A5017702946- Platelet Disorders and Treatments
- Hemophilia Treatment and Research
- Blood groups and transfusion
- Cancer-related gene regulation
- Blood Coagulation and Thrombosis Mechanisms
- Immune Cell Function and Interaction
- HIV Research and Treatment
- T-cell and B-cell Immunology
- Blood disorders and treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genomics and Rare Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Neurogenetic and Muscular Disorders Research
- RNA and protein synthesis mechanisms
- Hematopoietic Stem Cell Transplantation
- Public Health and Social Inequalities
- Chronic Myeloid Leukemia Treatments
- Prenatal Screening and Diagnostics
- CRISPR and Genetic Engineering
- Pluripotent Stem Cells Research
- Immunodeficiency and Autoimmune Disorders
- Biomedical Ethics and Regulation
- Antiplatelet Therapy and Cardiovascular Diseases
- Eosinophilic Disorders and Syndromes
- Venous Thromboembolism Diagnosis and Management
Universitat Autònoma de Barcelona
1998-2024
Vall d'Hebron Institut de Recerca
2015-2024
Centro de Investigación en Red en Enfermedades Cardiovasculares
2017-2024
Instituto de Salud Carlos III
2018-2024
Banc de Sang i Teixits
2015-2024
Centro de Investigación Biomédica en Red
2021-2024
Hospital de Sant Pau
1997-2022
Hospital Universitari Joan XXIII de Tarragona
2012-2021
Institut d'Investigació Sanitària Pere Virgili
2012-2021
Universitat Rovira i Virgili
2014-2021
MicroRNAs (miRNAs) play important roles in diverse biological processes and are emerging as key regulators of tumorigenesis tumor progression. To explore the dysregulation miRNAs breast cancer, a genome-wide expression profiling 939 was performed 50 cancer patients. A total 35 were aberrantly expressed between tissue adjacent normal several novel identified potential oncogenes or suppressor tumorigenesis. miR-125b exhibited largest decrease expression. Enforced mammary cells decreased cell...
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function the immune system. The increasing use next-generation sequencing (NGS) technology has greatly facilitated identification genetic defects in PID patients daily clinical practice. Several NGS approaches are available, from unbiased whole exome (WES) specific gene panels. Here, we report on 3-year experience with (CES) for...
The development of new biomarkers for human male infertility is crucial to improve the diagnosis and prognosis this disease. Recently, seminal microbiota was shown be related sperm quality parameters, suggesting an effect in fertility postulating it as a biomarker candidate. However, its relationship DNA integrity has not been studied yet. aim present study characterize western Mediterranean population evaluate chromatin oxidative stress. For that purpose, 14 samples from donors 42 infertile...
The nitric oxide synthase family of proteins is the unique class mammalian enzymes that metabolizes L ‐arginine to form (NO). atherogenic action low‐density lipoproteins (LDL) may be mediated, in part, by its effects on endothelial‐derived oxide. To determine whether native LDL (nLDL), at concentrations, are capable modulating NO expression, we treated human umbilical vein endothelial cells with increasing concentrations nLDL (0−240 mg cholesterol/dl) for various time periods (2−48 h)....
Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost conventional molecular analyses. The need for clinical characterization Spain prompted creation a multicenter project (PCM-EVW-ES) that resulted largest prospective cohort study all types disease. analysis relevant regions VWF, including intronic promoter regions, was achieved 556 individuals recruited via development simple, innovative, relatively low-cost protocol...
The diagnosis of von Willebrand disease (VWD) remains difficult in a significant proportion patients. A Spanish multicentre study investigated cohort 556 patients from 330 families who were analysed centrally. VWD was confirmed 480. Next generation sequencing (NGS) the whole coding VWF carried out all recruited patients, compared with phenotype, and final established. total 238 different mutations found, 154 not included Leiden Open Variation Database (LOVD). Of 463 found to have mutation/s....
We here describe a simple, efficient DNA sequencing procedure for hemophilia A molecular diagnosis. In severe patients we first test the presence of factor VIII gene intron 22 inversion using recently described single-tube PCR method. moderate, mild, or inversion-negative systematically sequence promoter, all exons and splice junctions gene. Specially designed primers allow amplification 23 products under same salt conditions thermocycling parameters. The whole procedure, from blood...
Summary Molecular diagnosis of von Willebrand Disease (VWD) is particularly complex. The autosomal factor gene (VWF) large and highly polymorphic, there a homologous (>96%) partial pseudogene in chromosome 22. Because these difficulties, application molecular study VWD to the clinical routine has been considerably delayed. Recent advances sequencing technology bioinformatics could convert direct complete VWF into diagnostic tool for VWD, which especially desirable types 1 3. This...
miR-146a is a microRNA whose transcript levels are induced in the heart upon activation of NF-κB, transcription factor by pro-inflammatory molecules strongly related to pathogenesis cardiac disorders. The main goal this study consisted studying new roles pathological processes caused cytokine TNF-α. Our results demonstrate that were sharply increased ventricular tissue transgenic mice with specific overexpression TNF-α heart, and also cardiomyocyte cell line human origin (AC16) exposed Among...
