Publicacions
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Martinez-Pizarro, Ainhoa, Pico, Sara, López-Marquez A, Rodriguez-Lopez, Claudia, Montalvo, Elena, Alvarez, Mar, Castro, Margarita, Ramon-Maiques, Santiago, Perez, Belen, Lucas, Jose J., Richard, Eva and Desviat, Lourdes R..
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
HUMAN MOLECULAR GENETICS . 33(12): 1074-1089.
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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. Nº de cites: 3
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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. Nº de cites: 3
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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. Nº de cites: 9
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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. Nº de cites: 7
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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. Nº de cites: 1
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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. Nº de cites: 22
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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. Nº de cites: 1
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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. Nº de cites: 5
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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. Nº de cites: 14