A5071385292- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Cancer-related gene regulation
- Genetics and Neurodevelopmental Disorders
- Cell Adhesion Molecules Research
- Peptidase Inhibition and Analysis
- TGF-β signaling in diseases
- Cancer Cells and Metastasis
- interferon and immune responses
Hospital Del Mar
2023
Universitat de Barcelona
2017-2022
Hospital del Mar Research Institute
2019
Centre for Biomedical Network Research on Rare Diseases
2018
Abstract Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, cardiac defects with high mortality rate. Different patterns of inheritance heterogeneity are known in this syndrome. Whole exome genome sequencing 19-year-old girl (P7), initially diagnosed OTCS, revealed de novo nonsense mutation, p.Q638*, the MAGEL2 gene. an imprinted, maternally silenced, gene located at 15q11-13, within...
Myofibroblasts are a population of highly contractile fibroblasts that express and require the activity transcription factor Snail1. Cancer-associated (CAFs) correlate with low survival cancer patients when present in stroma primary tumors. Remarkably, presence myofibroblastic CAFs (which Snail1) creates mechanical properties tumor microenvironment support metastasis. However, therapeutic blockage fibroblast is double-edged sword, as normal activities often restrict cell invasion. We used...
Abstract De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz trigonocephaly syndrome) is rare genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies ID. Several different chromosome deletions point in distinct genes the disease patients originally diagnosed as Opitz C. By whole exome sequencing we identified de splicing mutation...
Abstract Background As in most solid cancers, the emergence of cells with oncogenic mutations mammary epithelium alters tissue homeostasis. Some soluble factors, such as TGFβ, potently modify behavior healthy stromal cells. A subpopulation cancer-associated fibroblasts expressing a TGFβ target, SNAIL1 transcription factor, display myofibroblastic abilities that rearrange architecture. Breast tumors presence compartment, and aligned extracellular fiber, are associated poor survival prognoses....
Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2 , mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of syndrome. plays a role retrograde transport and protein recycling regulation. Our aim contribute characterisation SYS pathophysiology at clinical, genetic molecular levels. Methods We performed extensive phenotypic mutational revision previously reported patients SYS. analysed secretion levels amyloid-β...
ABSTRACT Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2 , mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of syndrome. plays a role retrograde transport and protein recycling regulation. Our aim contribute characterization SYS pathophysiology at clinical, genetic molecular levels. Methods We performed extensive phenotypic mutational revision previously reported patients. analysed secretion levels...