A5020131178- RNA Research and Splicing
- Hematopoietic Stem Cell Transplantation
- Cancer Genomics and Diagnostics
- Multiple Myeloma Research and Treatments
- Immune Response and Inflammation
- RNA regulation and disease
- Cytokine Signaling Pathways and Interactions
- Neuroinflammation and Neurodegeneration Mechanisms
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Multiple Sclerosis Research Studies
- RNA Interference and Gene Delivery
- Immune cells in cancer
- PI3K/AKT/mTOR signaling in cancer
- CRISPR and Genetic Engineering
- Genetically Modified Organisms Research
- Cancer Cells and Metastasis
- T-cell and Retrovirus Studies
- Viral gastroenteritis research and epidemiology
- Genetics, Bioinformatics, and Biomedical Research
- Epigenetics and DNA Methylation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Diabetes and associated disorders
- Genomics and Chromatin Dynamics
- Law, AI, and Intellectual Property
Lund University
2021-2024
BioCruces Health research Institute
2024
Navarrabiomed
2022
Universidad de Navarra
2022
Stem Cell Institute
2022
Institute for Stem Cell Biology and Regenerative Medicine
2020
University of the Basque Country
2014-2019
Achucarro Basque Center for Neuroscience
2015-2019
Universidad de Oviedo
2013
Universitat de Lleida
2011
Abstract Thousands of non-coding variants have been associated with increased risk human diseases, yet the causal and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) chromatin accessibility in primary cells (caQTL), we investigate 1,039 multiple myeloma (MM). We demonstrate that MM susceptibility is mediated by gene-regulatory changes plasma B-cells, identify putative at six loci...
Abstract Multiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 which are novel. Through functional fine-mapping Mendelian randomization, uncover two causal for inherited risk: longer telomeres; elevated levels B-cell maturation antigen (BCMA)...
<h3>Objective</h3> A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data sufficiently sized and independent sets are needed to assess whether these represent genuine MS risk factors. <h3>Methods</h3> The lead SNPs of all were genotyped 10 796 cases 793 controls from Germany, Spain, France, Netherlands, Austria Russia, previously cohorts. Association analyses performed...
Abstract Background Cytogenetic and gene expression analyses in head neck squamous cell carcinomas (HNSCC) have allowed identification of genomic aberrations that may contribute to cancer pathophysiology. Nevertheless, the molecular consequences numerous genetic alterations still remain unclear. Methods To identify novel genes implicated HNSCC pathogenesis, we analyzed present five HNSCC-derived lines by array CGH, compared high level focal amplifications with levels whose is directly...
An intronic variant in ANKRD55, rs6859219, is a genetic risk factor for multiple sclerosis, but the biological reasons underlying this association are unknown. We characterized expression of ANKRD55 human PBMCs and cell lines. Three transcript variants (Ensembl isoforms 001, 005, 007) could be detected CD4(+) T cells were virtually absent CD8(+), CD14(+), CD19(+), CD56(+) cells. Rs6859219 was significantly associated with levels and, thus, coincides cis-expression quantitative trait locus....
The ankyrin repeat domain-55 (ANKRD55) gene contains intronic single nucleotide polymorphisms (SNPs) associated with risk to contract multiple sclerosis, rheumatoid arthritis or other autoimmune disorders. Risk alleles of these SNPs are higher levels ANKRD55 in CD4+ T cells. biological function is unknown, but given that domains constitute one the most common protein-protein interaction platforms nature, it likely complex proteins. Thus, identification its protein interactomes may provide...
Abstract Introduction SNPs associated with genome-wide risk for multiple sclerosis (MS) modulate expression of ankyrin repeat domain protein 55 (ANKRD55). The function ANKRD55 is not well understood. A role in ciliar transport multiciliated cells has been reported. To gain deeper insight how may neuro-inflammatory parameters, we identified the interactomes from human neuroblastoma, astrocytic, microglial and monocytic cell lines. Methods Cell lines were transfected synthetic RNA conjunction...
ABSTRACT Understanding how hematopoietic stem and progenitor cells (HSPCs) are regulated is of central importance for the development new therapies blood disorders cell transplantation. To date, HSPC regulation has been extensively studied in vitro animal models, but less known about mechanisms vivo humans. Here, a genome-wide association study on 13,167 individuals, we identify 9 significant 2 suggestive DNA sequence variants that influence (CD34 + ) levels human blood. The identified loci...