A5070202838- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Multiple Sclerosis Research Studies
- RNA and protein synthesis mechanisms
- Genomics and Chromatin Dynamics
- Peripheral Neuropathies and Disorders
- RNA Research and Splicing
- Immunotherapy and Immune Responses
- Epigenetics and DNA Methylation
- Systemic Lupus Erythematosus Research
- RNA modifications and cancer
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Plant Disease Resistance and Genetics
- Studies on Chitinases and Chitosanases
- T-cell and Retrovirus Studies
- Genomic variations and chromosomal abnormalities
- Cell death mechanisms and regulation
- Heat shock proteins research
- Peroxisome Proliferator-Activated Receptors
- Lymphoma Diagnosis and Treatment
- Virology and Viral Diseases
- NF-κB Signaling Pathways
- Carcinogens and Genotoxicity Assessment
- Systemic Sclerosis and Related Diseases
Centre for Genomic Regulation
2018-2023
Barcelona Institute for Science and Technology
2018-2023
Hôpital Lyon Sud
2023
Hospital del Mar Research Institute
2018-2020
Universitat Autònoma de Barcelona
2006-2010
Vall d'Hebron Hospital Universitari
2006-2010
Centre d'Esclerosi Múltiple de Catalunya
2010
Institute of Neuroimmunology of the Slovak Academy of Sciences
2010
In most patients with multiple sclerosis, the disease initiates a first attack or clinically isolated syndrome. At this phase, magnetic resonance imaging is an important predictor of conversion to sclerosis. With exception oligoclonal bands, role other biomarkers in syndrome controversial. present study, we aimed identify proteins associated sclerosis We applied mass spectrometry-based proteomic approach (isobaric labelling) previously collected pooled cerebrospinal fluid samples from...
The effect of interferon-beta in multiple sclerosis is modest and many patients do not respond to treatment. To date, no single biomarker reliably correlates with responsiveness interferon-β sclerosis. In the present study, genome-wide expression profiling was performed peripheral blood mononuclear cells from 47 treated for a minimum 2 years classified as responders non-responders based on clinical criteria. A validation cohort 30 included study replicate gene-expression findings. Before...
Mammalian gametogenesis involves dramatic and tightly regulated chromatin remodeling, whose regulatory pathways remain largely unexplored. Here, we generate a comprehensive high-resolution structural functional atlas of mouse spermatogenesis by combining in situ chromosome conformation capture sequencing (Hi-C), RNA (RNA-seq), immunoprecipitation (ChIP-seq) CCCTC-binding factor (CTCF) meiotic cohesins, coupled with confocal super-resolution microscopy. Spermatogonia presents well-defined...
Abstract Mammalian Y chromosomes are often neglected from genomic analysis. Due to their inherent assembly difficulties, high repeat content, and large ampliconic regions, only a handful of species have chromosome properly characterized. To date, just single human reference quality chromosome, European ancestry, is available due lack accessible methodology. facilitate the such complicated territory, we developed novel strategy sequence native, unamplified flow sorted DNA on MinION nanopore...
Fatigue is one of the most limiting symptoms in multiple sclerosis (MS) and mechanisms underlying its origin are poorly understood. Our aim was to test whether fatigue MS associated with endocrine markers.We longitudinally studied 73 progressive patients. assessed at baseline 3, 6, 12 24 months using Severity Scale (FSS). Given longitudinal design our study, patients were labelled as sustained fatigued when FSS scores >5.0 all time points, non-fatigued < or = 5.0 points. Serum levels...
Abstract Chromosome-scale genome assemblies based on ultralong-read sequencing technologies are able to illuminate previously intractable aspects of biology such as fine-scale centromere structure and large-scale variation in features heterochromatin, GC content, recombination rate, gene content. We present here a new chromosome-scale the Mongolian gerbil (Meriones unguiculatus), which includes complete sequence all centromeres. Gerbils thus one first vertebrates have their centromeres...
The granule-dependent exocytosis pathway is an important mechanism to induce apoptosis by CD8(+) T cells and NK involves lytic molecules such as perforin. In the current study, we investigated perforin 1 gene (PRF1) a candidate for multiple sclerosis (MS) susceptibility in Spanish population. We genotyped three PRF1 single nucleotide polymorphisms (rs885822, rs10999426, rs3758562) 420 patients with MS 512 controls. Associations of disease were restricted male MS, finding was consistently...
Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much actual isoform repertoire contributing shaping primate evolution remains unknown. Here, we combined deep long- short-read sequencing complemented with mass spectrometry proteomics in a panel lymphoblastoid cell lines (LCLs) from human, three other great apes, rhesus macaque, producing largest full-length catalog primates date. Around half captured...
The 15-deoxi delta prostaglandin J(2) (15d-PGJ(2)) is a peroxisome proliferator-activated receptor-gamma agonist with potent anti-inflammatory properties. It has been suggested that 15d-PGJ(2) may modulate multiple sclerosis (MS).Here, we investigated the plasma levels of by enzyme-linked immunoassay in 28 healthy controls and 140 MS patients [30 primary-progressive MS, secondary-progressive 82 relapsing-remitting (28 during clinical remission, 25 relapse, 29 treated interferon-beta -...
Abstract Recent advances in long-read sequencing technologies have allowed the generation and curation of more complete genome assemblies, enabling analysis traditionally neglected chromosomes, such as human Y chromosome (chrY). Native DNA was sequenced on a MinION Oxford Nanopore Technologies device to generate assemblies for seven major chrY haplogroups. We analyzed compared enrichment data obtained using two different selective approaches: adaptive sampling flow cytometry sorting. show...
Mammalian Y chromosomes are often neglected from genomic analysis. Due to their inherent assembly difficulties, high repeat content, and large ampliconic regions 1 , only a handful of species have chromosome properly characterized. To date, just single human reference quality chromosome, European ancestry, is available due lack accessible methodology 2–5 . facilitate the such complicated territory, we developed novel strategy sequence native, unamplified flow sorted DNA on MinION nanopore...
Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly isolating from the context genome. We have recently developed a workflow sequence native, unamplified DNA and applied it smallest human chromosome, Y chromosome. Here, we modify improve upon that increase recovery chromosome sorting as well sequencing yield. apply assemble largest - 1 Chinese using single Oxford Nanopore MinION flow cell. generate selective...
Controls MS rs885822 Allele A 480 (57.1) 643 (62.8) 1.3 (1.1-1.5)0.013 0.079 299 (57.5) 333 (60.3) 1.1 (0.9-1.4) 0.352 0.667 181 (56.6) 310 (65.7) 1.5 (1.1-2.0)0.011 0.071 G 360 (42.9) 381 (37.2) 221 (42.5) 219 (39.7) 139 (43.4) 162 (34.3)Genotype AA 143 (34.1) 204 (39.6) 0.8 (0.6-.02) 0.766 0.227 91 (35.0) 99 (35.9)0.9 (0.7-1.4) 0.857 0.999 52 (32.5) 105 (44.5) 0.6 (0.4-0.9) 0.021 0.107 AG 194 (46.2) 235 (45.9) 1.0 (0.8-1.3) 0.947 1.000 117 (45.0) 135 (48.9) 0.9 (0.6-1.2) 0.387 0.695 77...
Mature T-cell neoplasms (MTCN) are heterogeneous diseases with dismal prognosis. Differentiating between the many entities requires specialized pathology expertise, and studies show up to 30% of minor or major diagnostic reclassifications following expert review cases. Assay for transposase-accessible chromatin sequencing (ATAC-seq) is a simple technique profile open regions, which has been shown be highly discriminative clustering solid tumors acute myeloid leukemias. We applied ATAC-seq...
Abstract Chromosome-scale genome assemblies based on ultra-long read sequencing technologies are able to illuminate previously intractable aspects of biology such as fine-scale centromere structure and large-scale variation in features heterochromatin, GC content, recombination rate, gene content. We present here a new chromosome-scale the Mongolian gerbil ( Meriones unguiculatus ) which includes complete sequence all centromeres. Gerbil centromeres composed four different repeats length...
Abstract Recent advances in long-read sequencing technologies have allowed the generation and curation of more complete genome assemblies, enabling analysis traditionally neglected chromosomes, such as human Y chromosome (chrY). Native DNA was sequenced on a MinION Oxford Nanopore Technologies device to generate assemblies for 7 major chrY haplogroups. We analyzed compared enrichment data obtained using two different selective approaches: adaptive sampling flow cytometry sorting. show that...
Abstract Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much actual isoform repertoire contributing shaping primate evolution remains unknown. Here, we combined deep long- short-read sequencing complemented with mass spectrometry proteomics in a panel lymphoblastoid cell lines (LCLs) from human, three other great apes, rhesus macaque, producing largest full-length catalog primates date. Our...