A5049042720- Acute Myeloid Leukemia Research
- Chronic Lymphocytic Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Lymphoma Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
- Cell Adhesion Molecules Research
- Acute Lymphoblastic Leukemia research
- Connective tissue disorders research
- Hemoglobinopathies and Related Disorders
- Cancer Genomics and Diagnostics
- Hematological disorders and diagnostics
- Chronic Myeloid Leukemia Treatments
- Immune Cell Function and Interaction
- Renal Diseases and Glomerulopathies
- Advanced Breast Cancer Therapies
- Renal and related cancers
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Cystic Fibrosis Research Advances
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Iron Metabolism and Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Cancer-related molecular mechanisms research
- Platelet Disorders and Treatments
Vall d'Hebron Hospital Universitari
2019-2025
Vall d'Hebron Institute of Oncology
2017-2025
Universitat Autònoma de Barcelona
2010-2025
Vall d'Hebron Institut de Recerca
2023-2025
Hospital Del Mar
2024
Hebron University
2019-2020
Broad Institute
2011-2018
Harvard Stem Cell Institute
2018
Harvard University
2011-2018
Massachusetts Institute of Technology
2011-2013
Large intergenic noncoding RNAs (lincRNAs) are emerging as key regulators of diverse cellular processes. Determining the function individual lincRNAs remains a challenge. Recent advances in RNA sequencing (RNA-seq) and computational methods allow for an unprecedented analysis such transcripts. Here, we present integrative approach to define reference catalog >8000 human lincRNAs. Our unifies previously existing annotation sources with transcripts assembled from RNA-seq data collected ∼4...
The prevalence of obesity has led to a surge interest in understanding the detailed mechanisms underlying adipocyte development. Many protein-coding genes, mRNAs, and microRNAs have been implicated development, but global expression patterns functional contributions long noncoding RNA (lncRNA) during adipogenesis not explored. Here we profiled transcriptome primary brown white adipocytes, preadipocytes, cultured adipocytes identified 175 lncRNAs that are specifically regulated adipogenesis....
The increasing number of podocyte-expressed genes implicated in steroid-resistant nephrotic syndrome (SRNS), the phenotypic variability, and uncharacterized relative frequency mutations these pediatric adult patients with SRNS complicate their routine genetic analysis. Our aim was to compile clinical data eight podocyte analyzed 110 cases (125 patients) (ranging from congenital onset) provide a testing approach.Mutation analysis performed by sequencing NPHS1, NPHS2, TRPC6, CD2AP, PLCE1,...
The levels of cell free circulating tumor DNA (ctDNA) in plasma correlated with treatment response and outcome systemic lymphomas. Notably, brain tumors, the ctDNA cerebrospinal fluid (CSF) are higher than plasma. Nevertheless, their role central nervous system (CNS) lymphomas remains elusive. We evaluated CSF from 19 patients: 6 restricted CNS lymphomas, 1 lymphoma, 12 performed whole exome sequencing or targeted to identify somatic mutations primary tumor, then variant-specific droplet...
Recent evidence suggests that the prognostic impact of gene mutations in patients with chronic lymphocytic leukemia (CLL) may differ depending on immunoglobulin heavy variable (IGHV) somatic hypermutation (SHM) status. In this study, we assessed nine recurrently mutated genes (BIRC3, EGR2, MYD88, NFKBIE, NOTCH1, POT1, SF3B1, TP53, and XPO1) pre-treatment samples from 4580 CLL, using time-to-first-treatment (TTFT) as primary end-point relation to IGHV SHM Mutations were detected 1588 (34.7%)...
This study investigated the importance of comprehensive genetic diagnosis in pediatric B-cell acute lymphoblastic leukemia (B-ALL). We analyzed 175 B-ALL employing karyotyping, FISH, MLPA, targeted next-generation sequencing (t-NGS), and Optical Genome Mapping (OGM). approach achieved an 83% classification rate, identifying 17 distinct subtypes. Specifically, within B-other subtype, seven different subgroups were identified (ZNF384, IGH, DUX4, NUTM1 rearrangements, PAX5 alterations, P80R,...
ABSTRACT. Familial benign hematuria (FBH) is a common autosomal dominant disorder characterized by the presence of persistent or recurrent hematuria. The clinical and pathologic features this syndrome resemble those early Alport (AS), for reason molecular defect has been proposed. COL4A3/4 genes seem to be involved in both AS FBH. This study involves linkage analysis loci search mutations within these 11 biopsy-proven FBH families. Haplotype showed that locus could not excluded eight nine...
