A5066247450- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Colorectal Cancer Treatments and Studies
- Aquaculture disease management and microbiota
- Wnt/β-catenin signaling in development and cancer
- Vibrio bacteria research studies
- Radiomics and Machine Learning in Medical Imaging
- Immune Cell Function and Interaction
- Hippo pathway signaling and YAP/TAZ
- Biocrusts and Microbial Ecology
- Salmonella and Campylobacter epidemiology
- Ion Channels and Receptors
- Genetics, Bioinformatics, and Biomedical Research
- Congenital heart defects research
- Nuclear Structure and Function
- Microtubule and mitosis dynamics
- Autism Spectrum Disorder Research
- Peroxisome Proliferator-Activated Receptors
- Hepatocellular Carcinoma Treatment and Prognosis
- Cellular Mechanics and Interactions
- Galectins and Cancer Biology
- 3D Printing in Biomedical Research
- Lung Cancer Treatments and Mutations
- Nuclear Receptors and Signaling
University of Chile
2004-2024
Hospital Universitario Ramón y Cajal
2016
Pontificia Universidad Católica de Chile
2013
Summary Large epidemics of diarrhoea associated with seafood consumption and Vibrio parahaemolyticus occurred during the austral summers 2004 2005 in environs Puerto Montt, Chile (41°29′S 72°24′W). There are no reports V. infections before this region, their absence being explained by low ocean temperatures which seldom reach 16°C. We analysed obtained from shellfish clinical samples epidemics. Isolates were examined using conventional protocols an improved method for restriction enzyme...
Altered expression of some members the TRP ion channel superfamily has been associated with development pathologies like cancer. In particular, TRPM4 levels are reportedly elevated in diffuse large B-cell non-Hodgkin lymphoma, prostate, and cervical However, whether such changes may be relevant to genesis or progression cancer remains unknown. Here we show that reducing decreases proliferation HeLa cells, a cancer-derived cell line. this line, constitutive silencing promoted GSK-3β-dependent...
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive deterioration of cognitive abilities, accumulation the amyloid-β peptide (Aβ), increase oxidative stress, and synaptic alterations. The scavenging reacti
Colorectal cancer (CRC) is the second leading cause of deaths globally. While ethnic differences in driver gene mutations have been documented, South American population remains understudied at genomic level, despite facing a rising burden CRC. We analyzed tumors 40 Chilean CRC patients (Chp) using next-generation sequencing and compared them to data from mainly Caucasian cohorts (TCGA MSK-IMPACT). identified 388 96 out 135 genes, with TP53 (45%), KRAS (30%), PIK3CA (22.5%), ATM (20%), POLE...
Ski is a transcriptional regulator that has been considered an oncoprotein given its ability to induce oncogenic transformation in avian model systems. However, studies mouse and some human tumor cells have also indicated suppressor activity for this protein. We found Ski-/- embryo fibroblasts exhibit high levels of genome instability, namely aneuploidy, consistent with function Ski. Time-lapse microscopy revealed lagging chromosomes chromatin/chromosome bridges as the major cause...
Next-generation sequencing (NGS) is progressively being used in clinical practice. However, several barriers preclude using this technology for precision oncology most Latin American countries. To overcome some of these barriers, we have designed a 25-gene panel that contains predictive biomarkers current and near-future available therapies Chile America. Library preparation was optimized to account low DNA integrity observed formalin-fixed paraffin-embedded tissue. The workflow includes an...
Colorectal cancer is a complex disease with high mortality rates. Over time, the treatment of metastatic colorectal (mCRC) has gradually improved due to development modern chemotherapy and targeted therapy regimens. However, inherent heterogeneity this condition, identifying reliable predictive biomarkers for therapies remains challenging. A recent promising classification system-the consensus molecular subtype (CMS) system-offers potential categorize mCRC patients based on their unique...
Genetic screening to determine an etiologic diagnosis in children with mental retardationBackground: Mental retardation or intellectual disability affects 2% of the general population, but 60% 70% cases real cause this is not known. An early can lead opportunities for improved educational interventions, reinforcing weak areas and providing a genetic counseling family. Aim: To search diseases underlying disabilities attending special education school. Material methods:A clinical geneticist...
Abstract Advances in understanding the genetic landscape of cancer have paved way for more precise molecular profiling and development efficacious therapeutic options. However, underrepresentation clinical research endeavors has left Latin American population uncharacterized, which may prevent them from reaping benefits these advancements. This study sought to identify drivers actionable mutations solid tumors Chilean patients, enhancing our mutational a with genetically diverse background...
Ooplasmic segregation in the late interphase zygote of leech Theromyzon trizonare is accomplished by reorganization an ectoplasmic cytoskeleton formed polar rings and meridional bands. The dynamic properties this were explored time-lapse confocal video microscopy. Cytoskeleton assembly was investigated zygotes pulse-labeled with microinjected fluorophore-tagged or biotin-tagged dimeric tubulin G-actin. disassembly studied comparing linear dimensions at different time points during...
e16717 Background: Human gallbladder cancer research lacks in vitro models that can recapitulate the pathophysiology of original tumor and normal epithelia. Organoids cultures emulate heterogeneity have been successively used as translational to evaluate clinical response anticancer drug. Here, we established characterized patients derived organoids culture (PDOs) from human patients. Methods: Fresh tissues obtained who underwent cholecystectomy were digested with Collagenase/Dispase,...
Abstract Background: Measurement of estrogen receptor (ER), progesteron (PR) and human epidermal growth factor 2 (HER2) status in early breast cancer is critical for informing treatment recommendations. Targetprint®, a commercially available microarray-based test, measures mRNA levels ER, PR HER2 genes. The aim this study was to investigate the concordance accuracy local clinical subtyping by inmunohistochemistry (IHC) fluorescence situ hybridization (FISH) with TargetPrint®. Material...
Abstract Invariant natural killer T (iNKT) cells are a specialized group of unconventional that recognize glycolipids presented by the surface protein CD1d, expressed most antigen-presenting cells. This results in rapid secretion wide array cytokines without need for prior antigen immunization, thus making iNKT an attractive target immunotherapy. Marine sponge sphingolipid α-galactosylceramide (α-GalCer) is potent agonist cell activation, characterized inducing both Th1- and Th2-like...
Abstract The genomic characterization of solid tumors and a rapidly growing repertoire target drugs are revolutionizing cancer treatment. Next-generation sequencing (NGS) panels progressively used in clinical practice for therapy high-income countries. In contrast, limited access to tumor sequencing, among other barriers, precludes precision treatment low- middle-income To build towards the implementation oncology Chile Latin America, we designed 25-gene panel that contains predictive...