Results 1 to 10 of about 349,548 (267)

POLRMT as a Novel Susceptibility Gene for Cardiotoxicity in Epirubicin Treatment of Breast Cancer Patients

Pharmaceutics, 2021
Anthracyclines are among the most used chemotherapeutic agents in breast cancer (BC). However their use is hampered by anthracycline-induced cardiotoxicity (AIC).
Alejandro Velasco-Ruiz, Rocio Nuñez-Torres, Guillermo Pita, Hans Wildiers, Diether Lambrechts, Sigrid Hatse, Danielle Delombaerde, Thomas Van Brussel, M. Rosario Alonso, Nuria Alvarez, Belen Herraez, Christof Vulsteke, Pilar Zamora, Teresa Lopez-Fernandez, Anna Gonzalez-Neira   +14 more
doaj   +1 more source

A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact

Pharmaceutics, 2023
The implementation of pharmacogenetics (PGx) is a main milestones of precision medicine nowadays in order to achieve safer and more effective therapies. Nevertheless, the implementation of PGx diagnostics is extremely slow and unequal worldwide, in part ...
Rocio Nunez-Torres, Guillermo Pita, María Peña-Chilet, Daniel López-López, Jorge Zamora, Gema Roldán, Belén Herráez, Nuria Álvarez, María Rosario Alonso, Joaquín Dopazo, Anna Gonzalez-Neira   +10 more
doaj   +1 more source

Comparison of metagenomic and targeted methods for sequencing human pathogenic viruses from wastewater

mBio, 2023
Wastewater-based epidemiology is a powerful tool for monitoring the emergence and spread of viral pathogens at the population scale. Typical polymerase chain reaction (PCR)-based methods of quantitative and genomic monitoring of viruses in wastewater ...
Harry T. Child, George Airey, Daniel M. Maloney, Abby Parker, Jonathan Wild, Suzie McGinley, Nicholas Evens, Jonathan Porter, Kate Templeton, Steve Paterson, Ronny van Aerle, Matthew J. Wade, Aaron R. Jeffries, Irene Bassano   +13 more
doaj   +1 more source

A crowdsourcing database for the copy-number variation of the Spanish population

Human Genomics, 2023
Background Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood.
Daniel López-López, Gema Roldán, Jose L. Fernández-Rueda, Gerrit Bostelmann, Rosario Carmona, Virginia Aquino, Javier Perez-Florido, Francisco Ortuño, Guillermo Pita, Rocío Núñez-Torres, Anna González-Neira, CSVS Crowdsourcing Group, María Peña-Chilet, Joaquin Dopazo   +13 more
doaj   +1 more source

SARS-CoV-2 Delta and Omicron Variants Surge in Curitiba, Southern Brazil, and Its Impact on Overall COVID-19 Lethality

Viruses, 2022
Screening efforts and genomic surveillance are essential tools to evaluate the course of the COVID-19 pandemic and assist the public healthcare system in dealing with an increasing number of infections.
Douglas Adamoski, Valter Antonio de Baura, Ana Carolina Rodrigues, Carla Adriane Royer, Mateus Nóbrega Aoki, Marcel Kruchelski Tschá, Ana Claudia Bonatto, Roseli Wassem, Meri Bordignon Nogueira, Sonia Mara Raboni, Bernardo Montesanti Machado de Almeida, Edvaldo da Silva Trindade, Daniela Fiori Gradia, Emanuel Maltempi Souza, Jaqueline Carvalho de Oliveira   +14 more
doaj   +1 more source

Detection of bvdv 1q in china: genetic characterization and experimental infection for the investigation of it"s pathogenicity [PDF]

Kafkas Universitesi Veteriner Fakültesi Dergisi, 2020
Bovine viral diarrhea virus (BVDV) is a pathogen that affects ruminants worldwide and is one of the most economically important diseases of cattle.
Yanhua HE, Xusheng MA, Xin HUANG, Jinliang SHENG, Fagang ZHONG, Xinxia ZHAO, Yunfen ZHANG, Chuangfu CHEN   +7 more
doaj   +1 more source

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants

Scientific Reports, 2022
Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes.
B. Benito-Sánchez, A. Barroso, V. Fernández, F. Mercadillo, R. Núñez-Torres, G. Pita, L. Pombo, R. Morales-Chamorro, J. M. Cano-Cano, M. Urioste, A. González-Neira, A. Osorio   +11 more
doaj   +1 more source

Multicenter Outbreak of Infections by Saprochaete clavata, an Unrecognized Opportunistic Fungal Pathogen

mBio, 2014
Rapidly fatal cases of invasive fungal infections due to a fungus later identified as Saprochaete clavata were reported in France in May 2012. The objectives of this study were to determine the clonal relatedness of the isolates and to investigate ...
Sophie Vaux, Alexis Criscuolo, Marie Desnos-Ollivier, Laure Diancourt, Chloé Tarnaud, Matthias Vandenbogaert, Sylvain Brisse, Bruno Coignard, Françoise Dromer   +8 more
doaj   +1 more source

HPV genotyping of cervical histologic specimens of 61, 422 patients from the largest women hospital in China

Frontiers in Oncology, 2023
ObjectivesWe investigated HPV genotypes in a large cohort of patients with definitive cervical histologic diagnosis.MethodsHPV testing was performed by real-time PCR assay, including 18 high-risk HPV (hrHPV) and 3 low-risk HPV (lrHPV).
Fangfang Zhong, Zaibo Li, Yihua Sun, Yaoxing Xiao, Juan Li, Xianrong Zhou, Qing Cong, Long Sui, Xiang Tao, Chengquan Zhao   +9 more
doaj   +1 more source

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

Stem Cell Research, 2018
The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated ...
Dunja Lukovic, Ana Artero Castro, Marian León, Verónica del Buey Furió, Marta Cortón, Carmen Ayuso, Slaven Erceg   +6 more
doaj   +1 more source