Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (23)

2024

  1. A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

    BMC Genomics, Vol. 25, Núm. 1

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. CRISPR/dCAS9-mediated DNA demethylation screen identifies functional epigenetic determinants of colorectal cancer

    Clinical Epigenetics, Vol. 15, Núm. 1

  3. Maternal obesity and gestational diabetes reprogram the methylome of offspring beyond birth by inducing epigenetic signatures in metabolic and developmental pathways

    Cardiovascular Diabetology, Vol. 22, Núm. 1

  4. 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

  5. Multi-omic integration of DNA methylation and gene expression data reveals molecular vulnerabilities in glioblastoma

    Molecular Oncology, Vol. 17, Núm. 9, pp. 1726-1743

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

    Biomedicines, Vol. 11, Núm. 7

  7. Nicotinamide N-methyltransferase (NNMT) regulates the glucocorticoid signaling pathway during the early phase of adipogenesis

    Scientific Reports, Vol. 13, Núm. 1

  8. 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

2022

  1. Aging and cancer epigenetics: Where do the paths fork?

    Aging Cell, Vol. 21, Núm. 10

  2. Enhanced Detection of Viral RNA Species Using FokI-Assisted Digestion of DNA Duplexes and DNA/RNA Hybrids

    Analytical Chemistry, Vol. 94, Núm. 18, pp. 6760-6770

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