Results 1 to 10 of about 348,102 (219)

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

open access: yesPharmaceutics, 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   +14 more
doaj   +1 more source

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

open access: yesPharmaceutics, 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   +10 more
doaj   +1 more source

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

open access: yesmBio, 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   +13 more
doaj   +1 more source

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

open access: yesHuman 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   +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

open access: yesScientific 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   +11 more
doaj   +1 more source

Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case–Parent Trio Study

open access: yesGlobal Medical Genetics, 2023
Oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are the most common types of congenital anomalies of the human face. Various genetic and environmental factors play a role in developing oral clefts.
Mahamad Irfanulla Khan   +4 more
doaj   +1 more source

Maternal Transmission of the PAX7 Single Nucleotide Polymorphisms among Indian Cleft Trios

open access: yesGlobal Medical Genetics, 2023
Cleft lip and/or cleft palate (CL/P) is one of the most common congenital anomalies of the human face with a complex etiology involving multiple genetic and environmental factors. Several studies have shown the association of the paired box 7 (PAX7) gene
Mahamad Irfanulla Khan   +3 more
doaj   +1 more source

Effect of genotypes for growth hormone gene in Awassi ewes on milk production and components [PDF]

open access: yesMesopotamia Journal of Agriculture, 2023
This study was conducted in the Department of Animal Production/College of Agriculture and Forestry/University of Mosul from 3/4/2022 to 3/2/2023, by using forty Awassi ewes aged between 3-5 years and with an average weight of (42 kg).
Haitham Hadi   +2 more
doaj   +1 more source

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

open access: yesmBio, 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   +8 more
doaj   +1 more source

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

open access: yesStem 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   +6 more
doaj   +1 more source

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