Search results for "Variants"
showing 10 items of 227 documents
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
2013
Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…
Equivalence relations among homology 3-spheres and the Johnson filtration
2021
The Torelli group of a surface consists of isotopy classes of homeomorphisms of this surface acting trivially at the homological level. The structure of the Torelli group can be approached by the study and the comparison of two filtrations of this group: its lower central series, and the "Johnson" filtration, given by the kernels of the natural actions on the successive nilpotent quotients of the fundamental group of the surface. It is now known that there are, via the notion of "Heegaard splittings", rich interactions between this 2-dimensional study and the study of some 3-manifolds topological invariants: we refer here precisely to the so-called "finite-type" invariants. In this PhD, we …
Invariants of transverse foliations
2012
Abstract We construct two invariants for a pair of transverse one-dimensional foliations on the plane. If the set of separatrices is Hausdorff in the space of leaves, the invariant is a distinguished graph. In case there are a finite number of separatrices the invariant is an indexed link.
Recurrences of multidrug-resistant tuberculosis: Strains involved, within-host diversity, and fine-tuned allocation of reinfections
2020
34 páginas, 13 figuras
Examination of Escherichia coli from poultry for selected adhesin genes important in disease caused by mammalian pathogenic E. coli
2001
A collection of 1601 extraintestinal and intestinal Escherichia coli isolated from chickens, turkeys and ducks, in Belgium, France and Spain, was hybridised with gene probes specific for fimbrial and afimbrial adhesins (F17, F18, SSfa/F1C, Bfp, Afa, Cs31A, IntiminEae, Aida-1) of intestinal, urinary and invasive E. coli of mammals and with a probe specific for the P (Pap/Prs) fimbrial adhesin of urinary and invasive E. coli of mammals and birds. Three hundred and eighty-three strains (23.9%) were P-positive, 76 strains (4.8%) were Afa-positive, 75 strains (4.7%) were F17-positive, 67 strains (4.2%) were S-positive, 23 (1.4%) were Intimin-positive, and all were F18-, Cs31A-, Aida1- and Bfp-ne…
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations
2014
European Community Recent years have seen considerable progress in epidemiological and molecular genetic research into environmental and genetic factors in schizophrenia, but methodological uncertainties remain with regard to validating environmental exposures, and the population risk conferred by individual molecular genetic variants is small. There are now also a limited number of studies that have investigated molecular genetic candidate gene-environment interactions (G x E), however, so far, thorough replication of findings is rare and G x E research still faces several conceptual and methodological challenges. in this article, we aim to review these recent developments and illustrate h…
Spatial and temporal distribution of SARS-CoV-2 diversity circulating in wastewater
2022
Wastewater-based epidemiology (WBE) has proven to be an effective tool for epidemiological surveillance of SARS-CoV-2 during the current COVID-19 pandemic. Furthermore, combining WBE together with high-throughput sequencing techniques can be useful for the analysis of SARS-CoV-2 viral diversity present in a given sample. The present study focuses on the genomic analysis of SARS-CoV-2 in 76 sewage samples collected during the three epidemiological waves that occurred in Spain from 14 wastewater treatment plants distributed throughout the country. The results obtained demonstrate that the metagenomic analysis of SARS-CoV-2 in wastewater allows the detection of mutations that define the B.1.1.…
INTEGRATIVE APPROACH BETWEEN GENE VARIANTS, NEUROENDOCRINE EFFECTORS AND ANXIETY RESPONSE: A PILOT STUDY
2016
The aim of this study is to investigate the neurobiology of stress/emotionality, creating a multidisciplinary assessment model, which can help to provide psychological and physiological responses depending on the genetic background related to sport performances, social closeness and performance anxiety management in team sports. We enrolled 20 female volleyball players aged 13 ± 1 years old played in two different teams during a regional championship final. Saliva collection was carried out before and after the match. In order to evaluate the neuroendocrine effectors involved in stress and performance, we analyzed cortisol and progesterone levels through Elisa standard kit as well as HSP70 …
iGEMS : an integrated model for identification of alternative exon usage events
2016
DNA microarrays and RNAseq are complementary methods for studying RNA molecules. Current computational methods to determine alternative exon usage (AEU) using such data require impractical visual inspection and still yield high false-positive rates. Integrated Gene and Exon Model of Splicing (iGEMS) adapts a gene-level residuals model with a gene size adjusted false discovery rate and exon-level analysis to circumvent these limitations. iGEMS was applied to two new DNA microarray datasets, including the high coverage Human Transcriptome Arrays 2.0 and performance was validated using RT-qPCR. First, AEU was studied in adipocytes treated with (n = 9) or without (n = 8) the anti-diabetes drug,…
Compressed Drinfeld associators
2004
Drinfeld associator is a key tool in computing the Kontsevich integral of knots. A Drinfeld associator is a series in two non-commuting variables, satisfying highly complicated algebraic equations - hexagon and pentagon. The logarithm of a Drinfeld associator lives in the Lie algbera L generated by the symbols a,b,c modulo [a,b]=[b,c]=[c,a]. The main result is a description of compressed associators that satisfy the compressed pentagon and hexagon in the quotient L/[[L,L],[L,L]]. The key ingredient is an explicit form of Campbell-Baker-Hausdorff formula in the case when all commutators commute.