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Publications

  • Castroflorio E, Pérez Berná AJ, López-Marquez A, Badosa-Gallego MC, Loza-Alvarez P, Roldan-Molina M and Jimenez-Mallebrera C.

    The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(14): 1-15. Number of citations: 3

    [doi:10.3390/ijms23147651]

  • Almici E, Chiappini V, López-Marquez A, Badosa-Gallego MC, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento-Osorio A, Roldan-Molina M, Lagunas A, Jimenez-Mallebrera C and Samitier J.

    Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies

    Frontiers in Bioengineering and Biotechnology . 10: 851825-851825. Number of citations: 3

    [doi:10.3389/fbioe.2022.851825]

  • López-Marquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldan-Molina M, Moreno-Pelayo MÁ and Jimenez-Mallebrera C.

    CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): 4410. Number of citations: 4

    [doi:10.3390/ijms23084410]

  • López-Marquez A, Carrasco-López C, Martínez-Cano A, Lemoine P, Pierreux CE and Santisteban P.

    Sox9 is involved in the thyroid differentiation program and is regulated by crosstalk between TSH, TGFß and thyroid transcription factors

    SCIENTIFIC REPORTS . 12(1): 2144-2144. Number of citations: 4

    [doi:10.1038/s41598-022-06004-1]

  • López-Marquez A, Martínez-Pizarro A, Pérez B, Richard E and Desviat LR.

    Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.

    Methods In Molecular Biology (clifton, N.J.) . 2434: 167-184. Number of citations: 1

    [doi:10.1007/978-1-0716-2010-6_10]

  • López-Marquez A, Carrasco-López C, Fernández-Méndez C and Santisteban P.

    Unraveling the Complex Interplay Between Transcription Factors and Signaling Molecules in Thyroid Differentiation and Function, From Embryos to Adults

    Frontiers in Endocrinology . 12: 654569-654569. Number of citations: 16

    [doi:10.3389/fendo.2021.654569]

  • Fulgencio-Covian, A, Alvarez, M, Pepers, BA, López-Marquez A, Ugarte, M, Perez, B, van Roon-Mom, WMC, Desviat, LR and Richard, E.

    Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology

    STEM CELL RESEARCH . 49: 102055-102055. Number of citations: 1

    [doi:10.1016/j.scr.2020.102055]

  • López-Marquez A, Alonso-Barroso E, Cerro-Tello G, Bravo-Alonso I, Arribas-Carreira L, Briso-Montiano Á, Navarrete R, Pérez-Cerdá C, Ugarte M, Pérez B, Desviat LR and Richard E.

    Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

    STEM CELL RESEARCH . 38: 101469-101469. Number of citations: 5

    [doi:10.1016/j.scr.2019.101469]

  • López-Marquez A, Fernández-Méndez C, Recacha P and Santisteban P.

    Regulation of Foxe1 by Thyrotropin and Transforming Growth Factor Beta Depends on the Interplay Between Thyroid-Specific, CREB and SMAD Transcription Factors

    THYROID . 29(5): 714-725. Number of citations: 13

    [doi:10.1089/thy.2018.0136]

  • Fernández LP, López-Marquez A and Santisteban P.

    Thyroid transcription factors in development, differentiation and disease

    NATURE REVIEWS ENDOCRINOLOGY . 11(1): 29-42. Number of citations: 171

    [doi:10.1038/nrendo.2014.186]