A5102845848- Trace Elements in Health
- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Connexins and lens biology
- Retinal Imaging and Analysis
- Mercury impact and mitigation studies
- Retinal Development and Disorders
- Nanocluster Synthesis and Applications
- Iron Metabolism and Disorders
- Heavy Metal Exposure and Toxicity
- Advanced Nanomaterials in Catalysis
- Barrier Structure and Function Studies
- Microbial metabolism and enzyme function
- Alcohol Consumption and Health Effects
- Moyamoya disease diagnosis and treatment
- Antioxidant Activity and Oxidative Stress
- RNA regulation and disease
- Medical Coding and Health Information
- Advanced Proteomics Techniques and Applications
- RNA Research and Splicing
- Blood Coagulation and Thrombosis Mechanisms
- Folate and B Vitamins Research
- Plant Genetic and Mutation Studies
- DNA Repair Mechanisms
- Mass Spectrometry Techniques and Applications
Fernández-Vega Ophthalmological Institute
2015-2024
Universidad de Oviedo
2001-2022
Ghent University Hospital
2022
Fundación Neumológica Colombiana
2017
Instituto Dermatológico y Cirugía de Piel "Dr. Huberto Bogaert Díaz"
2017
In-Q-Tel
2013
Universidad Nacional de Colombia
2001
Farnesoid X receptor (FXR) has been recently reported to enhance chemoresistance through bile acid-independent mechanisms. Thus, FXR transfection plus activation with GW4064 resulted in reduced sensitivity cisplatin-induced toxicity. This is interesting because primary tumors of the liver, an organ where expressed, exhibit marked refractoriness pharmacological treatment. Here we have determined whether upregulated hepatocellular carcinoma (HCC), cholangiocarcinoma (CGC) and hepatoblastoma...
Oxidative stress affects all the structures of human eye, particularly retina and its retinal pigment epithelium (RPE). The RPE limits oxidative damage by several protective mechanisms, including non-enzymatic antioxidant system zinc-metallothionein (Zn-MT). This work aimed to investigate role Zn-MT in protection from reactive oxygen intermediates analytical biochemical-based techniques. was induced an vitro model cells determined elemental mass spectrometry with enriched isotopes...
La técnica single cell (sc) ICP-MS permite identificar y cuantificar elementos biomoléculas en células individuales, facilitando el estudio de la heterogeneidad las poblaciones celulares. Para detectar los eventos celulares se suelen monitorizar endógenos (p.e., Ca, Fe, P, etc.). Esta estrategia es relativamente sencilla, aunque presenta problema que dichos encuentran generalmente a baja concentración células. Una alternativa utilizar etiquetas externas añaden para mejorar detectabilidad En...
<h3>Importance</h3> Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber eye. This most commonly known cause glaucoma and major irreversible blindness. <h3>Objective</h3> To determine if exfoliation associated with rare, protein-changing variants predicted to impair function. <h3>Design, Setting, Participants</h3> A 2-stage, case-control, whole-exome sequencing association...
To investigate the role of WDR36 and P53 sequence variations in POAG susceptibility.The authors performed a case-control genetic association study 268 unrelated Spanish patients (POAG1) 380 control subjects matched for sex, age, ethnicity. were screened by either direct DNA sequencing or denaturing high-performance liquid chromatography. polymorphisms p.R72P c.97-147ins16bp analyzed single-nucleotide polymorphism (SNP) genotyping PCR, respectively. Positive SNP haplotype associations...
We examined the profiling of gene expression metallothioneins (MTs) in human tissues from cadaver eyes with microarray-based analysis. All MT1 isoforms, exception MT1B, were abundantly expressed lens and corneal tissue. Along MT4 was not detected any tissues. Antibodies to MT1/2 labeled epithelial endothelial cells, whereas MT3 label retinal ganglion cells. studied effects zinc cytokines on MT isoforms a cell line (HCEsv). Zinc exerted an up-regulation this effect further potentiated...
We evaluate here the combination of two-dimensional liquid chromatography (2D-LC) in multiple heart cutting mode and isotope dilution tandem mass spectrometry for direct analysis tryptic digests serum samples. As a proof concept, we attempt quantification proteotypic peptides Apolipoprotein AIV (APOA4), Complement C3 (C3) Vitronectin (VTN) which have been previously identified as potential candidate biomarkers glaucoma. Using this 2D-LC strategy, analyte enrichment steps are avoided sample...
