Publicacions en col·laboració amb investigadors/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (11)

2023

  1. Correlation Between Endoglin and Malignant Phenotype in Human Melanoma Cells: Analysis of hsa-mir-214 and hsa-mir-370 in Cells and Their Extracellular Vesicles

    Advances in experimental medicine and biology, Vol. 1408, pp. 253-272

2022

  1. Multiple ciliary localization signals control INPP5E ciliary targeting

    eLife, Vol. 11

2019

  1. Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia

    Gene, Vol. 696, pp. 33-39

2018

  1. Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy

    Scientific Reports, Vol. 8, Núm. 1

  2. Thyroid Hormone Receptors Regulate the Expression of microRNAs with Key Roles in Skin Homeostasis

    Thyroid, Vol. 28, Núm. 7, pp. 921-932

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2013

  1. Triplication of dyrk1a causes retinal structural and functional alterations in down syndrome

    Human Molecular Genetics, Vol. 22, Núm. 14, pp. 2275-2284

2012

  1. A DNA methylation fingerprint of 1628 human samples

    Genome Research, Vol. 22, Núm. 2, pp. 407-419

  2. Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1822, Núm. 8, pp. 1258-1269

2008

  1. The Protein Kinase DYRK1A Regulates Caspase-9-Mediated Apoptosis during Retina Development

    Developmental Cell, Vol. 15, Núm. 6, pp. 841-853