A5024097289- Cytokine Signaling Pathways and Interactions
- Nuclear Receptors and Signaling
- Cancer Mechanisms and Therapy
- Neuroblastoma Research and Treatments
- Neurofibromatosis and Schwannoma Cases
- Bioinformatics and Genomic Networks
- Melanoma and MAPK Pathways
- Epigenetics and DNA Methylation
- Single-cell and spatial transcriptomics
- Computational Drug Discovery Methods
- FOXO transcription factor regulation
- Nerve Injury and Rehabilitation
- Bone Metabolism and Diseases
- NF-κB Signaling Pathways
- T-cell and B-cell Immunology
- RNA modifications and cancer
- Advanced Proteomics Techniques and Applications
- Gene Regulatory Network Analysis
- Biotin and Related Studies
- Cell Adhesion Molecules Research
- Synthesis and biological activity
- Tuberous Sclerosis Complex Research
- Sarcoma Diagnosis and Treatment
- Genetic Associations and Epidemiology
- Estrogen and related hormone effects
Institut d'Investigació Biomédica de Bellvitge
2010-2023
Institut Català d'Oncologia
2010-2022
Linköping University
2016-2020
Bellvitge University Hospital
2015-2016
Institut d'Investigació Biomèdica de Girona
2012-2013
European Bioinformatics Institute
2013
European Molecular Biology Laboratory
2013
Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública
2012
DNA methylation is the most studied epigenetic mark and CpG central to many biological processes human diseases. Since cancer has highlighted contribution disease of aberrant patterns, such as presence promoter island hypermethylation-associated silencing tumor suppressor genes global hypomethylation defects, their importance will surely become apparent in other pathologies. However, advances obtaining comprehensive methylomes are hampered by high cost time-consuming aspects single...
Human aging cannot be fully understood in terms of the constrained genetic setting. Epigenetic drift is an alternative means explaining age-associated alterations. To address this issue, we performed whole-genome bisulfite sequencing (WGBS) newborn and centenarian genomes. The DNA had a lower methylation content reduced correlation status neighboring cytosine--phosphate--guanine (CpGs) throughout genome comparison with more homogeneously methylated DNA. hypomethylated CpGs observed compared...
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark breast carcinogenesis. In BRCA1 mutation carriers, accumulation stem progenitor cells in normal increased risk developing tumors basal-like type suggest that regulates stem/progenitor cell proliferation differentiation. However, the function this process its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving RHAMM polarity and, when perturbed,...
Abstract Motivation: Web interfaces provide access to numerous biological databases. Many can be accessed in a programmatic way thanks Services. Building applications that combine several of them would benefit from single framework. Results: BioServices is comprehensive Python framework provides major bioinformatics Services (e.g. KEGG, UniProt, BioModels, ChEMBLdb). Wrapping additional based either on Representational State Transfer or Simple Object Access Protocol/Web Description Language...
// Marta Hergueta-Redondo 1 , David Sarrio Ángela Molina-Crespo Rocío Vicario 2 Cristina Bernadó-Morales Lidia Martínez Alejandro Rojo-Sebastián 3 Jordi Serra-Musach 4 Alba Mota 1, 5 Ángel Martínez-Ramírez 6 Maria Ángeles Castilla 7 Antonio González-Martin 8 Sonia Pernas Amparo Cano Javier Cortes 9, 10 Paolo G. Nuciforo 11 Vicente Peg 12 José Palacios 7, 13 Miguel Pujana Joaquín Arribas 2, Gema Moreno-Bueno...
Genomic medicine has paved the way for identifying biomarkers and therapeutically actionable targets complex diseases, but is complicated by involvement of thousands variably expressed genes across multiple cell types. Single-cell RNA-sequencing study (scRNA-seq) allows characterization such changes in whole organs. The based on applying network tools to organize analyze scRNA-seq data from a mouse model arthritis human rheumatoid arthritis, order find diagnostic therapeutic targets....
Early regulators of disease may increase understanding mechanisms and serve as markers for presymptomatic diagnosis treatment. However, early are difficult to identify because patients generally present after they symptomatic. We hypothesized that T cell-associated diseases could be found by identifying upstream transcription factors (TFs) in cell differentiation prioritizing hub TFs were enriched disease-associated polymorphisms. A gene regulatory network (GRN) was constructed time series...
RANK expression is associated with poor prognosis in breast cancer even though its therapeutic potential remains unknown. RANKL and receptor are downstream effectors of the progesterone signaling pathway. However, enriched hormone negative adenocarcinomas, suggesting additional roles for beyond hormone-dependent function. Here, to explore role once tumors have developed, we use mouse mammary tumor virus-Polyoma Middle T (MMTV-PyMT), which mimics patterns seen human adenocarcinomas....
Abstract The generation of B cells is a complex process requiring several cellular transitions, including cell commitment and differentiation. Proper transcriptional control to establish the genetic programs characteristic each stage essential for correct development lymphocytes. Deregulation these particular may result in block B-cell maturation, contributing hematological malignancies such as leukemia lymphoma. However, very little currently known about role repressors normal aberrant...
Abstract Introduction Endocrine therapies targeting cell proliferation and survival mediated by estrogen receptor α (ERα) are among the most effective systemic treatments for ERα-positive breast cancer. However, tumors initially responsive to these acquire resistance through mechanisms that involve ERα transcriptional regulatory plasticity. Herein we identify VAV3 as a critical component in this process. Methods A cell-based chemical compound screen was carried out therapeutic strategies...
