A5045204521- Single-cell and spatial transcriptomics
- Genomics and Chromatin Dynamics
- Immune Cell Function and Interaction
- Cancer Genomics and Diagnostics
- Diabetes and associated disorders
- Systemic Lupus Erythematosus Research
- Colorectal Cancer Treatments and Studies
- T-cell and B-cell Immunology
- Genetic factors in colorectal cancer
- Inflammatory Bowel Disease
- Trypanosoma species research and implications
- RNA Interference and Gene Delivery
- Genetics and Neurodevelopmental Disorders
- Acute Lymphoblastic Leukemia research
- Bioinformatics and Genomic Networks
- Gene Regulatory Network Analysis
- Rheumatoid Arthritis Research and Therapies
- Kawasaki Disease and Coronary Complications
- Viral Infections and Immunology Research
- Research on Leishmaniasis Studies
- Neonatal and fetal brain pathology
- Ethics in Clinical Research
- Galectins and Cancer Biology
- RNA regulation and disease
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Instituto de Investigación Sanitaria de Santiago
2021-2023
Universidade de Santiago de Compostela
2023
Complejo Hospitalario Universitario de Santiago
2003-2023
Servicio Gallego de Salud
2023
Imperial College London
2013-2019
MRC London Institute of Medical Sciences
2017-2019
Instituto de Parasitología y Biomedicina "López - Neyra"
2009-2015
Consejo Superior de Investigaciones Científicas
2009-2015
Nordic Lymphoma Group
2013
Hôpital de la Timone
1980-1981
African trypanosomes are protozoan parasites transmitted by a tsetse fly vector to mammalian host. The life cycle includes highly proliferative forms and quiescent forms, the latter being adapted host transmission. signaling pathways controlling developmental switch between two remain unknown. Trypanosoma brucei contains target of rapamycin (TOR) kinases, TbTOR1 TbTOR2, TOR complexes, TbTORC1 TbTORC2. Surprisingly, additional kinases encoded in T. genome. We report that TbTOR4 associates...
Abstract Objective The A allele of the PD1.3 single‐nucleotide polymorphism (SNP) on programmed cell death gene PDCD1 was markedly more frequent in patients with systemic lupus erythematosus (SLE) than unaffected controls a recent study involving large sets Swedish, European American, and Mexican families. This sought to determine role susceptibility SLE Spanish population. Methods Seven SNPs were studied 518 800 healthy control subjects who had been recruited 5 distant towns spanning...
Turning genes on and off is essential for development homeostasis, yet little known about the sequence causal role of chromatin state changes during repression active genes. This surprising, as defective gene silencing underlies developmental abnormalities disease. Here we delineate functional contribution transcriptional mechanisms at high temporal resolution. Inducible entry NuRD-interacting regulator Ikaros into mouse pre-B cell nuclei triggered immediate binding to target promoters....
Objectives. To investigate the association of a non-synonymous single-nucleotide polymorphism (SNP) in DNASEI with susceptibility to systemic lupus erythematosus (SLE) and production autoantibodies nuclear antigens.
Abstract Multi-omics approaches use a diversity of high-throughput technologies to profile the different molecular layers living cells. Ideally, integration this information should result in comprehensive systems models cellular physiology and regulation. However, most multi-omics projects still include limited number assays there have been very few multi-omic studies that evaluate dynamic processes such as growth, development adaptation. Hence, we lack formal analysis methods datasets can...
Objective. To test if the three most common mutations contributing to Crohn's disease on CARD15/NOD2 gene could contribute also genetic susceptibility systemic lupus erythematosus (SLE), which has been found be linked region of chromosome 16q13 where CARD15 is located.
African trypanosomes infect a broad range of mammals, but humans and some higher primates are protected by serum trypanosome lytic factors that contain apolipoprotein L1 (ApoL1). In the human-infective subspecies Trypanosoma brucei, brucei rhodesiense, gene product derived from variant surface glycoprotein family member, resistance-associated protein (SRA protein), protects against ApoL1-mediated lysis. Protection factor requires direct interaction between SRA ApoL1 within endocytic...
Molecular profiling of circulating cell-free DNA (cfDNA) has shown utility for the management colorectal cancer (CRC). TruSight Tumor 170 (TST170) is a next-generation sequencing (NGS) panel that covers cancer-related genes, including KRAS, which key driver gene in CRC. We evaluated capacity TST170 to detect variants cfDNA from retrospective cohort 20 metastatic CRC patients with known KRAS tumor tissue and previously analyzed by pyrosequencing BEAMing, respectively. The most (95%) was...
Ikaros and Foxp1 are transcription factors that play key roles in normal lymphopoiesis lymphoid malignancies. We describe a novel physical functional interaction between the proteins, which requires central zinc finger domain of Ikaros. The Ikaros-Foxp1 is abolished by deletion this region, corresponds to IK6 isoform commonly associated with high-risk acute lymphoblastic leukemia (ALL). also identify Gpr132 gene, encodes orphan G protein-coupled receptor G2A, as target for Foxp1. Increased...
Objective. To determine if the mutations in CARD15/NOD2 gene predisposing to Crohn's disease (CD) contribute also genetic susceptibility rheumatoid arthritis (RA). Methods. The frequencies of three commonest CD (2104C > T, 2722G>C and 3020insC) were determined 210 RA patients 227 controls. Results. Allelic (2104C>T, 2.8%; 2722G>C, 0.9%; 3020insC, 2.4%) did not differ significantly from controls 5.3%; 0.7%; 1.1%). Conclusion. There was no evidence association between susceptibility.
The differentiation of self-renewing progenitor cells requires not only the regulation lineage- and developmental stage–specific genes but also coordinated adaptation housekeeping functions from a metabolically active, proliferative state toward quiescence. How metabolic cell-cycle states are with cell type–specific is an important question, because dissociation between differentiation, cycle, hallmark cancer. Here, we use model system to systematically identify key transcriptional...
Abstract Recent evidence suggests that external stimuli can shape transcriptomes (sensogenomics). Specifically, the analysis of capillary blood samples has shown musical modulate gene expression patterns, in healthy individuals but also those with age-related cognitive disorders (ACD), based on. Here, we present groundbreaking indicating brief exposure to music impact salivary transcriptome both donors and ACD patients. Our findings reveal a more pronounced effect on patients compared...
We aimed to identify common mCRC profiles associated with a discordant mutational status of RAS between the standard care (SoC) tumour tissue tests and ctDNA understand detection improve treatment responses. This was multicentre, retrospective prospective study. A total 366 Spanish patients were independently recruited. BEAMing ddPCR technology employed detect mutations, logistic regression analyses performed investigate clinicopathological factors discordance. The highest concordance ratios...
Review on ITGA9, with data DNA/RNA, the protein encoded and where gene is implicated.