Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Joan Anton Puig-Butille"'
Autor:
Aleix Prat, Valentina Guarneri, Tomás Pascual, Fara Brasó-Maristany, Esther Sanfeliu, Laia Paré, Francesco Schettini, Débora Martínez, Pedro Jares, Gaia Griguolo, Maria Vittoria Dieci, Javier Cortés, Antonio Llombart-Cussac, Benedetta Conte, Mercedes Marín-Aguilera, Nuria Chic, Joan Anton Puig-Butillé, Antonio Martínez, Patricia Galván, Yi-Hsuan Tsai, Blanca González-Farré, Aurea Mira, Ana Vivancos, Patricia Villagrasa, Joel S. Parker, Pierfranco Conte, Charles M. Perou
Publikováno v:
EBioMedicine, Vol 75, Iss , Pp 103801- (2022)
Summary: Background: Both clinical and genomic data independently predict survival and treatment response in early-stage HER2-positive breast cancer. Here we present the development and validation of a new HER2DX risk score, and a new HER2DX patholog
Externí odkaz:
https://doaj.org/article/0fd537b853eb4d46994417b689144024
Autor:
Sergi Borrego‐Écija, Anna Antonell, Joan Anton Puig‐Butillé, Inmaculada Pericot, Carme Prat‐Bravo, Maria Teresa Abellan‐Vidal, Javier Mallada, Jaume Olives, Neus Falgàs, Rafael Oliva, Albert Lladó, Raquel Sánchez‐Valle
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1559-1565 (2019)
Abstract Mutations in the MAPT gene cause frontotemporal dementia with tau deposits. We report the novel p.P397S MAPT variant in eight subjects from five apparently nonrelated families suffering from frontotemporal dementia with autosomal dominant pa
Externí odkaz:
https://doaj.org/article/5712f381aa214e7785b27db14907dab9
Autor:
José Luis Villanueva-Cañas, Eva Gonzalez-Roca, Aitor Gastaminza Unanue, Esther Titos, Miguel Julián Martínez Yoldi, Andrea Vergara Gómez, Joan Anton Puig-Butillé
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0252509 (2021)
The current global pandemic due to the SARS-CoV-2 has pushed the limits of global health systems across all aspects of clinical care, including laboratory diagnostics. Supply chain disruptions and rapidly-shifting markets have resulted in flash-scarc
Externí odkaz:
https://doaj.org/article/3d0dccf588ec49d7a97a1765ea9870f5
Autor:
José Manuel González de Aledo-Castillo, Samira Serhir-Sgheiri, Neus Calbet-Llopart, Ainara Arcocha, Pedro Jares, Noemí Reguart, Joan Antón Puig-Butillé
Publikováno v:
Diagnostics, Vol 11, Iss 8, p 1319 (2021)
The cobas® EGFR Test provides a semiquantitative index (SQI) that reflects the proportion of mutated versus wild-type copies of the EGFR gene in plasma. The significance of SQI as an indirect measure of the variant allele frequency (VAF) or mutated
Externí odkaz:
https://doaj.org/article/ab9a31a3f42d4c24b6ae8058e5954bbd
Autor:
Andrea Elias-Mas, Miriam Potrony, Jaume Bague, David J. Cutler, Maria Isabel Alvarez-Mora, Teresa Torres, Tamara Barcos, Joan Anton Puig-Butille, Marta Rubio, Irene Madrigal, Susana Puig, Emily G. Allen, Laia Rodriguez-Revenga
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2023)
IntroductionFragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs). Clinical symptoms in FXTAS patients usua
Externí odkaz:
https://doaj.org/article/2c323e1e817240288503176d3c886aa5
Autor:
Mercè Brunet, Celia Badenas, Miquel Navasa, Esther Fernández-Galán, Wladimiro Jiménez, Constantino Fondevila, Joan Anton Puig-Butille
Publikováno v:
Liver Transplantation. 28:257-268
Monitoring of graft function is essential during the first months after liver transplantation (LT), but current liver function tests (LFTs) lack the specificity and sensitivity to ensure an efficient diagnosis of acute rejection (AR). Recently, donor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdf794f0e0b35ab2918d80603bc5a769
https://doi.org/10.1002/lt.26272
https://doi.org/10.1002/lt.26272
Autor:
Marc Dabad, Cristina Carrera, Asunción Vicente, Vanessa Martins da Silva, Josep Malvehy, Estefania Martinez-Barrios, Susana Puig, Daniel Brualla, Paula Aguilera, Gemma Tell-Marti, Anna Esteve-Codina, Joan Anton Puig-Butille
Publikováno v:
Journal of Investigative Dermatology. 139:900-908
Large and giant congenital melanocytic nevi (CMN) are rare melanocytic lesions mostly caused by postzygotic NRAS alteration. Molecular characterization is usually focused on NRAS and BRAF genes in a unique biopsy sample of the CMN. However, large/gia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e7921ae669f653fb1b5d06c793d6988
https://doi.org/10.1016/j.jid.2018.07.045
https://doi.org/10.1016/j.jid.2018.07.045
Autor:
Josep Malvehy, Carla Daniela Robles-Espinoza, Maria Teresa Landi, David J. Adams, V. Iyer, Susana Puig, Celia Badenas, Joan Anton Puig-Butille, M. Ribera‐Sola, Cristina Carrera, Paula Aguilera, Miriam Potrony
Publikováno v:
British Journal of Dermatology. 181:105-113
Background: Germline mutations in telomere-related genes such as POT1 and TERT predispose individuals to familial melanoma. Objectives: To evaluate the prevalence of germline mutations in POT1 and TERT in a large cohort of Spanish melanoma-prone fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a82e9de64a590e410e57036bc5da836a
https://doi.org/10.1111/bjd.17443
https://doi.org/10.1111/bjd.17443
Transcriptomic and Genetic Associations between Alzheimer's Disease, Parkinson's Disease, and Cancer
Autor:
Antonio Falcó, Alfonso Valencia, Joan Anton Puig-Butille, Jon Sánchez-Valle, Cesar Boullosa, Rafael Tabarés-Seisdedos, Jaume Forés-Martos, Joan Climent, David Rodrigo-Domínguez, Beatriz Suay-García, Susana Puig
Publikováno v:
Cancers, Vol 13, Iss 2990, p 2990 (2021)
Cancers
CEU Repositorio Institucional
Fundación Universitaria San Pablo CEU (FUSPCEU)
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Volume 13
Issue 12
Cancers
CEU Repositorio Institucional
Fundación Universitaria San Pablo CEU (FUSPCEU)
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Volume 13
Issue 12
Simple Summary Epidemiological studies have identified a link between neurodegenerative disorders and a reduced risk of overall cancer. Increases and decreases in the risk of site-specific cancers have also been reported. However, it is still unknown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67085865a01c316bc8e3fe34f539c7a5
https://pubmed.ncbi.nlm.nih.gov/34203763
https://pubmed.ncbi.nlm.nih.gov/34203763
Publikováno v:
Comprehensive Foodomics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed8cca14c4663856f9b99ab28d4871e6
https://doi.org/10.1016/b978-0-08-100596-5.22905-3
https://doi.org/10.1016/b978-0-08-100596-5.22905-3
