One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
Argente, Jesús, Chowen, Julie A, Pérez‐Jurado, Luis A, Frystyk, Jan, Oxvig, Claus
Published in EMBO molecular medicine (01.10.2017)
Published in EMBO molecular medicine (01.10.2017)
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Extreme Downregulation of Chromosome Y and Cancer Risk in Men
Cáceres, Alejandro, Jene, Aina, Esko, Tonu, Pérez-Jurado, Luis A, González, Juan R
Published in JNCI : Journal of the National Cancer Institute (01.09.2020)
Published in JNCI : Journal of the National Cancer Institute (01.09.2020)
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NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders
Ruiz-Arenas, Carlos, Marín-Goñi, Irene, Wang, Liewei, Ochoa, Idoia, Pérez-Jurado, Luis A, Hernaez, Mikel
Published in Nucleic acids research (22.05.2024)
Published in Nucleic acids research (22.05.2024)
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NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine
Abulí, Anna, Boada, Montserrat, Rodríguez-Santiago, Benjamín, Coroleu, Buenaventura, Veiga, Anna, Armengol, Lluís, Barri, Pedro N., Pérez-Jurado, Luis A., Estivill, Xavier
Published in Human mutation (01.06.2016)
Published in Human mutation (01.06.2016)
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Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family
Babiker, Amir, Al Noaim, Khalid, Al Swaid, Abdulrahman, Alfadhel, Majid, Deeb, Asma, Martín‐Rivada, Álvaro, Barrios, Vicente, Pérez‐Jurado, Luis A., Alfares, Ahmed, Al Alwan, Ibrahim, Argente, Jesús
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability
Dauber, Andrew, Muñoz‐Calvo, María T, Barrios, Vicente, Domené, Horacio M, Kloverpris, Soren, Serra‐Juhé, Clara, Desikan, Vardhini, Pozo, Jesús, Muzumdar, Radhika, Martos‐Moreno, Gabriel Á, Hawkins, Federico, Jasper, Héctor G, Conover, Cheryl A, Frystyk, Jan, Yakar, Shoshana, Hwa, Vivian, Chowen, Julie A, Oxvig, Claus, Rosenfeld, Ron G, Pérez‐Jurado, Luis A, Argente, Jesús
Published in EMBO molecular medicine (01.04.2016)
Published in EMBO molecular medicine (01.04.2016)
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DNA methylation abnormalities in congenital heart disease
Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A
Published in Epigenetics (2015)
Published in Epigenetics (2015)
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Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder
Segura-Puimedon, Maria, Sahún, Ignasi, Velot, Emilie, Dubus, Pierre, Borralleras, Cristina, Rodrigues, Ana J, Valero, María C, Valverde, Olga, Sousa, Nuno, Herault, Yann, Dierssen, Mara, Pérez-Jurado, Luis A, Campuzano, Victoria
Published in Human molecular genetics (15.12.2014)
Published in Human molecular genetics (15.12.2014)
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Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes
Vilardell, Mireia, Rasche, Axel, Thormann, Anja, Maschke-Dutz, Elisabeth, Pérez-Jurado, Luis A, Lehrach, Hans, Herwig, Ralf
Published in BMC genomics (11.05.2011)
Published in BMC genomics (11.05.2011)
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Mutational Mechanisms of Williams-Beuren Syndrome Deletions
Bayés, Mònica, Magano, Luis F., Rivera, Núria, Flores, Raquel, A. Pérez Jurado, Luis
Published in American journal of human genetics (01.07.2003)
Published in American journal of human genetics (01.07.2003)
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Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model
Ortiz-Romero, Paula, Borralleras, Cristina, Bosch-Morató, Mònica, Guivernau, Biuse, Albericio, Guillermo, Muñoz, Francisco J, Pérez-Jurado, Luis A, Campuzano, Victoria
Published in PloS one (19.03.2018)
Published in PloS one (19.03.2018)
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The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams-Beuren Syndrome Mouse Model
Abdalla, Noura, Ortiz-Romero, Paula, Rodriguez-Rovira, Isaac, Pérez-Jurado, Luis A, Egea, Gustavo, Campuzano, Victoria
Published in International journal of molecular sciences (01.02.2023)
Published in International journal of molecular sciences (01.02.2023)
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Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
Argente, Jesús, Flores, Raquel, Gutiérrez‐Arumí, Armand, Verma, Bhupendra, Martos‐Moreno, Gabriel Á, Cuscó, Ivon, Oghabian, Ali, Chowen, Julie A, Frilander, Mikko J, Pérez‐Jurado, Luis A
Published in EMBO molecular medicine (01.03.2014)
Published in EMBO molecular medicine (01.03.2014)
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A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity
González, Juan R., Cáceres, Alejandro, Esko, Tonu, Cuscó, Ivon, Puig, Marta, Esnaola, Mikel, Reina, Judith, Siroux, Valerie, Bouzigon, Emmanuelle, Nadif, Rachel, Reinmaa, Eva, Milani, Lili, Bustamante, Mariona, Jarvis, Deborah, Antó, Josep M., Sunyer, Jordi, Demenais, Florence, Kogevinas, Manolis, Metspalu, Andres, Cáceres, Mario, Pérez-Jurado, Luis A.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor
Tenorio, Jair, Nevado, Julián, González‐Meneses, Antonio, Arias, Pedro, Dapía, Irene, Venegas‐Vega, Carlos A., Calvente, María, Hernández, Alicia, Landera, Leandro, Ramos, Sergio, Cigudosa, Juan Cruz, Pérez‐Jurado, Luis A., Lapunzina, Pablo
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
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Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance
Thai, Monica H. N., Gardner, Alison, Redpath, Laura, Mattiske, Tessa, Dearsley, Oliver, Shaw, Marie, Vulto‐van Silfhout, Anneke T., Pfundt, Rolph, Dixon, Joanne, McGaughran, Julie, Pérez‐Jurado, Luis A., Gécz, Jozef, Shoubridge, Cheryl
Published in Human mutation (01.08.2020)
Published in Human mutation (01.08.2020)
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Co-Treatment With Verapamil and Curcumin Attenuates the Behavioral Alterations Observed in Williams–Beuren Syndrome Mice by Regulation of MAPK Pathway and Microglia Overexpression
Ortiz-Romero, Paula, González-Simón, Alejandro, Egea, Gustavo, Pérez-Jurado, Luis A., Campuzano, Victoria
Published in Frontiers in pharmacology (03.08.2021)
Published in Frontiers in pharmacology (03.08.2021)
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Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package
Ruiz-Arenas, Carlos, Abarrategui, Leire, Hernandez-Ferrer, Carles, Escribà-Montagut, Xavier, Pelegrí-Sisó, Dolors, Ryser-Welch, Patricia, Vrijheid, Martine, Bustamante, Mariona, Grazuleviciene, Regina, Lepeule, Johanna, Mathai, Mathew, Vafeiadi, Marina, Beltran, Sergi, Pérez-Jurado, Luis A, González, Juan R
Published in Epigenetics (31.12.2023)
Published in Epigenetics (31.12.2023)
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