A5031980227- Congenital heart defects research
- Cardiac Valve Diseases and Treatments
- Congenital Heart Disease Studies
- Acute Myeloid Leukemia Research
- Cancer-related gene regulation
- Coronary Artery Anomalies
- Prostate Cancer Treatment and Research
- Epigenetics and DNA Methylation
- Developmental Biology and Gene Regulation
- Angiogenesis and VEGF in Cancer
- Chronic Lymphocytic Leukemia Research
- Genetic factors in colorectal cancer
- Nerve injury and regeneration
- 14-3-3 protein interactions
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Protein Degradation and Inhibitors
- Axon Guidance and Neuronal Signaling
- Vascular anomalies and interventions
- Signaling Pathways in Disease
- Genomics and Chromatin Dynamics
- Tryptophan and brain disorders
Spanish National Centre for Cardiovascular Research
2013-2024
Instituto de Salud Carlos III
2002-2024
Weatherford College
2024
Centro de Investigación en Red en Enfermedades Cardiovasculares
2019-2023
Centro de Investigación Biomédica en Red
2018
Universidad Autónoma de Madrid
2016
Albert Einstein College of Medicine
2016
Max Planck Institute for Molecular Biomedicine
2015
Hospital General Universitario Gregorio Marañón
2011
Universidad de Málaga
2011
Abnormalities of the arterial valve leaflets, predominantly bicuspid aortic valve, are commonest congenital malformations. Although many studies have investigated development valves, it has been assumed that, as with atrioventricular endocardial to mesenchymal transition (EndMT) is predominant mechanism. We show that distinctly different from formation. Whilst four septal leaflets dominated by NCC and EndMT-derived cells, intercalated differentiate directly Tnnt2-Cre+/Isl1+ progenitors in...
Nicotinamide adenine dinucleotide (NAD)+-dependent sirtuins have been identified to be key regulators in the lifespan extending effects of calorie restriction (CR) a number species. In this study we report for first time that promotion NAD+-dependent sirtuin, SIRT1-mediated deacetylase activity, may mechanism by which CR influences Alzheimer disease (AD)-type amyloid neuropathology. Most importantly, predicted attenuation ofβ-amyloid content brain during can reproduced mouse neurons vitro...
Abstract Background The cause of neuronal death in amyotrophic lateral sclerosis (ALS) is uncertain but mitochondrial dysfunction may play an important role. Ketones promote energy production and membrane stabilization. Results SOD1-G93A transgenic ALS mice were fed a ketogenic diet (KD) based on known formulations for humans. Motor performance, longevity, motor neuron counts measured treated disease controls. Because plays central role cell ALS, we also studied the effect that principal...
Abstract 1,25‐dihydroxyvitamin D 3 (1,25‐(OH) 2 ), a metabolically active form of vitamin D, is shown to increase in dose‐dependent manner the cellular pool NGF mRNA murine L‐929 fibroblasts cultured serum‐free medium. This effect can be detected as early hours after 1,25‐(OH) addition and persists for at least 28 hours. It accompanied by an enhancement amount NGF‐protein secreted culture Since proto‐oncogene c‐fos appears involved regulation gene (Mocchetti et al.: Proceedings National...
Abstract Due to problems with primary tumor cell culture, conventional cytogenetics has yielded little insightful information on chromosomal alterations in prostate cancer. The aim of this study was define the ability comparative genomic hybridization (CGH) detect and map genetic deletions tumors. A secondary apply multiple assays individual tumors as a means deciphering mechanisms CGH results were compared allelic imbalance measurements at 29 distinct loci chromosome 8 18 specimens (17...
A previous study of 18 primary or metastatic prostate cancers showed loss genetic markers on chromosome 8; 10, 16 in more than 50% cases [Bergerheim USR et al. (1991) Genes Chromosom Cancer 3:215-220]. The small size and infiltrative nature prostatic tumors have hindered efforts to assess allelic losses by traditional restriction fragment length polymorphism (RFLP)/Southern blotting methods. To improve the sensitivity specificity this analysis early cancer, we amplified polymorphic...
