A5056798781- Lipoproteins and Cardiovascular Health
- Viral gastroenteritis research and epidemiology
- Cholesterol and Lipid Metabolism
- Energy Harvesting in Wireless Networks
- Adipokines, Inflammation, and Metabolic Diseases
- Cancer, Lipids, and Metabolism
- Bacteriophages and microbial interactions
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Atherosclerosis and Cardiovascular Diseases
- Adipose Tissue and Metabolism
- Hormonal Regulation and Hypertension
- Lipid metabolism and disorders
- Bone health and osteoporosis research
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Diet, Metabolism, and Disease
- Aquaculture Nutrition and Growth
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Pharmaceutical Economics and Policy
- Genetic factors in colorectal cancer
- Metabolomics and Mass Spectrometry Studies
- Reproductive biology and impacts on aquatic species
- Synthesis and biological activity
- Liver Disease Diagnosis and Treatment
Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas
2016-2025
Instituto de Salud Carlos III
2023-2025
INCLIVA Health Research Institute
2015-2025
Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition
2023
Ministero della Salute
2023
Menéndez Pelayo International University
2020
Hospital Clínico Universitario de Valencia
2005-2017
Universitat de València
2003-2017
Centre for Biomedical Network Research on Rare Diseases
2009
Sistemas Genómicos
2008
Oxidative stress may act as a contributing factor in the development of an elevated body mass index (BMI). has potential to modulate genetic activity at various levels, including gene transcription and protein function regulation. Nevertheless, interplay between variants oxidative relation BMI remains be elucidated. Based on this premise, we studied association 723 single-nucleotide polymorphisms (SNPs) located within set 212 genes both parameters 1502 adults from general Spanish population...
To assess the relationship of lipid profile to coronary heart disease in a group heterozygous familial hypercholesterolaemic subjects with similar age, sex, body mass index, prevalence angiotensin converting enzyme DD genotype and type low density lipoprotein receptor mutation.A total 66 molecularly defined subjects, 33 whom had disease, were studied. Clinical features, cardiovascular risk factors parameters compared both groups. Familial patients showed significantly lower values mean...
The aims of this study were to examine the presence mutations in low-density lipoprotein receptor gene among subjects clinically diagnosed with familial hypercholesterolemia and analyze whether molecular diagnosis helps predict response simvastatin treatment our population. Fifty-five probands 128 related studied. Genetic was carried out following a three-step protocol based on Southern blot PCR-single strand conformational polymorphism analysis. A randomized clinical trial conducted 42...
The low density lipoprotein (LDL) receptor plays a major role in maintaining human plasma cholesterol levels and mutations the gene cause familial hypercholesterolemia. LDL (LDLR) pathway has been well characterized, but little is known of proteins involved its complex intracellular sorting trafficking. Sorting nexin 17 (SNX17) recently implicated LDLR We show here that endogenous SNX17 highly expressed several cell types localized partially early endosomes. found PX domain required for...
Objectives: In order to select new drugs and predict their in vitro activity against Mycobacterium avium complex (MAC), quantitative structure–activity relationship (QSAR) models were developed.
Few data are available on circulating mononuclear cells nuclear factor-kappa B (NF-kB) activity and plasma xanthine oxidase (XO) in heterozygous familial hypercholesterolaemia (FH). The goal of the study was to analyse NF-kB XO activities FH patients.Thirty index patients 30 normoglycaemic normocholesterolaemic controls matched by age, gender, body mass index, abdominal circumference homeostasis model assessment were studied. Plasma inflammatory markers measured standard methods. assayed...
Limited studies have evaluated the joint influence of redox-related metals and genetic variation on metabolic pathways. We analyzed association 11 with patterns, interacting role candidate variants, in 1145 participants from Hortega Study, a population-based sample Spain.Urine antimony (Sb), arsenic, barium (Ba), cadmium (Cd), chromium (Cr), cobalt (Co), molybdenum (Mo) vanadium (V), plasma copper (Cu), selenium (Se) zinc (Zn) were measured by ICP-MS AAS, respectively. summarized 54...
Objectives Oxidative stress can modulate blood pressure levels in different models. Xanthine oxidoreductase is one of the enzymes producing free radicals cardiovascular system, and it contribute to increment oxidative and, consequently, pressure. We analyzed association between −337GA 565+64CT polymorphisms xanthine gene with levels. Methods These were studied a case–control study (185 patients hypertension 385 normotensive controls), we found that these related This was high showed an...
Context: Autosomal dominant hypercholesterolemia (ADH) is a genetic disorder characterized by increased low-density lipoprotein (LDL)-cholesterol levels, leading to high risk of premature cardiovascular disease. More than 900 mutations in LDL receptor, six APOB and 10 PCSK9 have been identified as cause the disease different populations. All known causing produce an increase enzymatic activity this protease. Up now, there are data about implication ADH low number populations, not including...
Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish patients up to now. To gain information this issue, we analysed group of 113 unrelated from an eastern area (Valencian Community). We screened the LDLR gene by Southern blot PCR-SSCP analysis detect large rearrangements small mutations, respectively. In addition, Apo B for mutations known cause FDB analysis. identified total 47 different (5 rearrangements, 42 which...
Aim: to investigate the association of C677T polymorphism in methylene tetrahydrofolate reductase (MTHFR) gene, homocysteine plasma values (Hcy), and HDL cholesterol heterozy-gous familial hypercholesterolemia (hFH).Methods: One hundred twenty-five hFH subjects were studied. Plasma lipid, lipoprotein, vitamin B12, folic acid Hcy determined. MTHFR gene was detected by SSCP-PCR. Genetic diagnosis FH determined a three-step protocol using SSCP-PCR, Southern blot, long PCR automatic...
Background: Osteoporosis and obesity are major public health problems that closely correlated, as they share various features, including a genetic predisposition. A correlation between osteoporosis due to the biological common pathways of bone fat metabolism, which implies pleiotropic genes regulating has been described. The objective our study was analyse whether polymorphisms in obesity-related modify risk osteoporotic fracture. Methods: We studied 575 subjects from Hortega Study. were...
Familial hypercholesterolaemia (FH) is an autosomal dominant disease characterized by elevated levels of low-density lipoprotein-cholesterol (LDL-C). Phenotypic expression highly variable, being influenced diet, age, gender, body mass index, apolipoprotein E genotype and type LDL-receptor gene mutation. Microsomal triglyceride (TG) transfer protein (MTP) a involved in lipid metabolism. Polymorphism MTP −493 GT has been shown to modulate several populations. To analyse the effect this...
Background Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low‐density lipoprotein receptor (LDLR) gene. To date, there has not been a systematic survey of frequency gross LDLR gene Spanish population. The objective our study was to investigate large rearrangements FH population and relation between kind rearrangement phenotype carrier families. Material methods screened detect major sample 89 probands. Southern blot, long polymerase chain...