Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (17)

2024

  1. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

  2. Succinate Dehydrogenase and Human Disease: Novel Insights into a Well-Known Enzyme

    Biomedicines, Vol. 12, Núm. 9

2023

  1. Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions

    PLoS ONE, Vol. 18, Núm. 9 September

  2. Driving role of head and neck cancer cell secretome on the invasion of stromal fibroblasts: Mechanistic insights by phosphoproteomics

    Biomedicine and Pharmacotherapy, Vol. 158

  3. The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages

    iScience, Vol. 26, Núm. 8

2022

  1. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

    Cancers, Vol. 14, Núm. 19

2020

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225

  2. Sfrp1 deficiency makes retinal photoreceptors prone to degeneration

    Scientific reports, Vol. 10, Núm. 1, pp. 5115

2019

  1. c-Met Signaling Is Essential for Mouse Adult Liver Progenitor Cells Expansion After Transforming Growth Factor-β-Induced Epithelial–Mesenchymal Transition and Regulates Cell Phenotypic Switch

    Stem Cells, Vol. 37, Núm. 8, pp. 1108-1118

2018

  1. Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

    British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206

2016

  1. Dissecting the role of epidermal growth factor receptor catalytic activity during liver regeneration and hepatocarcinogenesis

    Hepatology, Vol. 63, Núm. 2, pp. 604-619

  2. 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

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

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

  4. Overexpression of the short endoglin isoform reduces renal fibrosis and inflammation after unilateral ureteral obstruction

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1862, Núm. 9, pp. 1801-1814

2013

  1. Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry

    Neurobiology of Disease, Vol. 55, pp. 140-151

2012

  1. C3G transgenic mouse models with specific expression in platelets reveal a new role for C3G in platelet clotting through its GEF activity

    Biochimica et Biophysica Acta - Molecular Cell Research, Vol. 1823, Núm. 8, pp. 1366-1377

2010

  1. Are elite endurance athletes genetically predisposed to lower disease risk?

    Physiological Genomics, Vol. 41, Núm. 1, pp. 82-90