Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Susana Pedrinaci"'
Autor:
Marta Cuadros, Carlos Cano, Sonia Garcia-Rodriguez, José Luis Martín, Antonio Poyatos-Andujar, Francisco Ruiz-Cabello, Susana Pedrinaci, Gema Durán, Manuel Benavides, María Dolores Bautista-Ojeda, Teresa Pereda, Maria Soledad Benitez-Cantos, Pedro Medina, Armando Blanco, Antonio Gonzalez, Paul Lizardi
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Background DNA methylation (DNAm) age metrics have been widely accepted as an epigenetic biomarker for biological aging and disease. The purpose of this study is to assess whether or not individuals carrying Lynch Syndrome-associated mutatio
Externí odkaz:
https://doaj.org/article/9ebdacda67254a459933182ab9227fbe
Autor:
Patricia Blanco-Arias, Inmaculada Medina Martínez, Luisa Arrabal Fernández, Eloy Rivas Infante, Maria Jose Salmerón Fernández, Catalina González Hervás, Pilar Azcón González de Aguilar, Lluis Armengol, Susana Pedrinaci, Francesca Perin
Publikováno v:
Neuromuscular Disorders.
Autor:
Bruna Calsina, Maria Currás-Freixes, Juan María Roldan-Romero, Alberto Cascón, Rafael Torres-Pérez, Iñaki Comino-Méndez, Esther Korpershoek, Sandra Rodriguez-Perales, Cristina Rodríguez-Antona, Guillermo Pita, Maurizio Falcioni, Antonio Percesepe, Rocío Letón, Lucia Inglada Pérez, Cristina Montero-Conde, Susana Pedrinaci, Giuseppe Opocher, Mercedes Robledo, Benedicto Crespo-Facorro, Santiago Ramón-Maiques, Emiliano Honrado, Raúl Torres-Ruiz, María R Alonso, Francesca Schiavi, Laura Remacha, Maria José Santos
Publikováno v:
Genetics in Medicine, 20(12), 1644-1651. Lippincott Williams & Wilkins
The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of
Autor:
Massimo Mannelli, Alberto Cascón, Aguirre A. de Cubas, Álvaro Gómez-Graña, Carmen Bernal, Iñaki Comino-Méndez, César L. Ramírez-Tortosa, Alessandra Bacca, Veronika Mancikova, Guillermoó Pita, Cristina Rodríguez-Antona, Elena Rapizzi, Susana Pedrinaci, Mercedes Robledo, Giampaolo Bernini, Carolina Sánchez-Malo, Cristina Álvarez-Escolá, Tonino Ercolino, Luis J Leandro-García, María R Alonso, Lucía Inglada-Pérez, Rocío Letón
Publikováno v:
Human Molecular Genetics; Vol 22
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nin
Autor:
Garcilaso Riesco-Eizaguirre, Óscar Sanz Guadarrama, Maria de la Soledad Serrano-Corredor, Xavier Matias-Guiu, Victoria Alcázar, María Calatayud-Gutiérrez, Lara Sánchez-Barroso, Alberto Díez-Hernández, Alberto Cascón, Esther Korpershoek, Mónica Marazuela, Sharona Azriel-Mira, Amaya Sainz de los Terreros, Cristina Álvarez-Escolá, Rocío Letón, Julia Sastre-Marcos, Constantino Sábado-Álvarez, Raquel Sáez-Villaverde, Miguel Aguirre Sánchez-Covisa, Cristina Lamas-Oliveira, Cristina Rodríguez-Antona, Mercedes Robledo, Bartolomé Scolá-Yurrita, Javier Aller, Lucía Inglada-Pérez, José Ángel Díaz, Ana Patiño-García, Cristina Montero-Conde, María Rosa Villar-Vicente, Veronika Mancikova, María Apellániz-Ruiz, Víctor M Andía-Melero, Amparo Meoro-Avilés, Iñaki Comino-Méndez, Ángel Segura-Huerta, Maria Currás-Freixes, Susana Pedrinaci
Publikováno v:
Journal of Medical Genetics, 52(10), 647-656. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Background Nowadays, 65-80% of pheochromocytoma and paraganglioma (PPGL) cases are explained by germline or somatic mutations in one of 22 genes. Several genetic testing algorithms have been proposed, but they usually exclude sporadic-PPGLs (S-PPGLs)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29f5b4252777b2c0773ec6d86b33b7cf
https://pure.eur.nl/en/publications/9cfe6e81-5735-422e-9582-2344a3217adb
https://pure.eur.nl/en/publications/9cfe6e81-5735-422e-9582-2344a3217adb
Autor:
Federico Garrido, Susana Pedrinaci, Francisco Ruiz-Cabello, Daniel E. Geraghty, Rosa Mendez, Rosario Marín, Pilar Jiménez
Publikováno v:
Immunogenetics. 54:767-775
Downregulation of MHC class Ia molecule expression is a widespread mechanism used by tumor cells to escape antitumor T-cell-mediated immune responses. However, it is not known why NK cells cannot lyse these MHC class-Ia-deficient tumor targets. Tumor
Publikováno v:
Cancer Immunology, Immunotherapy. 50:191-198
The activation of natural killer cells and induction of cytotoxicity are complex processes whose molecular mechanisms have not been clearly elucidated. Stimulation of the NKL human NK cell line with interleukin-2 (IL-2) or protein-bound polysaccharid
Autor:
Juan Antonio Bravo Soto, María Soledad Martínez Llamas, Carmen Morales, Julia Cantón, Susana Pedrinaci
Publikováno v:
Medicina Clínica. 123:97-99
Fundamento y objetivo La cistinosis es una enfermedad autosomica recesiva caracterizada por una acumulacion de cistina en el interior de los lisosomas. Existen 3 formas de la enfermedad, la infantil, la juvenil y la ocular no nefropatica, clasificada
Autor:
Federico Garrido, Pilar Jiménez, Graham Pawelec, Natalia Aptsiauri, Francisco Ruiz-Cabello, Teresa Rodríguez, Rosa Mendez, Eva Monge, Ana Del Campo, Susana Pedrinaci, Isabel Maleno
Publikováno v:
Cancer immunology, immunotherapy : CII. 57(5)
Altered HLA class I cell surface expression is one of the major mechanisms by which tumor cells escape from T lymphocytes. Immunohistochemistry-defined phenotypes of lost HLA class I expression have been described in human solid tumors, nut less info
Autor:
Jose María, Romero, Pilar, Jiménez, Teresa, Cabrera, José Manuel, Cózar, Susana, Pedrinaci, Miguel, Tallada, Federico, Garrido, Francisco, Ruiz-Cabello
Publikováno v:
International journal of cancer. 113(4)
Downregulation of MHC class I expression is a widespread phenomenon used by tumor cells to escape antitumor T-cell-mediated immune responses. These alterations may play a role in the clinical course of the disease. The aim of our study was to investi