A5005417345- Chromosomal and Genetic Variations
- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Glycogen Storage Diseases and Myoclonus
- RNA and protein synthesis mechanisms
- Bacteriophages and microbial interactions
- Neurofibromatosis and Schwannoma Cases
- Epigenetics and DNA Methylation
- Adipose Tissue and Metabolism
- RNA modifications and cancer
- Bone Metabolism and Diseases
- Meningioma and schwannoma management
- Bone health and osteoporosis research
- Tryptophan and brain disorders
- Diabetes Treatment and Management
- Asthma and respiratory diseases
- Parkinson's Disease Mechanisms and Treatments
- Genomic variations and chromosomal abnormalities
- Chronic Obstructive Pulmonary Disease (COPD) Research
- CRISPR and Genetic Engineering
- Dark Matter and Cosmic Phenomena
- Genomics and Chromatin Dynamics
- Bioinformatics and Genomic Networks
- Echinoderm biology and ecology
Universidad de Cantabria
2011-2025
Instituto de Biomedicina y Biotecnología de Cantabria
2011-2021
Consejo Superior de Investigaciones Científicas
1992-2021
Servicio Cántabro de Salud
2019-2020
Marqués de Valdecilla University Hospital
2015
Instituto de Investigación Marqués de Valdecilla
2015
Centro de Investigación Biomédica en Red de Salud Mental
2015
University of California, Los Angeles
1993-2012
deCODE Genetics (Iceland)
2002-2006
Hospital General Universitario Gregorio Marañón
2004
Bone mass is under strong genetic control, and recent studies in adults have suggested that allelic differences the gene for vitamin D receptor may account inherited variability bone mass. We studied relations of D–receptor genotype to skeletal development variation size, volume, density children.
Abstract Eight regions of the genome ( PARK1‐8 ) have been implicated in autosomal dominant and recessive forms early‐onset Parkinson's disease. These constitute a few all cases. However, except for haplotype six families PARK3 ), no study has successfully mapped gene or described mutations that contribute to common late‐onset Some even suggested genetic component does not exist. We cross‐matched our nationwide genealogy database with population‐based list Icelandic disease patients search...
To determine genome-wide methylation profiles of bone from patients with hip osteoarthritis (OA) and those osteoporotic (OP) fractures.Trabecular pieces were obtained the central part femoral head 27 fractures 26 OA. DNA was isolated, explored Illumina arrays. RNA extracted, pooled, deep-sequenced to obtain whole transcriptome. Differentially methylated regions identified, connections between genes differentially by pathway text-mining analyses.After quality control, 23,367 CpG sites (13,463...
Journal Article Mutations of the neurofibromatosis type 2 gene and lack product in vestibular schwannomas Get access Jesús Sainz, Sainz Neurogenetics Laboratory Division Neurology, Cedars-Sinai Medical Center, University Californiaat Los Angeles 8700 Beverly Boulevard, Angeles, CA 90048, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Duong P. Huynh, Huynh Karla Figueroa, Figueroa Nikola K. Ragge, Ragge Michael E. Baser, Baser Stefan-Matthias Pulst * *To...
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTSatellite DNAs contain sequences that induce curvatureA. Martinez-Balbas, A. Rodriguez-Campos, M. Garcia-Ramirez, J. Sainz, P. Carrera, Aymami, and F. AzorinCite this: Biochemistry 1990, 29, 9, 2342–2348Publication Date (Print):March 6, 1990Publication History Published online1 May 2002Published inissue 6 March 1990https://pubs.acs.org/doi/10.1021/bi00461a019https://doi.org/10.1021/bi00461a019research-articleACS PublicationsRequest reuse...
Despite the widespread use of antipsychotics, little is known molecular bases behind action antipsychotic drugs. A genome-wide study needed to characterize genes that affect clinical response and their adverse effects. Here we show analysis blood transcriptome 22 schizophrenia patients before after medication with atypical antipsychotics by next-generation sequencing. We found 17 genes, among 21 495 analyzed, have significantly-altered expression (p-value adjusted [Padj] <0.05). Six...
Background: Antipsychotics modulate expression of inflammatory cytokines and inducible enzymes. Elopiprazole (a phenylpiperazine antipsychotic drug in phase 1) has been characterized as a therapeutic to treat SARS-CoV-2 infection repurposing study. We aim investigate the potential effects aripiprazole (an FDA approved phenylpiperazine) on COVID-19-related immunological parameters. Methods: Differential gene profiles non-COVID-19 vs. COVID-19 RNA-Seq samples (CRA002390 project GSA database)...