Abstract Background iPSC (induced pluripotent stem cells) banks of lines with homozygous HLA (human leukocyte antigen) haplotypes (haplobanks) are proposed as an affordable and off-the-shelf approach to allogeneic transplantation derived cell therapies. Cord blood offer extensive source HLA-typed cells suitable for reprogramming iPSC. Several initiatives worldwide have been undertaken create national international haplobanks that match a significant part population. Methods To haplobank...
Thymic function has been mainly analyzed with surrogate peripheral markers affected by T-cell expansion, making it difficult to assess the role of thymic failure in human immunodeficiency virus (HIV) disease progression. The assay signal-joint/DβJβ rearrangement excision circles (sj/β-TREC ratio) overcomes this limitation but only assayed small cohorts. Thus, aim study was determine function, measured sj/β-TREC ratio, on CD4 maintenance prospective HIV cohorts that include patients a wide...
Factor XI (FXI) deficiency is a rare disorder with molecular heterogeneity in Caucasians but relatively frequent and molecularly homogeneous certain populations.To characterize FXI Spanish town of 60 000 inhabitants.A total 324 764 APTT tests were screened during 20 years. was evaluated by FXI:C Western blot. Genetic analysis F11 performed sequencing, multiplex ligation-dependent probe amplification genotyping.Our study identified 46 unrelated cases 170 relatives carrying 12 different...
The identification of inherited antithrombin deficiency (ATD) is critical to prevent potentially life-threatening thrombotic events. Causal variants in SERPINC1 are identified for up 70% cases, the majority being single-nucleotide and indels. detection characterization structural (SVs) ATD remain challenging due high number repetitive elements SERPINC1. Here, we performed long-read whole-genome sequencing on 10 familial 9 singleton cases with type I proven by functional antigen assays, who...
Genetic analysis of von Willebrand disease by factor gene sequencing has not yet become routine practice. Nevertheless, the prospects for molecular diagnosis have changed dramatically in recent years with unveiling next-generation platforms. With goal applying this technology to disease, we designed a strategy enrichment and multiplexing based on short polymerase chain reactions. Forty patients were simultaneously analyzed enabling identification 43 mutations, including 36 substitutions, 2...
Essentials•The differential diagnosis of acute thrombotic microangiopathy (TMA) is challenging.•To the ADAMTS13 activity < or >10% was added a next‐generation sequencing (NGS) gene panel.•The mutation p.Cys754Arg frequent in hereditary thrombocytopenic purpura.•We identified novel complement mutations and this procedure improved our diagnostic strategy.BackgroundThe 2 main forms are purpura (TTP) atypical hemolytic uremic syndrome (aHUS). Deficiency dysregulation pathway result TTP aHUS,...
Background. Maraviroc is the first antiretroviral (ART) drug to target a human protein, CCR5 coreceptor; however, mechanisms of maraviroc-associated immunomodulation in immunodeficiency virus (HIV)–infected subjects remain be elucidated. Regulatory T cells (Tregs) play key role HIV-associated immunopathology and are susceptible maraviroc-mediated blockade. Our aim was evaluate effect maraviroc on Tregs.
Summary The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable tendency and heterogeneous laboratory phenotype. sequencing entire VWF coding region has not yet become routine practice in diagnostic laboratories owing to its high costs. Nevertheless, nextgeneration (NGS) emerged as an alternative overcome this limitation. We aimed determine correlation genotype phenotype 92 Portuguese individuals from 60 unrelated families...
Allele-level HLA compatibility in cord blood transplantation has been associated with better transplant outcomes and is recommended as a selection criterion. It also crucial aspect for other therapeutic applications involving blood-derived cells. Determination of high-resolution frequencies an important step towards improving the quality banks. We analyzed HLA-A, -B, -C, -DRB1, -DQB1 allele 5458 high-quality units from Barcelona Cord Blood Bank identified 275 class I 121 II alleles. A*02:01,...
Experimental autoimmune encephalomyelitis (EAE) constitutes a paradigm of antigen (Ag)-specific T cell driven diseases. In this study, we transferred bone marrow cells (BMCs) expressing an autoantigen (autoAg), the peptide 40-55 myelin oligodendrocytic glycoprotein (MOG(40-55)), to induce preventive and therapeutic immune tolerance in murine EAE model. Transfer BMC MOG(40-55) (IiMOG-BMC) into partially myeloablated mice resulted molecular chimerism robust protection from experimental...
Recent works have highlighted the role of NOR-1 in both smooth and skeletal muscle, proposed this nuclear receptor as a nexus that coordinates muscle performance metabolic capacity. However, no specific genes regulated by been identified so far. To identify target genes, we over-expressed human vascular cells (VSMC). These subjected to sustained over-expression supraphysiological levels experienced marked phenotypic changes up-regulated protein X-linked (SMPX), typically expressed striated...