The proepicardium is a transient structure comprising epicardial progenitor cells located at the posterior limit of embryonic cardiac inflow. A network signals regulates proepicardial cell fate and defines myocardial nonmyocardial domains venous pole heart. During development, epicardial-derived also contribute to coronary vessel morphogenesis.To study Notch function during development formation in mouse.Using situ hybridization, RT-PCR, immunohistochemistry, we find that pathway elements...
The Notch signaling pathway is crucial for primitive cardiac valve formation by epithelial-mesenchymal transition, and NOTCH1 mutations cause bicuspid aortic valve; however, the temporal requirement various ligands receptors during ontogeny poorly understood.The aim of this study to determine functional specificity in development.Using cardiac-specific conditional targeted mutant mice, we find that endothelial/endocardial deletion Mib1-Dll4-Notch1 signaling, possibly favored Manic-Fringe,...
Calcific aortic valve disease is similar to atherosclerosis in that both diseases result from chronic inflammation and endothelial dysfunction. Heterozygous NOTCH1 mutations have been associated calcific a bicuspid valve. We investigated whether mice with genetic inactivation of the Notch signaling pathway are prone develop when exposed predisposing diet.Using Doppler echocardiography, histology, immunohistochemistry, quantitative gene expression analysis, cell culture assays, we examined...
Cardiac ventricles provide the contractile force of beating heart throughout life. How primitive endocardium-layered myocardial projections called trabeculae form and mature into adult is great interest for biology regenerative medicine. Trabeculation dependent on signaling protein Nrg1 (neuregulin-1). However, mechanism action its role in ventricular wall maturation are poorly understood.
Importance Nonsyndromic bicuspid aortic valve (nsBAV) is the most common congenital heart malformation. BAV has a heritable component, yet only few causative genes have been identified; understanding genetics key point in developing personalized medicine. Objective To identify new gene for nsBAV. Design, Setting, and Participants This was comprehensive, multicenter, genetic association study based on candidate prioritization familial cohort followed by rare studies replication cohorts....
The structure and expression pattern of a human gene located within homozygously deleted region metastatic prostate cancer have been characterized. Multiple cDNA fragments this were isolated by hybrid capture with yeast artificial chromosome clones covering the deletion region. Eleven coding exons spanned 205–220 kb 730- to 970-kb deletion. predicted amino acid sequence was 43% identical that an anonymousCaenorhabditis elegansgene 20% accessory or regulatory subunit oligosaccharyltransferase...
Abstract: Nerve growth factor (NGF) mRNAs were detected and quantified in a variety of normal neoplastic human tissues by northern blot hybridization. Human heart contained the highest NGF mRNA levels, whereas lower but comparable levels found placenta, prostate, kidney. All examined coexpressed low‐affinity receptor (LNGFR), none these expressed high‐affinity encoded trk protooncogene. The widespread distribution LNGFR suggests that it plays role regulation cell growth. No overexpression or...
Numerous studies have implicated the short arm of chromosome 8 as site one or more tumor suppressor genes inactivated in carcinogenesis prostate, colon, lung, and liver. Previously, we identified a homozygous deletion on 8p22 metastatic prostate cancer. To map this physically, long-range restriction mapping was performed using yeast artificial chromosomes (YACs) spanning approximately 2 Mb band 8p22. Subcloned genomic DNA cDNA probes isolated by hybrid capture from these YACs were mapped...
H-L(3)MBT, the human homolog of theDrosophila lethal(3)malignant brain tumor protein, is a member polycomb group (PcG) proteins, which function as transcriptional regulators in large protein complexes. Homozygous mutations l(3)mbt gene cause tumors inDrosophila, identifying suppressor gene. The h-l(3)mbt maps to chromosome 20q12, within common deleted region associated with myeloid hematopoietic malignancies. H-L(3)MBT contains three repeats 100 residues called MBT repeats, whose unknown,...
To determine the role of NOTCH during arterial injury response and subsequent chronic arterial-wall inflammation underlying atherosclerosis.We have generated a mouse model endothelial-specific (Cdh5-driven) depletion Notch effector recombination signal binding protein for immunoglobulin kappa J region (RBPJ) [(ApoE-/-); homozygous RBPJk conditional mice (RBPJflox/flox); Cadherin 5-CreERT, tamoxifen inducible driver (Cdh5-CreERT)]. Endothelial-specific deletion RBPJ or systemic Notch1 in...