Results 1 to 10 of about 181,932 (222)

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

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

A Proof-of-Principle Study of Non-invasive Identification of Peanut Genotypes and Nematode Resistance Using Raman Spectroscopy

Frontiers in Plant Science, 2022
Identification of peanut cultivars for distinct phenotypic or genotypic traits whether using visual characterization or laboratory analysis requires substantial expertise, time, and resources.
William Z. Payne, Tianyi Dou, John M. Cason, Charles E. Simpson, Bill McCutchen, Mark D. Burow, Mark D. Burow, Dmitry Kurouski, Dmitry Kurouski   +8 more
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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

Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: a case –control study

BMC Cancer, 2020
Background In recent years, the identification of genetic and phenotypic biomarkers of cancer for prevention, early diagnosis and patient stratification has been a main objective of research in the field.
J. C. Triviño, A. Ceba, E. Rubio-Solsona, D. Serra, I. Sanchez-Guiu, G. Ribas, R. Rosa, M. Cabo, L. Bernad, G. Pita, A. Gonzalez-Neira, G. Legarda, J. L. Diaz, A. García-Vigara, A. Martínez-Aspas, M. Escrig, B. Bermejo, P. Eroles, J. Ibáñez, D. Salas, A. Julve, A. Cano, A. Lluch, R. Miñambres, J. Benitez   +24 more
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Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

Genome Biology, 2019
Background Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse human diseases.
Shunichi Kosugi, Yukihide Momozawa, Xiaoxi Liu, Chikashi Terao, Michiaki Kubo, Yoichiro Kamatani   +5 more
doaj   +1 more source

Genome-Wide Detection of SNP Markers Associated with Four Physiological Traits in Groundnut (Arachis hypogaea L.) Mini Core Collection

Agronomy, 2020
In order to integrate genomics in breeding and development of drought-tolerant groundnut genotypes, identification of genomic regions/genetic markers for drought surrogate traits is essential.
Abdulwahab S. Shaibu, Clay Sneller, Babu N. Motagi, Jackline Chepkoech, Mercy Chepngetich, Zainab L. Miko, Adamu M. Isa, Hakeem A. Ajeigbe, Sanusi G. Mohammed   +8 more
doaj   +1 more source