Guillermo Barturen
A5039320926- Systemic Lupus Erythematosus Research
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Diabetes and associated disorders
- Systemic Sclerosis and Related Diseases
- Atherosclerosis and Cardiovascular Diseases
- Genetic Associations and Epidemiology
- T-cell and B-cell Immunology
- Cancer-related molecular mechanisms research
- Genetic Syndromes and Imprinting
- Cancer-related gene regulation
- Salivary Gland Disorders and Functions
- Monoclonal and Polyclonal Antibodies Research
- Cytokine Signaling Pathways and Interactions
- Genomics and Phylogenetic Studies
- Protein Tyrosine Phosphatases
- RNA and protein synthesis mechanisms
- Machine Learning in Bioinformatics
- Chromosomal and Genetic Variations
- Liver Diseases and Immunity
- Immune responses and vaccinations
- Gene expression and cancer classification
- Genomics and Chromatin Dynamics
- Galectins and Cancer Biology
- Immune Cell Function and Interaction
Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
2016-2025
Universidad de Granada
2010-2025
Centro de Investigación Biomédica en Red
2012-2024
Genomics (United Kingdom)
2018
Instituto de Biotecnología de León
2013
Small RNA research is a rapidly growing field. Apart from microRNAs, which are important regulators of gene expression, other types functional small molecules have been reported in animals and plants. MicroRNAs host-microbe interactions parasite microRNAs might modulate the innate immunity host. Furthermore, RNAs can be detected bodily fluids making them attractive non-invasive biomarker candidates. Given general broad interest RNAs, particular large number bioinformatics aided analysis...
Clinical heterogeneity, a hallmark of systemic autoimmune diseases, impedes early diagnosis and effective treatment, issues that may be addressed if patients could classified into groups defined by molecular pattern. This study was undertaken to identify clusters for reclassifying diseases independently clinical diagnosis.Unsupervised clustering integrated whole blood transcriptome methylome cross-sectional data on 955 with 7 267 healthy controls undertaken. In addition, an inception cohort...
There is currently no approved treatment for primary Sjögren's syndrome, a disease that primarily affects adult women. The difficulty in developing effective therapies -in part- because of the heterogeneity clinical manifestation and pathophysiology disease. Finding common molecular signatures among patient subgroups could improve our understanding etiology, facilitate development targeted therapeutics. Here, we report, cross-sectional cohort, classification scheme syndrome patients based on...
Abstract SARS-CoV-2 infection can cause an inflammatory syndrome (COVID-19) leading, in many cases, to bilateral pneumonia, severe dyspnea, and ~5% of these, death. DNA methylation is known play important role the regulation immune processes behind COVID-19 progression, however it has not been studied depth. In this study, we aim evaluate implication progression by means a genome-wide analysis combined with genotyping. The results reveal existence epigenomic functional pathways associated...
The availability of high-throughput sequencing (HTS) technologies plays now a pivotal role in the expression profiling known small RNAs and discovery novel classes non-coding RNA [1]. Over last decade, both plants animals notable number have been described [2, 3]. It became apparent that biogenesis microRNAs other classes, their contribution to gene regulation mechanisms cellular control are more complex than previously envisioned. Therefore, apart from microRNA detection, analysis an...
Multisystem inflammatory syndrome in children (MIS-C) presents with fever, inflammation and pathology of multiple organs individuals under 21 years age the weeks following severe acute respiratory coronavirus 2 (SARS-CoV-2) infection. Although an autoimmune pathogenesis has been proposed, genes, pathways cell types causal to this new disease remain unknown. Here we perform RNA sequencing blood from patients MIS-C controls find disease-associated genes clustered a co-expression module annotated CD56
We aimed at investigating the whole-blood transcriptome, expression quantitative trait loci (eQTLs), and levels of selected serological markers in patients with SLE versus healthy controls (HC) to gain insight into pathogenesis identify drug targets.We analyzed differentially expressed genes (DEGs) dysregulated gene modules a cohort 350 497 HC from European PRECISESADS project (NTC02890121), split discovery (60%) replication (40%) set. Replicated DEGs qualified for eQTL, pathway enrichment,...
To unveil biological milieus underlying low disease activity (LDA) and remission versus active systemic lupus erythematosus (SLE).
IntroductionCurrent therapeutic management of lupus nephritis (LN) fails to induce long-term remission in over 50% patients, highlighting the urgent need for additional options.MethodsWe analysed differentially expressed genes peripheral blood from active LN (n=41) and non-renal (n=62) patients versus healthy controls (n=497) European PRECISESADS project (NTC02890121), dysregulated gene modules a discovery (n=26) replication (n=15) set cases.ResultsReplicated qualified correlation analyses...
Whole genome methylation profiling at a single cytosine resolution is now feasible due to the advent of high-throughput sequencing techniques together with bisulfite treatment DNA. To obtain value each individual cytosine, bisulfite-treated sequence reads are first aligned reference genome, and then levels done from alignments. A huge effort has been made quickly correctly align many different algorithms programs do this have created. However, second step just as crucial non-trivial, but...
