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Pérez-Jurado, Luis A. [Author]; Cáceres, Alejandro [Author]; Balagué-Dobón, Laura [Author]; Esko, Tonu [Author]; Heredia, Miguel López de [Author]; Quintela, Inés [Author]; Cruz, Raquel [Author]; Lapunzina, Pablo [Author]; Carracedo, Ángel [Author]; González, Juan R. [Author] ; Cortés-Sánchez, Jose L. [Contributor]

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

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2024

Published in: Communications biology ; 7(2024), Artikel-ID 202
Pérez-Jurado, Luis A.; Francke, Uta

Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene

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Oxford University Press (OUP), 1993

Published in: Human Molecular Genetics, 2 (1993) 6, Seite 827-827
de Luis, Oscar; Valero, M Carmen; Pérez Jurado, Luis A

WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog

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Springer Science and Business Media LLC, 2000

Published in: European Journal of Human Genetics, 8 (2000) 3, Seite 215-222
Rovira-López, Roger; Pérez-Jurado, Luis A.; Pujol, Ramon M.

Macrocheilia as an Atypical Clinical Presentation of Capillary Malformation–Arteriovenous Malformation Type 2

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American Medical Association (AMA), 2024

Published in: JAMA Dermatology, 160 (2024) 4, Seite 474
Borralleras, Cristina; Sahun, Ignasi; Pérez-Jurado, Luis A; Campuzano, Victoria

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

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Elsevier BV, 2015

Published in: Molecular Therapy, 23 (2015) 11, Seite 1691-1699
Antonell, Anna; Vilardell, Mireia; Pérez Jurado, Luis A.

Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits

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Springer Science and Business Media LLC, 2010

Published in: Human Genetics, 128 (2010) 1, Seite 27-37
Jurado, Luis A.Pérez; Coloma, Antonio; Cruces, Jesús

Identification of a Human Homolog of the Drosophila rotated abdomen Gene (POMT1) Encoding a Putative Protein O-Mannosyl-Transferase, and Assignment to Human Chromosome 9q34.1

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Elsevier BV, 1999

Published in: Genomics, 58 (1999) 2, Seite 171-180
Wang, Yu-Ker; Pérez-Jurado, Luis A.; Francke, Uta

A Mouse Single-Copy Gene,Gtf2i,the Homolog of HumanGTF2I,That Is Duplicated in the Williams–Beuren Syndrome Deletion Region

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Elsevier BV, 1998

Published in: Genomics, 48 (1998) 2, Seite 163-170
Bayés, Mònica; Magano, Luis F.; Rivera, Núria; Flores, Raquel; A. Pérez Jurado, Luis

Mutational Mechanisms of Williams-Beuren Syndrome Deletions

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Elsevier BV, 2003

Published in: The American Journal of Human Genetics, 73 (2003) 1, Seite 131-151
Valero, M.Carmen; de Luis, Oscar; Cruces, Jesús; Pérez Jurado, Luis A.

Fine-Scale Comparative Mapping of the Human 7q11.23 Region and the Orthologous Region on Mouse Chromosome 5G: The Low-Copy Repeats That Flank the Williams–Beuren Syndrome Deletion Arose at Breakpoint Sites of an Evolutionary Inversion(s)

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Elsevier BV, 2000

Published in: Genomics, 69 (2000) 1, Seite 1-13
Martos-Moreno, Gabriel Á; Moeller, Ida Hatoum; Martín-Rivada, Álvaro; Pérez-Jurado, Luis A; Argente, Jesús

OR22-05 Rare Biallelic Variants in Obesity-Related Genes in the Madrid Pediatric Obesity Cohort

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The Endocrine Society, 2020

Published in: Journal of the Endocrine Society, 4 (2020) Supplement_1
Argente, Jesús; Chowen, Julie A; Pérez‐Jurado, Luis A; Frystyk, Jan; Oxvig, Claus

One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology

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Springer Science and Business Media LLC, 2017

Published in: EMBO Molecular Medicine, 9 (2017) 10, Seite 1338-1345
Ruiz-Arenas, Carlos; Marín-Goñi, Irene; Wang, Liewei; Ochoa, Idoia; Pérez-Jurado, Luis A; Hernaez, Mikel

NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders

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Oxford University Press (OUP), 2024

Published in: Nucleic Acids Research, 52 (2024) 9, Seite e44-e44
Abdalla, Noura; Ortiz-Romero, Paula; Rodriguez-Rovira, Isaac; Pérez-Jurado, Luis A.; Egea, Gustavo; Campuzano, Victoria

The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams–Beuren Syndrome Mouse Model

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MDPI AG, 2023

Published in: International Journal of Molecular Sciences, 24 (2023) 4, Seite 3261
Pesqué, David; March-Rodriguez, Álvaro; Abreu-Rodríguez, Irene; Pérez-Jurado, Luis A; Pujol, Ramon M

Familial isolated acanthosis nigricans as a result of a recurrent FGFR3 truncating mutation

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Oxford University Press (OUP), 2023

Published in: Clinical and Experimental Dermatology, 48 (2023) 6, Seite 729-732
Ortiz-Romero, Paula; González-Simón, Alejandro; Egea, Gustavo; Pérez-Jurado, Luis A.; Campuzano, Victoria

Co-Treatment With Verapamil and Curcumin Attenuates the Behavioral Alterations Observed in Williams–Beuren Syndrome Mice by Regulation of MAPK Pathway and Microglia Overexpression

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Frontiers Media SA, 2021

Published in: Frontiers in Pharmacology, 12 (2021)
Cáceres, Alejandro; Jene, Aina; Esko, Tonu; Pérez-Jurado, Luis A; González, Juan R

Extreme Downregulation of Chromosome Y and Cancer Risk in Men

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Oxford University Press (OUP), 2020

Published in: JNCI: Journal of the National Cancer Institute, 112 (2020) 9, Seite 913-920
González, Juan R.; López-Sánchez, Marcos; Cáceres, Alejandro; Puig, Pere; Esko, Tonu; Pérez-Jurado, Luis A.

MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

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Springer Science and Business Media LLC, 2020

Published in: BMC Bioinformatics, 21 (2020) 1
Tran, Alain K.; Pearce, Annette; López‐Sánchez, Marcos; Pérez‐Jurado, Luis A.; Barnett, Christopher

Novel KIT mutation presenting as marked lentiginosis

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Wiley, 2019

Published in: Pediatric Dermatology, 36 (2019) 6, Seite 922-925
Codina-Solà, Marta; Pérez-Jurado, Luis A.; Cuscó, Ivon; Serra-Juhé, Clara

Provision of Genetic Services for Autism and its Impact on Spanish Families

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Springer Science and Business Media LLC, 2017

Published in: Journal of Autism and Developmental Disorders, 47 (2017) 10, Seite 2947-2956

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