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K-mer counting and curated libraries drive efficient annotation of repeats in plant genomes
(Wiley, 2021-09)
The annotation of repetitive sequences within plant genomes can help in the interpretation of observed phenotypes. Moreover, repeat masking is required for tasks such as whole-genome alignment, promoter analysis, or pangenome ...
Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
(2016-02-01)
Background: The molecular basis underlying the development of thyroid dysgenesis remains largely unknown. The objective of this study was to analyze the PAX8 gene in 32 children with congenital hypothyroidism due to thyroid ...
Multi-institutional experience of genetic diagnosis in Ecuador: national registry of chromosome alterations and polymorphisms
(2020)
Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ...
Desafíos éticos en investigación genómica y biotecnología. Veinte años de Acta Bioethica
(Universidad de Chile, Centro Interdisciplinario Estudios Bioética, 2020)
This article reviews ethical reflections about genetic research and genetic manipulation published in 20 years of Acta Bioethica. The following relevant topics are identified in bioethics dialogue: risks evaluation, inequity, ...
Genomic organization of the Neurospora crassa gsn gene: possible involvement of the STRE and HSE elements in the modulation of transcription during heat shock
(Springer, 2004-12-01)
Glycogen synthase, an enzyme involved in glycogen biosynthesis, is regulated by phosphorylation and by the allosteric ligand glucose-6-phosphate (G6P). In addition, enzyme levels can be regulated by changes in gene expression. ...
Genomic organization of the Neurospora crassa gsn gene: possible involvement of the STRE and HSE elements in the modulation of transcription during heat shock
(Springer, 2004-12-01)
Glycogen synthase, an enzyme involved in glycogen biosynthesis, is regulated by phosphorylation and by the allosteric ligand glucose-6-phosphate (G6P). In addition, enzyme levels can be regulated by changes in gene expression. ...
SCN1A testing for epilepsy: application in clinical practice
(Wiley, 2013-05)
This report is a practical reference guide for genetic testing of SCN1A, the gene encoding the α1 subunit of neuronal voltage-gated sodium channels (protein name: Nav1.1). Mutations in this gene are frequently found in ...
Seasonal genetic partitioning in the neotropical malaria vector, Anopheles darlingi
(Biomed Central Ltd., 2014)
Seasonal genetic partitioning in the neotropical malaria vector, Anopheles darlingi
(Biomed Central Ltd., 2014)
Screening of transcription factors involved in fetal hemoglobin regulation using phylogenetic footprinting
(2015-10-27)
Fetal hemoglobin (Hb F) is an important genetic modulator of the beta-hemoglobinopathies. The regulation of Hb F levels is influenced by transcription factors. We used phylogenetic footprinting to screen transcription ...