núm. 121

2016

  1. Systematic identification of phenotypically enriched loci using a patient network of genomic disorders

    BMC Genomics, Vol. 17, Núm. 1

2015

  1. Kpath: Integration of metabolic pathway linked data

    Database, Vol. 2015

  2. Role of cannabinoid receptor CB<inf>2</inf> in HER2 pro-oncogenic signaling in breast cancer

    Journal of the National Cancer Institute, Vol. 107, Núm. 6

2014

  1. PhenUMA: A tool for integrating the biomedical relationships among genes and diseases

    BMC Bioinformatics, Vol. 15, Núm. 1

2013

  1. Global Analysis of the Human Pathophenotypic Similarity Gene Network Merges Disease Module Components

    PLoS ONE, Vol. 8, Núm. 2

  2. XProgrammed cell senescence during mammalian embryonic development

    Cell, Vol. 155, Núm. 5, pp. 1104

2012

  1. A combined model of hepatic polyamine and sulfur amino acid metabolism to analyze S-adenosyl methionine availability

    Amino Acids, Vol. 42, Núm. 2-3, pp. 597-610

  2. Histamine: An undercover agent in multiple rare diseases?

    Journal of Cellular and Molecular Medicine, Vol. 16, Núm. 9, pp. 1947-1960

  3. What is known on angiogenesis-related rare diseases? A systematic review of literature

    Journal of Cellular and Molecular Medicine, Vol. 16, Núm. 12, pp. 2872-2893

2010

  1. A comparative study of age-related hearing loss in wild type and insulin-like growth factor I deficient mice

    Frontiers in Neuroanatomy

  2. Melanin precursors prevent premature age-related and noise-induced hearing loss in albino mice

    Pigment Cell and Melanoma Research, Vol. 23, Núm. 1, pp. 72-83