Systemic Lupus Erythematosus is a complex autoimmune disease that leads to significant worsening of quality life and mortality. Flares appear unpredictably during the course therapies used are often only partially effective. These challenges mainly due molecular heterogeneity disease, in this context, personalized medicine-based approaches offer major promise. With work we intended advance direction by developing MyPROSLE, an omic-based analytical workflow for measuring portrait individual...
Next-generation sequencing (NGS) together with bisulphite conversion allows the generation of whole genome methylation maps at single-cytosine resolution.This studying absence in a particular region over range tissues, differential tissue or changes occurring along pathological conditions.However, no database exists fully addressing such requirements.We propose here NGSmethDB (http://bioinfo2.ugr.es/NGSmethDB/gbrowse/) for storage and retrieval data derived from NGS.Two cytosine contexts...
Interpreting biological system changes requires interpreting vast amounts of multi-omics data. While user-friendly tools exist for single-omics analysis, integrating multiple omics still bioinformatics expertise, limiting accessibility the broader scientific community. BiomiX tackles bottleneck in high-throughput data enabling efficient and integrated analysis multiomics obtained from two cohorts. incorporates diverse data, using DESeq2/Limma packages transcriptomics, quantifying...
The 22q11.2 deletion syndrome (22qDS) is a human disorder where the majority of clinical manifestations originate during embryonic development. 22qDS caused by microdeletion in one chromosome 22, including DGCR8, an essential gene for microRNA (miRNA) production. However, impact DGCR8 hemizygosity on development still unclear. In this study, we generated two pluripotent cell models containing single functional allele to elucidate its role early DGCR8+/- stem cells (hESCs) showed increased...
Abstract Background/Aims ANA-associated RMDs (ANA-RMDs) include SLE, Sjogren’s, scleroderma, myositis, and mixed/undifferentiated CTD. Despite overlapping clinical immunophenotypic features, there is significant disparity in access to targeted therapies across ANA-RMDs. A robust data-driven reclassification using biomarker data with impact could define more homogeneous cohorts for trials. Methods We trained a variational autoencoder the European PRECISESADS cohort of 876 ANA-RMD patients R,...
Unmethylated stretches of CpG dinucleotides (CpG islands) are an outstanding property mammal genomes. Conventionally, these regions detected by sliding window approaches using %G + C, observed/expected ratio and length thresholds as main parameters. Recently, clustering methods directly detect clusters a statistical the genome sequence. We compare sliding-window to (i.e. CpGcluster) predictions applying new ways putative functionality islands. Analyzing co-localization with several genomic...
Mixed Connective Tissue Disease (MCTD) is a rare complex systemic autoimmune disease (SAD) characterized by the presence of increased levels anti-U1 ribonucleoprotein autoantibodies and signs symptoms that resemble other diseases such as sclerosis (SSc), rheumatoid arthritis (RA), lupus erythematosus (SLE). Due to its low prevalence, this has been very poorly studied at molecular level. We performed for first time an epigenome-wide association study interrogating DNA methylation data...
The analysis of annotated transcripts from genome-wide expression studies may help to understand the pathogenesis complex diseases, such as systemic sclerosis (SSc). We performed a whole blood (WB) transcriptome on RNA collected in context European PRECISESADS project, aiming at characterising pathways that differentiate SSc controls and are reproducible geographically diverse populations.Samples 162 patients 252 were stabilisers. Cases divided into discovery (n=79+163; Southern Europe)...
To link changes in the B-cell transcriptome from systemic lupus erythematosus (SLE) patients with those their macroenvironment, including cellular and fluidic components.
Abstract Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. Here we describe results of methylation-quantitative trait loci (mQTL) analyses 32,851 participants, identifying variants associated with DNAm at 420,509 sites in blood. We present a database >270,000 independent mQTL which 8.5% comprise long-range ( trans ) associations. Identified associations explain 15-17% the additive variance...
Autoimmune diseases are heterogeneous pathologies with difficult diagnosis and few therapeutic options. In the last decade, several omics studies have provided significant insights into molecular mechanisms of these diseases. Nevertheless, data from different cohorts stored independently in public repositories a unified resource is imperative to assist researchers this field.Here, we present Diseases Explorer ( https://adex.genyo.es ), database that integrates 82 curated transcriptomics...
Abstract Primary Sjögren’s syndrome (SS) is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary lacrimal glands. The etiology SS complex with environmental triggers genetic factors involved. By conducting an integrated multi-omics study, we confirmed vast coordinated hypomethylation overexpression effects in IFN-related genes, what known as the IFN signature. Stratified conditional analyses suggest strong interaction between SS-associated...
High amount of polyclonal free light chains (FLC) are reported in systemic autoimmune diseases (SAD) and we took advantage the PRECISESADS study to better characterize them. Serum FLC levels were explored 1979 patients with SAD (RA, SLE, SjS, Scl, APS, UCTD, MCTD) 614 healthy controls. Information regarding clinical parameters, disease activity, medications, autoantibodies (Ab) interferon α and/or γ scores recorded. Among patients, 28.4% had raised total (from 12% RA 30% SLE APS) a normal...