Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Julián, Pérez Pérez"'
Autor:
Pablo Agüero-Rabes, Julián Pérez-Pérez, Lucía Cremades-Jimeno, María-Salud García-Ayllón, Adriana Gea-González, María José Sainz, Ignacio Mahillo-Fernández, Raquel Téllez, Blanca Cárdaba, Javier Sáez-Valero, Estrella Gómez-Tortosa
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 7, p 6113 (2023)
ADAM10 is the main α-secretase acting in the non-amyloidogenic processing of APP. We hypothesized that certain rare ADAM10 variants could increase the risk for AD by conferring the age-related downregulation of α-secretase. The ADAM10 gene was sequ
Externí odkaz:
https://doaj.org/article/23c4a0b3ebc64e67b10f33505c3b7bb2
Autor:
Pablo Agüero, María José Sainz, María-Salud García-Ayllón, Javier Sáez-Valero, Raquel Téllez, Rosa Guerrero-López, Julián Pérez-Pérez, Adriano Jiménez-Escrig, Estrella Gómez-Tortosa
Publikováno v:
Alzheimer’s Research & Therapy, Vol 12, Iss 1, Pp 1-9 (2020)
Abstract Background The disintegrin metalloproteinase 10 (ADAM10) is the main α-secretase acting in the non-amyloidogenic processing of APP. Some ADAM10 gene variants have been associated with higher susceptibility to develop late-onset AD, though c
Externí odkaz:
https://doaj.org/article/1945eb16f7ce4efa8b1627d5407c2b05
Publikováno v:
Alzheimer's & Dementia. 18
Autor:
Estrella, Gómez-Tortosa, Yalda, Baradaran-Heravi, Lubina, Dillen, Nila Roy, Choudhury, Pablo, Agüero Rabes, Julián, Pérez-Pérez, Cemile, Kocoglu, M José, Sainz, Alicia, Ruiz González, Raquel, Téllez, Lucía, Cremades-Jimeno, Blanca, Cárdaba, Christine, Van Broeckhoven, Gracjan, Michlewski, Julie, van der Zee
Publikováno v:
Alzheimer'sdementia : the journal of the Alzheimer's AssociationREFERENCES.
Patients with familial early-onset dementia (EOD) pose a unique opportunity for gene identification studies.We present the phenotype and whole-exome sequencing (WES) study of an autosomal dominant EOD family. Candidate genes were examined in a set of
Autor:
Suriel, Errasti Díaz, Mercedes, Peñalva, Lucía, Recio-Poveda, Susana, Vilches, Juan, Casado-Vela, Julián, Pérez Pérez, Luisa María, Botella, Virginia, Albiñana, Angel M, Cuesta
Publikováno v:
Journal of clinical medicine. 11(11)
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been d
Autor:
Suriel Errasti Díaz, Mercedes Peñalva, Lucía Recio-Poveda, Susana Vilches, Juan Casado-Vela, Julián Pérez Pérez, Luisa María Botella, Virginia Albiñana, Angel M. Cuesta
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Clinical Medicine; Volume 11; Issue 11; Pages: 3053
E-Prints Complutense. Archivo Institucional de la UCM
instname
Journal of Clinical Medicine; Volume 11; Issue 11; Pages: 3053
E-Prints Complutense. Archivo Institucional de la UCM
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be87225030ed4e1f37b78766b6618ee
http://hdl.handle.net/10261/271607
http://hdl.handle.net/10261/271607
Autor:
Maitane Olivares, Julián Pérez-Pérez, Laura Blanco-Zubiaguirre, Jose Antonio Carrero, Josefina Pérez-Arantegui, Kepa Castro, Carlos García-Benito, José Ángel García-Serrano
Publikováno v:
Analytical and Bioanalytical Chemistry. 411:6711-6722
The detection of organic residues that remain absorbed into the pores of ceramic artifacts constitutes a source of information regarding their management. Taking into account the poor conservation state of the potteries and the low amount of the orga
Autor:
Jesús, García-Fernández, Susana, Vilches-Arroyo, Leticia, Olavarrieta, Julián, Pérez-Pérez, Santiago, Rodríguez de Córdoba
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2227
The regulators of complement activation (RCA) gene cluster in 1q31-1q32 includes most of the genes encoding complement regulatory proteins. Genetic variability in the RCA gene cluster frequently involve copy number variations (CNVs), a type of chromo
Autor:
Santiago Rodríguez de Córdoba, Julián Pérez-Pérez, Jesús García-Fernández, Leticia Olavarrieta, Susana Vilches-Arroyo
Publikováno v:
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
The Complement System ISBN: 9781071610152
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
The Complement System ISBN: 9781071610152
20 p.-6 fig.-3 tab.
The regulators of complement activation (RCA) gene cluster in 1q31-1q32 includes most of the genes encoding complement regulatory proteins. Genetic variability in the RCA gene cluster frequently involve copy number variations
The regulators of complement activation (RCA) gene cluster in 1q31-1q32 includes most of the genes encoding complement regulatory proteins. Genetic variability in the RCA gene cluster frequently involve copy number variations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d45f598d0e7c3daa32a6290b0946163
http://hdl.handle.net/10261/239514
http://hdl.handle.net/10261/239514
Autor:
Estrella Gómez-Tortosa, Pablo Agüero, Adriano Jimenez-Escrig, Javier Sáez-Valero, María José Sainz, María-Salud García-Ayllón, Rosa Guerrero-López, Julián Pérez-Pérez, Raquel Téllez
Publikováno v:
Alzheimer's Research & Therapy
Alzheimer’s Research & Therapy, Vol 12, Iss 1, Pp 1-9 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
ALZHEIMERS RESEARCH & THERAPY
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Alzheimer’s Research & Therapy, Vol 12, Iss 1, Pp 1-9 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
ALZHEIMERS RESEARCH & THERAPY
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
[Background]: The disintegrin metalloproteinase 10 (ADAM10) is the main α-secretase acting in the non-amyloidogenic processing of APP. Some ADAM10 gene variants have been associated with higher susceptibility to develop late-onset AD, though clear c