Carlos Flores
A5056138948- Respiratory Support and Mechanisms
- Asthma and respiratory diseases
- Sepsis Diagnosis and Treatment
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Forensic and Genetic Research
- Immune Response and Inflammation
- Neonatal Respiratory Health Research
- SARS-CoV-2 and COVID-19 Research
- Genomics and Phylogenetic Studies
- Genetic Associations and Epidemiology
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Genetic diversity and population structure
- COVID-19 Clinical Research Studies
- Respiratory viral infections research
- IL-33, ST2, and ILC Pathways
- SARS-CoV-2 detection and testing
- Pneumonia and Respiratory Infections
- Immunodeficiency and Autoimmune Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genomics and Rare Diseases
- Helicobacter pylori-related gastroenterology studies
- Forensic Anthropology and Bioarchaeology Studies
- Molecular Biology Techniques and Applications
- Diabetes and associated disorders
- Liver Disease Diagnosis and Treatment
Instituto Tecnológico y de Energías Renovables
2017-2025
Universidad de La Laguna
2016-2025
Instituto de Salud Carlos III
2016-2025
Hospital Universitario Nuestra Señora de Candelaria
2016-2025
Administração Regional de Saúde de Lisboa e Vale do Tejo
2025
Centro de Investigación Biomédica en Red de Enfermedades Respiratorias
2013-2025
Universidad Fernando Pessoa Canarias
2020-2025
Centre for Biomedical Network Research on Rare Diseases
2020-2025
Universidad Técnica del Norte
2025
Jorge Basadre Grohmann National University
2024
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort 1,202 patients 0.5 99 52.9 with unexplained pneumonia. None the 331 asymptomatically or mildly infected 1.3 102 38.7 tested carry such (p = 3.5 × 10-5). The phenotypes five hemizygous relatives...
BackgroundIdiopathic pulmonary fibrosis (IPF) is a chronic progressive lung disease with high mortality, uncertain cause, and few treatment options. Studies have identified significant genetic risk associated the development of IPF; however, mechanisms by which factors promote IPF remain unclear. We aimed to identify variants susceptibility provide mechanistic insight using gene protein expression analyses.MethodsWe used two-stage approach: genome-wide association study in patients European...
Rationale: Idiopathic pulmonary fibrosis (IPF) is a complex lung disease characterized by scarring of the that believed to result from an atypical response injury epithelium. Genome-wide association studies have reported signals implicating multiple pathways including host defense, telomere maintenance, signaling, and cell-cell adhesion.Objectives: To improve our understanding factors increase IPF susceptibility identifying previously unreported genetic associations.Methods: We conducted...
The precisionFDA Truth Challenge V2 aimed to assess the state of art variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines and submitted 64 call sets for one or more sequencing technologies (Illumina, PacBio HiFi, Oxford Nanopore Technologies). Submissions were evaluated following best practices benchmarking small variants updated Genome a Bottle benchmark genome stratifications. submissions included numerous...
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1 , OAS2 or RNASEL five unrelated with MIS-C. The cytosolic double-stranded RNA (dsRNA)–sensing generate 2′-5′-linked oligoadenylates (2-5A) activate the single-stranded RNA–degrading ribonuclease L (RNase L). Monocytic cell lines primary myeloid cells OAS1, OAS2, RNase produce excessive amounts cytokines upon dsRNA acute...
Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk children, which is much lower than adults, remains unexplained. In an international cohort 112 children (<16 yr old) hospitalized for pneumonia, we report 12 (10.7%) aged 1.5–13 with (7 children), severe (3), and moderate (2) 4 the 15 known clinically recessive biochemically complete IFN immunity: X-linked TLR7 deficiency children) autosomal...
Abstract Background We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent interferon (IFN) immunity or autoantibodies against IFN, account for 15–20% cases life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants remain be identified ~ 80% cases. Methods report here a genome-wide rare variant burden association analysis 3269 patients with COVID-19, 1373 SARS-CoV-2-infected individuals without pneumonia. Among 928...
The phylogeographic distribution of human mitochondrial DNA variations allows a genetic approach to the study modern Homo sapiens dispersals throughout world from female perspective. As new contribution this we have phylogenetically analysed complete DNA(mtDNA) sequences 42 lineages, representing major clades with known geographic assignation.We show relative relationships among lineages and present more accurate temporal calibrations than been previously possible give perspectives as how...
Human genetic diversity in southern Europe is higher than other regions of the continent. This difference has been attributed to postglacial expansions, demic diffusion agriculture from Near East, and gene flow Africa. Using SNP data 2,099 individuals 43 populations, we show that estimates recent shared ancestry between Africa are substantially increased when North Africans, rather Sub-Saharan considered. The gradient African accounts for previous observations low levels sharing with...
NanoCLUST is an analysis pipeline for the classification of amplicon-based full-length 16S rRNA nanopore reads. It characterized by unsupervised read clustering step, based on Uniform Manifold Approximation and Projection (UMAP), followed construction a polished subsequent Blast classification. Here, we demonstrate that performs better than other state-of-the-art software in characterization two commercial mock communities, enabling accurate bacterial identification abundance profile...
The gold-standard COVID-19 diagnosis relies on detecting SARS-CoV-2 using RNA purification and one-step retrotranscription quantitative PCR (RT-qPCR). Based the urgent need for high-throughput screening, we tested performance of three alternative, simple affordable protocols to rapidly detect SARS-CoV-2, bypassing long tedious extraction step reducing time viral detection.We evaluated methods based direct nasopharyngeal swab transmission medium (VTM) heating before RT-qPCR: a) without...
The Canary Islands' indigenous people have been the subject of substantial archaeological, anthropological, linguistic and genetic research pointing to a most probable North African Berber source. However, neither agreement about exact point origin nor model for colonization islands has established. To shed light on these questions, we analyzed 48 ancient mitogenomes from 25 archaeological sites seven main islands. Most lineages observed in samples Mediterranean distribution, belong...