A5089216576- Epigenetics and DNA Methylation
- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Adrenal and Paraganglionic Tumors
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Thyroid Cancer Diagnosis and Treatment
- Cancer Cells and Metastasis
- Cancer-related gene regulation
- Neuroendocrine Tumor Research Advances
- BRCA gene mutations in cancer
- Insect and Arachnid Ecology and Behavior
- TGF-β signaling in diseases
- Genomics and Chromatin Dynamics
- Plant and animal studies
- Tissue Engineering and Regenerative Medicine
- Insect and Pesticide Research
- Helicobacter pylori-related gastroenterology studies
- Cancer, Lipids, and Metabolism
- Cancer-related molecular mechanisms research
- Glioma Diagnosis and Treatment
- Hedgehog Signaling Pathway Studies
- Genetic Syndromes and Imprinting
- Clusterin in disease pathology
- Prostate Cancer Treatment and Research
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2016-2025
Universitat Autònoma de Barcelona
2021-2025
Hospital Universitari Germans Trias i Pujol
2021-2025
Centre for Biomedical Network Research on Rare Diseases
2018-2025
Instituto de Salud Carlos III
2018-2025
Institute of Predictive and Personalized Medicine of Cancer
2014-2024
Institut Català d'Oncologia
2005-2023
Institut d'Investigació Biomédica de Bellvitge
2005-2007
University of Illinois Urbana-Champaign
2006
Australian Research Council
2006
DNA methylation systems are well characterized in vertebrates, but Drosophila melanogaster and other invertebrates remains controversial. Using the recently sequenced honey bee genome, we present a bioinformatic, molecular, biochemical characterization of functional system an insect. We report on catalytically active orthologs vertebrate methyltransferases Dnmt1 Dnmt3a b, two isoforms that contain methyl-DNA binding domain, genomic 5-methyl-deoxycytosine, CpG-methylated genes. The provides...
Abstract The transcription factors Snail, Slug, and bHLH E47 have been recently described as direct repressors of E-cadherin inducers epithelial-mesenchymal transition (EMT) invasion when overexpressed in epithelial cells. Although a role those tumor progression has proposed, whether the different play distinct or redundant roles tumorigenic process not established. To further investigate this important issue, we analyzed gene expression profiling Madin-Darby canine kidney (MDCK) cells...
Overexpression of the transcription factor Snail in epithelial MDCK cells promotes epithelial-mesenchymal transition (EMT) and acquisition an invasive phenotype. We report here that expression is associated with increase promoter activity matrix metalloproteinase MMP-9. The effect silencing on MMP-9 corroborates this finding. Induced by driven a mechanism dependent MAPK phosphoinositide 3-kinase (PI3K) signalling pathways. Although other regions were required for complete stimulation Snail,...
Hepatoblastoma (HB) is a rare disease. Nevertheless, it the predominant pediatric liver cancer, with limited therapeutic options for patients aggressive tumors. Herein, we aimed to uncover mechanisms of HB pathobiology and identify new biomarkers targets in move towards precision medicine advanced HB.We performed comprehensive genomic, transcriptomic epigenomic characterization 159 clinically annotated samples from 113 HB, using high-throughput technologies.We discovered widespread...
Methylation of the cytosine is most frequent epigenetic modification DNA in mammalian cells. In humans, methylated cytosines are found CpG-rich sequences within tandem and interspersed repeats that make up to 45% human genome, being Alu common family. Demethylation elements occurs aging cancer processes has been associated with gene reactivation genomic instability. By targeting unmethylated SmaI site sequence as a surrogate marker, we have quantified identified on scale. Normal colon...
Thyroid cancer is a heterogeneous disease with several subtypes characterized by cytological, histological and genetic alterations, but the involvement of epigenetics not well understood. Here, we investigated role aberrant DNA methylation in development well-differentiated thyroid tumors. We performed genome-wide profiling largest tumor series reported to date, comprising 83 primary tumors as 8 samples adjacent normal tissue. The epigenetic profiles were closely related only histology also...
