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Top 100 relevant results, sorted by most influential
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
- J. Lambert, C. Ibrahim-Verbaas, +179 authors P. Amouyel
- Biology, Medicine
- Nature Genetics
- 1 December 2013
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We… Expand
The therapeutic potential of the calpain family: new aspects.
The calpain family is a group of cysteine proteases unique in their dependency on calcium to attain functionally active forms. Calpains are involved in a wide range of cellular calcium-regulated… Expand
Human controlled ovarian hyperstimulation outcome is a polygenic trait.
This study aimed to evaluate the association between follicle-stimulating hormone (FSH) hormone efficacy and FSHR, CYP19, ESR1 and ESR2 genes using single nucleotide polymorphism analyses. One… Expand
Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS)
Objective Controlled ovarian stimulation (COS) using recombinant follicle-stimulating hormone (rFSH) is the main treatment in assisted reproduction. We performed a pharmacogenetic analysis of bone… Expand
A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis
BackgroundThe difficulty in elucidating the genetic basis of complex diseases roots in the many factors that can affect the development of a disease. Some of these genetic effects may interact in… Expand
The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease
BackgroundIn order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population.MethodsWe genotyped 1,128 individuals… Expand
Cellular mechanisms of the development of gastric mucosal damage and of gastrocytoprotection induced by prostacyclin in rats. A pharmacological study.
Abstract The rat gastric mucosal damage (lesion) can be produced by the topical application of 96% ethanol and its development can be prevented by the administration of prostacyclin (PGI2) in doses… Expand
CALHM1 P86L polymorphism is associated with late-onset Alzheimer's disease in a recessive model.
- M. Boada, C. Antunez, +12 authors A. Ruíz
- Medicine, Psychology
- Journal of Alzheimer's disease : JAD
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 in 2470 individuals… Expand
Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology.
OBJECTIVE To examine whether polymorphisms within the ESR1, FSHR, ESR2, CYP19A1, and NRIP1 genes are susceptibility factors for human male idiopathic infertility and to test the joint effects of… Expand
Investigation of c9orf72 in 4 neurodegenerative disorders.
OBJECTIVE To estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), Alzheimer disease (AD), and Parkinson disease… Expand