A5012350369- Estrogen and related hormone effects
- Liver Disease Diagnosis and Treatment
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive Biology and Fertility
- Genetic Associations and Epidemiology
- RNA regulation and disease
- Alzheimer's disease research and treatments
- Genomic variations and chromosomal abnormalities
- Endoplasmic Reticulum Stress and Disease
- Sperm and Testicular Function
- Sexual Differentiation and Disorders
- Liver Disease and Transplantation
- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Machine Learning in Bioinformatics
- RNA Interference and Gene Delivery
- Genetic factors in colorectal cancer
- Enzyme Structure and Function
- Molecular Biology Techniques and Applications
- Genetics and Neurodevelopmental Disorders
- Glutathione Transferases and Polymorphisms
- Calpain Protease Function and Regulation
- Genetic Mapping and Diversity in Plants and Animals
- Phagocytosis and Immune Regulation
- Menopause: Health Impacts and Treatments
Children's Hospital of Philadelphia
2024
Hospital Quirónsalud Sagrado Corazón
2009
Centro de Investigaciones Científicas Isla de la Cartuja
2007-2009
Hospital Universitario Puerta del Mar
2009
Hvidovre Hospital
2009
University of Copenhagen
2009
Hospital Universitario Virgen del Rocío
2000-2002
In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population.We genotyped 1,128 individuals using Affymetrix Nsp I 250K chip. A sample of 327 sporadic AD patients and 801 controls unknown cognitive status from general population were included our initial study. To increase power study, combined results those four other public GWAS datasets by applying identical quality control filters same imputation...
Abstract Background The difficulty in elucidating the genetic basis of complex diseases roots many factors that can affect development a disease. Some these effects may interact ways, proving undetectable by current single-locus methodology. Results We have developed an analysis tool called Hypothesis Free Clinical Cloning (HFCC) to search for genome-wide epistasis case-control design. HFCC combines relatively fast computing algorithm detection, with flexibility test variety different...
Abstract Background Genetic admixture is a common caveat for genetic association analysis. Therefore, it important to characterize the structure of population under study control this kind potential bias. Results In we have sampled over 800 unrelated individuals from Spain, and genotyped them with genome-wide coverage. We carried out linkage disequilibrium, haplotype, copy-number variation (CNV) analyses, compared these estimates Spanish existing data similar efforts. Conclusions general,...
BACE1 is a key enzyme involved in the production of amyloid ß-peptide (Aß) Alzheimer's disease (AD) brains. Normally, its expression constitutively inhibited due to presence 5′untranslated region (5′UTR) promoter. activated by phosphorylation eukaryotic initiation factor (eIF)2-alpha, which reverses inhibitory effect exerted 5′UTR. There are four kinases associated with different types stress that could phosphorylate eIF2-alpha. Here we focus on double-stranded (ds) RNA-activated protein...
Abstract Recently, several research groups have evaluated CAPN10 gene in polycystic ovarian syndrome (PCOS) patients and other phenotypes, including hirsutism or intermediate phenotypes of PCOS. Molecular genetic analysis indicates that different alleles may play a role PCOS susceptibility could be associated with idiopathic hirsutism. However, these observations are not exempt from controversy, because independent studies cannot replicate preliminary findings. We present haplotype-phenotype...
BACKGROUND: A specific haplotype (AGATA) in the estrogen receptor alpha (ER1) gene was recently described as a new risk factor for cryptorchidism Japanese population. In this ethnic group, single-nucleotide polymorphism 12 (SNP12) concluded to be tag SNP AGATA haplotype. MATERIALS AND METHODS: large group of patients (total number = 335) and controls 567) two Caucasian populations were analysed SNP12 verify whether genetic variant its associated with or severe spermatogenic failure. RESULTS:...
CALHM1 gene coding non-synonymous SNP P86L (rs2986017) was reported to increase the risk of Alzheimer's disease (AD) in a recent study. We have investigated this genetic variant 2470 individuals from Spain conduct an independent replication stu
BACKGROUND: There is much evidence involving the KIT tyrosine kinase receptor and its ligand KITLG in survival proliferation of germ cells. Animal models functional studies humans suggest that this signalling pathway plays a role male infertility. METHODS: We studied three two single-nucleotide polymorphisms (SNPs) (rs3819392, rs3134885, rs2237012, rs10506957 rs995030) located within genomic region genes, respectively. A total 167 idiopathic infertile men (sperm counts <5 million spz/ml) 465...
BACKGROUND: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The aim the present study was to investigate role CALPAIN-5 (CAPN5) gene PCOS susceptibility. METHODS: We analysed four intronic polymorphisms CAPN5 148 well-characterized with and 606 unrelated controls. performed case-control an intracohort analysis clinical characteristics associated PCOS. RESULTS: Analysis haplotypes distribution between population compared controls showed strong...
Endometriosis is a complex disease affecting 10-15% of women at reproductive age. Very few genes are known to be altered in this pathology. RIP140 protein an important cofactor oestrogen receptor and many other nuclear receptors. Targeting disruption experiments nrip1 gene mice have demonstrated that interacting 1 (nrip1), the encoding for rip140 protein, essential female fertility. Specifically, null viable, but females infertile because complete failure mature follicles release oocytes...
The age at natural menopause shows great variability. It has been proposed that early is a risk factor for osteoporosis and cardiovascular disease, whereas later breast cancer. In addition, it thought the genetic factors accounting variability in could also play role those diseases, as well infertility women. this minireview we comment on latest genetics genomics insights into menopause.
The application of pharmacogenetics and pharmacogenomics to assisted reproductive techniques will help clinicians improve the efficacy hormone treatments that are being routinely applied during technique protocols. Genetic markers involving controlled ovarian hyperstimulation isolated within follicle-stimulating estrogen receptor signaling pathways using candidate gene approach. Furthermore, information obtained studies could be other estrogen-related diseases, such as osteoporosis, breast...