Publicaciones
Encuentra aquí el listado de nuestras últimas publicaciones disponibles e indexadas en revistas científicas de impacto.
Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease. Genes & Immunity, doi: 10.1038/s41435-024-00260-z.
Meniere Disease (MD) is a chronic inner ear disorder characterized by vertigo attacks, sensorineural hearing loss, tinnitus, and aural fullness. Extensive evidence supporting the inflammatory etiology of MD has been found, therefore, by using transcriptome analysis,...
Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease. Biomolecules, doi: 10.3390/biom14020164.
Hirschsprung's disease (HSCR) is a rare developmental disorder in which enteric ganglia are missing along a portion of the intestine. HSCR has a complex inheritance, with RET as the major disease-causing gene. However, the pathogenesis of HSCR is still not completely...
Exploring miRNA-target gene pair detection in disease with coRmiT. Briefings in bioinformatics, 2024, 25(3). doi:10.1093/bib/bbae060
A wide range of approaches can be used to detect micro RNA (miRNA)-target gene pairs (mTPs) from expression data, differing in the ways the gene and miRNA expression profiles are calculated, combined and correlated. However, there is no clear consensus on which is the...
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. J Med Genet. 2023 Apr;60(4):406-415. doi: 10.1136/jmg-2022-108690.
Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transport and protein recycling...
Deepening the knowledge of rare diseases dependent on angiogenesis through semantic similarity clustering and network analysis. Brief Bioinform. 2022, 23(4):bbac220. doi: 10.1093/bib/bbac220.
Angiogenesis is regulated by multiple genes whose variants can lead to different disorders. Among them, rare diseases are a heterogeneous group of pathologies, most of them genetic, whose information may be of interest to determine the still unknown genetic and...
Integrating differential expression, co-expression and gene network analysis for the identification of common genes associated with tumor angiogenesis deregulation. J Biomed Inform., 2023, 144:104421. doi: 10.1016/j.jbi.2023.104421.
Angiogenesis is essential for tumor growth and cancer metastasis. Identifying the molecular pathways involved in this process is the first step in the rational design of new therapeutic strategies to improve cancer treatment. In recent years, RNA-seq data analysis has...
Regulatory variants: from detection to predicting impact. Briefings in bioinformatics, 2019, 20(5):1639-1654. doi: 10.1093/bib/bby039.
Variants within non-coding genomic regions can greatly affect disease. In recent years, increasing focus has been given to these variants, and how they can alter regulatory elements, such as enhancers, transcription factor binding sites and DNA methylation regions....