Cancer cells exhibit multiple epigenetic changes with prominent local DNA hypermethylation and widespread hypomethylation affecting large chromosomal domains. Epigenome studies often disregard the study of repeat elements owing to technical complexity their undefined role in genome regulation. We have developed NSUMA ( N ext-generation S equencing U n M ethylated A lu ), a cost-effective approach allowing unambiguous interrogation methylation more than 130,000 individual Alu elements, most...
Pharmacologic treatment of acromegaly is currently based upon assay-error strategy, the first-generation somatostatin receptor ligands (SRL) being first-line treatment. However, about 50% patients do not respond adequately to SRL. Our objective was evaluate potential usefulness different molecular markers as predictors response We used somatotropinoma tissue obtained after surgery from a national cohort 100 acromegalic patients. Seventy-one were treated with SRL during at least 6 months...
Abstract Context Medical treatment of acromegaly is currently performed through a trial-and-error approach using first-generation somatostatin receptor ligands (fgSRLs) as first-line drugs, with an effectiveness about 50%, and subsequent drugs are indicated clinical judgment. Some biomarkers can predict fgSRLs response. Objective Here we report the results ACROFAST study, trial in which protocol based on predictive was evaluated. Methods This prospective (21 university hospitals) comparing...
It is critical to identify biomarkers and functional networks associated with aggressive thyroid cancer anticipate disease progression facilitate personalized patient management. We performed miRNome sequencing of 46 tumors enriched advanced patients a median follow‐up 96 months. MiRNome profiles correlated tumor‐specific histopathological molecular features, such as stromal cell infiltration tumor driver mutation. Differential expression analysis revealed consistent hsa‐miR‐139‐5p...
Abstract Predicting which acromegaly patients could benefit from somatostatin receptor ligands (SRL) is a must for personalized medicine. Although many biomarkers linked to SRL response have been identified, there no consensus criterion on how assign this pharmacologic treatment according biomarker levels. Our aim provide better predictive tools an accurate patient stratification regarding the ability respond SRL. We took advantage of multicenter study 71 and we used advanced mathematical...
Hyperintensity signal in T2-weighted magnetic resonance imaging (MRI) has been related to better therapeutic response during pasireotide treatment acromegaly. The aim of the study was evaluate T2 MRI intensity and its relation with effectiveness real-life clinical practice.Retrospective multicentre including acromegaly patients treated pasireotide. Adenoma at diagnosis qualitatively classified as iso-hyperintense or hypointense. Insulin-like growth factor (IGF-I), hormone (GH) tumour volume...
Background: Distant metastases (DM) are the leading cause of thyroid cancer-related death in patients with differentiated cancer (DTC). Despite significant progress understanding DNA methylation DTC, landscape metastatic primary tumors and DM remains unclear. Our objective was to investigate dynamics during DTC progression, a secondary goal assessing potential clinical implications. Materials Methods: We conducted multicenter retrospective study who underwent surgery at five university...
Abstract Purpose To describe the development of AcroFace system, an AI-based system for early detection acromegaly, based on facial photographs analysis. Methods Two types features were explored: (1) visual/texture a set 2D images, and (2) geometric information obtained from reconstructed 3D model single image. We optimized acromegaly by integrating SVM CNNs visual features, each chosen their strength in processing distinct data effectively. This combination enhances overall accuracy...
Global DNA hypomethylation is a major event for the development and progression of cancer, although significance in thyroid cancer remains unclear. Therefore, we aimed to investigate its role potential as prognostic marker. Alu repeats was used surrogate marker global hypomethylation, assessed using Quantification Unmethylated technique. Mutations BRAF RAS were determined by Sanger sequencing. Ninety primary tumors included [28 low-risk differentiated (DTC), 13 pediatric DTC, 33 distant...