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Clinical interpretation and management of genetic variants
Genetic variants are major determinants of susceptibility to disease, response to therapy, and clinical outcomes. Advances
in the short-read sequencing technologies, despite some shortcomings, have enabled identification ...
Genetic Variants in the Activation of the Brown-Like Adipocyte Pathway and the Risk for Severe Obesity
(S. Karger AG, Basel, 2020)
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients
(Wiley, 2020)
Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. ...
Small genetic variation affecting mRNA isoforms associated with marbling and meat color in beef cattle
(2022-01-01)
The aim of this study was to identify mRNA isoforms and small genetic variants that may be affecting marbling and beef color in Nellore cattle. Longissimus thoracis muscle samples from 20 bulls with different phenotypes ...
Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes
(2023)
Dyslipidemias are risk factors in diseases of significant importance to public health, such as atherosclerosis, a condition that contributes to the development of cardiovascular diseases, respectively. Unhealthy lifestyles, ...
Streamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data
(2019)
Background: Genetically engineered mice (GEM) are essential tools for understanding gene function and disease modeling. Historically, gene targeting was first done in embryonic stem cells (ESCs) derived from the 129 family ...
Comment on "Genetic variants and source of introduction of SARS-CoV-2 in South America"
(Wiley, 2020)
I read with great interest a recent study by Poterico and Mestanza who described mutations in 30 SARS‐CoV‐2 genomes from South American countries (Argentina, Brazil, Chile, Colombia, Ecuador, and Peru). Next‐generation ...
GJB2 and GJB6 genetic variant curation in an Argentinean non-syndromic hearing-impaired cohort
(MDPI AG, 2020-10-21)
Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to ...
No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies
(2020-12)
The effort to understand the genetic basis of human sociality has been encouraged by the diversity and heritability of social traits like cooperation. This task has remained elusive largely because most studies of sociality ...