To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation.Mutation analysis was performed in 148 unrelated Spanish patients, whom 50 presented FSGS after 18 years age. Pathogenicity amino acid substitutions evaluated through an silico scoring system. Haplotype carried out using single nucleotide polymorphism microsatellite...
Myelodysplastic syndromes (MDS) are hematopoietic stem cell (HSC) malignancies characterized by ineffective hematopoiesis, with increased incidence in older individuals. Here we analyze the transcriptome of human HSCs purified from young and healthy adults, as well MDS patients, identifying transcriptional alterations following different patterns expression. While aging-associated lesions seem to predispose myeloid transformation, disease-specific may trigger development. Among MDS-specific...
Abstract In chronic lymphocytic leukemia, the reliability of next‐generation sequencing (NGS) to detect TP53 variants ≤10% allelic frequency (low‐VAF) is debated. We tested ability 23 such in 41 different laboratories using their NGS method choice. The sensitivity was 85.6%, 94.5%, and 94.8% at 1%, 2%, 3% VAF cut‐off, respectively. While only one false positive (FP) result reported >2% VAF, it more challenging distinguish true <2% from background noise (37 FPs by 9 laboratories)....
Abstract Despite the well-established adverse impact of del(11q) in chronic lymphocytic leukemia (CLL), prognostic significance somatic ATM mutations remains uncertain. We evaluated effects aberrations (del(11q) and/or mutations) on time-to-first-treatment (TTFT) 3631 untreated patients with CLL, context IGHV gene mutational status and nine CLL-related genes. were present 246 cases (6.8%), frequently co-occurring (112/246 cases, 45.5%). -mutated displayed a different spectrum genetic...
The scarce amount of DNA contained in a singe cell is limiting factor for clinical application preimplantation genetic diagnosis mainly due to the risk misdiagnosis caused by allele dropout and difficulty obtaining copy number variations all 23 pairs chromosomes. Multiple displacement amplification (MDA) has been reported generate large quantity products from small templates. Here, we evaluated fidelity whole-genome MDA single or few cells determined accuracy chromosome assessment on these...
Background. Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder with wide spectrum of renal involvement. Differences in the age at onset end-stage (ESRD) are partially explained by genetic heterogeneity but intrafamilial variability remains to be explained. Modifier genes may play role severity. Methods. A total 355 PKD1 patients from 131 families belonging three different European centres were analysed. According ESRD classified into two groups: early and late onset....
Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. UHs therefore easily precipitating, causing hemolysis and, in some cases, leading to dominant beta-thalassemia (dBTHAL). The clinical picture of is highly heterogeneous, inheritance pattern dominant, instead recessive as more prevalent major Hb syndromes, and may occur de novo . Most cases not detected conventional testing, diagnosis requires a high...
Fragile X syndrome is the commonest familial form of inherited mental retardation. The molecular defect an expansion CGG trinucleotide repeats in 5' untranslated region FMR1 gene that unstable fashion fragile families. In attempt to provide more information about tract intergenerational variation, we have evaluated 642 transmissions 175 PCR and Southern blot (StB12.3) was used analyse number. Among premutated alleles, 90.2% showed expansion, two-thirds a full mutation while rest remained...
Controversial data have been reported about SCA8 since its description in 1999. The most accepted hypothesis is that CTG expansions within the CTA/CTG combined repeat expansion locus causes SCA8. It inherited as a dominant trait with reduced penetrance. present study, reports first regarding Spanish population and clinical findings patients carrying expanded alleles, including one homozygous patient. Two hundred forty‐six individuals from population, controls (149) ataxic (97), were studied....
Abstract Background Mechanisms driving the progression of chronic lymphocytic leukemia (CLL) from its early stages are not fully understood. The acquisition molecular changes at time has been observed in a small fraction patients, suggesting that CLL is mainly driven by dynamic clonal evolution. In order to shed light on mechanisms lead progression, we investigated longitudinal both genetic and immunological scenarios. Methods We performed analysis using paired primary samples untreated...
Abstract Several gene expression profiles with a strong correlation patient outcomes have been previously described in chronic lymphocytic leukemia (CLL), although their applicability as biomarkers clinical practice has particularly limited. Here we describe the training and validation of signature for predicting early progression patients CLL based on analysis 200 genes related to microenvironment signaling NanoString platform. In cohort (n = 154), CLL15 assay containing 15-gene was...