LOXL1 gene is the most important genetic risk factor known so far for pseudoexfoliation glaucoma (XFG). Our purpose was to evaluate potential association of individual variants lysyl oxidase-like 1 (LOXL1) and haplotypes with XFG in Spanish patients. Blood samples were collected from a total 105 patients 200 healthy controls. The entire along promoter, coding non-coding regions including 5´- 3´-untranslated regions, sequenced using next-generation sequencing 99 SNPs rs16958477 (promoter),...
Nutritional supplementation with antioxidants and vitamins is widely recommended in the treatment of vascular disorders affecting retina, although there insufficient evidence on its effectiveness. The vitamin-like compound coenzyme Q10 (CoQ10) a nutritional supplement current interest to treat neurodegenerative diseases. Here, we report retrospective clinical case series study 48 patients diagnosed retinal diseases, including non-arteritic ischemic optic neuropathy (NAION), artery occlusion...
Study of metals and metallothioneins in the human lens by multidisciplinary combination MS bio-analytical methodologies.
To elucidate the potential role of single-nucleotide polymorphisms (SNPs) in complement factor H (CFH) gene Northern Spanish patients with age-related macular degeneration (AMD).A case-control study 130 unrelated native diagnosed AMD (46 dry, 35 neovascular and 49 mixed) 96 healthy controls matched by age ethnicity were enrolled. DNA was isolated from peripheral blood genotyped for AMD-associated SNPs (rs3753394, rs529825, rs800292, rs3766404, rs203674, rs10671170, rs3753396 rs1065489) using...
The retinal pigment epithelium (RPE) is progressively degenerated during age-related macular degeneration (AMD), one of the leading causes irreversible blindness, which clinical hallmark buildup sub-RPE extracellular material. Clinical observations indicate that Zn dyshomeostasis can initiate detrimental intracellular events in RPE. In this study, we used a primary human fetal RPE cell culture model producing deposits accumulation recapitulates features early AMD to study homeostasis and...
Mass spectrometry-based techniques, such as inductively coupled plasma mass spectrometry (ICPMS) and laser ablation (LA) ICPMS, combined with an isotope pattern deconvolution mathematical tool are proposed for a better understanding of supplementation studies in cultured cells. An vitro model human retinal pigment epithelium (HRPEsv) cells was treated different concentrations (0–150 μm Zn, 1 mL) enriched stable tracers Zn the form sulfate and/or gluconate. Supplementations t68ZnSO4 or...
The determination of endogenous Fe, Cu and Zn in exosomes (<200 nm extracellular vesicles) secreted by an vitro model the human retinal pigment epithelium (HRPEsv cell line) was carried out inductively coupled plasma - mass spectrometry (ICP-MS). Results for cells treated with 2,2'-azobis (2-methylpropionamidine) dihydrochloride (AAPH) inducing oxidative stress (OS) conditions were compared non-treated (control) order to evaluate possible differences metal composition between both groups....
Abstract Purpose To elucidate the potential role of eleven single nucleotide polymorphisms ( SNP s) in most relevant lipid metabolism genes Northern Spanish patients with age‐related macular degeneration AMD ). Methods A case‐control study 228 unrelated native diagnosed (73 dry and 155 wet) 95 healthy controls was performed. DNA isolated from peripheral blood genotyped for s APOE rs429358 rs7412; CTEP rs3764261; LIPC rs10468017 rs493258; LP L rs12678919; ABCA 1 rs1883025; 4 rs76157638,...
Abstract The role of nucleotide excision repair (NER) in the alkylation damage germ cells higher eukaryotes has been studied mainly by treating postmeiotic male cells. Little is known about actively repairing female In this study, we treated NER‐deficient ( ner ‐ ) mus201 D1 Drosophila females with N ‐ethyl‐ ‐nitrosourea (ENU) and determined both mutant frequencies multiple locus recessive lethal (RL) test single vermilion gene ENU mutation spectrum gene. results show that mutagenic all cell...