Glioblastoma (GBM) still remains an incurable disease being radiotherapy (RT) the mainstay treatment. intra-tumoral heterogeneity and Glioblastoma-Initiating Cells (GICs) challenge design of effective therapies. We investigated GICs non-GICs response to RT in a paired in-vitro model addressed molecular programs activated after RT. Established heterogeneously expressed several markers displayed mesenchymal signature. Upon fractionated RT, reported higher radioresistance compared showed lower...
Inhibitors of the mechanistic target rapamycin (mTOR) are currently used to treat advanced metastatic breast cancer. However, whether an aggressive phenotype is sustained through adaptation or resistance mTOR inhibition remains unknown. Here, complementary studies in human tumors, cancer models and cell lines reveal transcriptional reprogramming that supports metastasis response inhibition. This feature driven by EVI1 SOX9. functionally cooperates with positively regulates SOX9, promotes...
Translational research typically aims to identify and functionally validate individual, disease-specific genes. However, reaching this aim is complicated by the involvement of thousands genes in common diseases, that many those are pleiotropic, is, shared several diseases.We integrated genomic meta-analyses with prospective clinical studies systematically investigate pathogenic, diagnostic therapeutic roles pleiotropic In a novel approach, we first used pathway analysis all published...
Multimorbidity is an emerging topic in public health policy because of its increasing prevalence and socio-economic impact. However, the age- gender-dependent trends disease associations at fine resolution, underlying genetic factors, remain incompletely understood. Here, by analyzing networks from electronic medical records primary care, we identify key conditions shared factors influencing multimorbidity. Three types diseases are outlined: "central", which include chronic non-chronic...
Rett syndrome (RTT) is a severe neurodevelopmental disease caused almost exclusively by mutations to the MeCP2 gene. This may be regarded as synaptopathy, with impairments affecting synaptic plasticity, inhibitory and excitatory transmission network excitability. The complete understanding of mechanisms behind how transcription factor so profoundly affects mammalian brain are yet determined. What known, that involvement in activity-dependent expression programs critical link between this...
Prolactin and progesterone both orchestrate the proliferation differentiation of mammary gland during gestation. Differentiation milk secreting alveoli depends on presence prolactin receptor, downstream Jak2-Stat5 pathway transcription factor Elf5. A strict regulation Rank signaling is essential for in particular alveolar commitment. Impaired alveologenesis lactation failure are observed both, knockout overexpressing mice; however, underlying molecular mechanism responsible these phenotypes...
Lymphangioleiomyomatosis (LAM) is a rare lung-metastasizing neoplasm caused by the proliferation of smooth muscle-like cells that commonly carry loss-of-function mutations in either tuberous sclerosis complex 1 or 2 (TSC1 TSC2) genes. While allosteric inhibition mechanistic target rapamycin (mTOR) has shown substantial clinical benefit, complementary therapies are required to improve response and/or treat specific patients. However, there lack LAM biomarkers could potentially be used monitor...
Understanding the mechanisms of cancer therapeutic resistance is fundamental to improving care. There clear benefit from chemotherapy in different breast settings; however, knowledge mutations and genes that mediate incomplete. In this study, by modeling chemoresistance patient-derived xenografts (PDXs), we show adaptation therapy genetically complex identify loss transcription factor 4 (TCF4) associated with process. A triple-negative BRCA1-mutated PDX was used study genetics...
Cancer patients often show no or only modest benefit from a given therapy. This major problem in oncology is generally attributed to the lack of specific predictive biomarkers, yet global measure cancer cell activity may support comprehensive mechanistic understanding therapy efficacy. We reasoned that network analysis omic data could help achieve this goal. A "cancer activity" (CNA) was implemented based on previously defined feature communicability. The nodes and edges corresponded human...
Malignant peripheral nerve sheath tumors (MPNST) are soft-tissue sarcomas that the leading cause of mortality in patients with Neurofibromatosis type 1 (NF1). Single chemotherapeutic agents have shown response rates ranging from 18% to 44% clinical trials, so there is still a high medical need identify combination treatments improve prognosis and outcome. We screened collection compounds NCATS Mechanism Interrogation PlatE (MIPE) library three MPNST cell lines, using viability apoptosis...
Journal Article Cancer develops, progresses and responds to therapies through restricted perturbation of the protein#x2013;protein interaction network Get access Jordi Serra-Musach, Serra-Musach Translational Research Laboratory, Breast Unit, Catalan Institute Oncology (ICO), Bellvitge for Biomedical (IDIBELL), Gran via 199, L'Hospitalet del Llobregat, Barcelona 08908, Catalonia, SpainICO, IdIBGi, Girona 17007, Spain Search other works by this author on: Oxford Academic Google Scholar Helena...
Specific immunotherapy (SIT) reverses the symptoms of seasonal allergic rhinitis (SAR) in most patients. Recent studies report type I interferons shifting balance between T helper cell (Th1) and II cells (Th2) towards Th2 dominance by inhibiting differentiation naive into Th1 cells. As SIT is thought to cause a shift dominance, we hypothesized that would alter interferon signaling. To test this, allergen diluent challenged CD4 + from healthy controls patients different time points were...