Search results for "Plot"
showing 10 items of 830 documents
Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
2010
Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carrie…
Observation of the rare decayB+→K+π0π0and measurement of the quasi-two-body contributionsB+→K*(892)+π0,B+→f0(980)K+, andB+→χc0K+
2011
We report an analysis of charmless hadronic decays of charged B mesons to the final state K{sup +}{pi}{sup 0}{pi}{sup 0}, using a data sample of (470.9 {+-} 2.8) x 10{sup 6} B{bar B} events collected with the BABAR detector at the {Gamma}(4S) resonance. We observe an excess of signal events, with a significance above 10 standard deviations including systematic uncertainties, and measure the branching fraction and CP asymmetry to be {Beta}(B{sup +} {yields} K{sup +}{pi}{sup 0}{pi}{sup 0}) = (16.2 {+-} 1.2 {+-} 1.5) x 10{sup -6} and A{sub CP}(B{sup +} {yields} K{sup +}{pi}{sup 0}{pi}{sup 0}) = -0.06 {+-} 0.06 {+-} 0.04, where the uncertainties are statistical and systematic, respectively. Add…
PrP Gene Polymorphism in Medieval Remains of Sicilian Sheep
2015
Encephalopathy in sheep was at first described in Ireland in 1732 and was called scrapie. Ancient DNA in archaeogenetics represents an effective method to evaluate the ancestral pedigree of living animals and track evolutionary changes occurred between the past and the present day. Since several point mutations are today widely described in modern scrapie, no data about both sequence and frequency are still available for the prion protein (PrP) gene in ancient breeds. In order to evaluate whether the haplotypes distribution in ancient sheep differed from those of the modern population we evaluated polymorphism at four well know codons of the Prp Open Reading Frame. In the present work, we c…
Testing experimental designs in liquid chromatography (II): Influence of the design geometry on the prediction performance of retention models.
2021
Abstract In liquid chromatography, the reliability of predictions carried out with retention models depends critically on the quality of the training experimental design. The search of the best design is more complex when gradient runs are used instead of isocratic experiments. In Part I of this work (JCA 1624 (2020) 461180), a general methodology based on the error propagation theory was developed and validated for assessing the quality of training designs involving gradients. The treatment relates the mathematical properties of a retention model with the geometry of the training designs and their subsequent predictions. In that work, only five usual designs were considered. Part II invest…
Three-body final state interaction in η→ 3π updated
2017
In view of the recent high-statistic KLOE data for the η→π+π−π0 decay, a new determination of the quark mass double ratio has been done. Our approach relies on a dispersive model that takes into account rescattering effects between three pions via subenergy unitarity. The latter is essential to reproduce the Dalitz plot distribution. A simultaneous description of the KLOE and WASA-at-COSY data is achieved in terms of just two real parameters. From a global fit, we determine Q=21.6±1.1. The predicted slope parameter for the neutral channel α=−0.025±0.004 is in reasonable agreement with the PDG average value.
Range Shifts of Mouse Lemurs in South-Eastern Madagascar: Evidence from Mitochondrial Genetic Data
2012
The gray mouse lemur, Microcebus murinus, occurs mainly in dry forests in western Madagascar, but its distribution extends into humid littoral forests in the south-eastern Anosy Region. We sequenced the mitochondrial hypervariable region 1 for 282 M. murinus individuals from 13 south-eastern study sites. The spatial distribution of mitochondrial haplotypes and the varying genetic distances within two haplotype clades indicated a trend of decreasing genetic diversity towards the south-eastern margin of the range. Rufous mouse lemurs, Microcebus cf. rufus, have a complementary distribution in south-eastern Madagascar which does not overlap with that of M. murinus. Taken together, the spatial …
The origin of Swedish and Norwegian populations of the Eurasian harvest mouse (Micromys minutus).
2012
The harvest mouse (Micromys minutus) occurs throughout most of continental Europe. There are also two isolated and recently discovered populations on the Scandinavian peninsula, in Sweden and Norway. Here, we investigate the origin of these populations through analyses of mitochondrial DNA. We found that the two populations on the Scandinavian peninsula have different mtDNA haplotypes. A comparison of our haplotypes to published sequences from most of Europe showed that all Swedish and Norwegian haplotypes are most closely related to the haplotypes in harvest mice from Denmark. Hence, the two populations seem to represent independent colonisations but originate from the same geographical ar…
Genetic variability ofTriatoma rubrovaria(Reduviidae: Triatominae) from Brazil, Argentina and Uruguay as revealed by two different molecular markers
2007
Randomly amplified polymorphic DNA (RAPD) and nuclear ribosomal DNA sequence analyses were used to assess the genetic population structure of the South American triatomine species Triatomo rubrovario throughout its geographical distribution. To investigate the genetic variability at both intraspecific and intrapopulational levels the RAPD profiles and the nucleotide sequences of the rDNA intergenic spacers, ITS-1 and ITS-2, were analysed and compared. The phenetic analysis based on RAPD profiles show three distinct clusters diverging by similarity coefficients ranging from 0.62 to 0.96. The ITS-1 and ITS-2 sequence variability detected may be considered very high, suggesting reproductive is…
An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.
2011
This paper addresses a tenet of the literature on APOE, i.e., the relationship between the effects of the e4, one of the established genetic risk factor for Alzheimer's disease (AD), and its expression levels as determined by APOE promoter polymorphisms. Five polymorphisms (-491 rs449647, -427 rs769446, -219 rs405509, and e rs429358-rs7412) were studied in 1308 AD patients and 1082 control individuals from the Central-Northern Italy. Major findings of the present study are the following: 1) the variants -219T and e4 increase the risk for late onset AD (LOAD) when they are both present in cis on the same chromosome (in phase); 2) the correlation between the haplotype (-219T/e4) and AD risk p…
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
2010
PURPOSE. The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH. METHODS. DNA from 183 patients with Usher syndrome from the Spanish population was analyzed using a genotyping microarray containing 429 previously identified disease-associated variants in eight USH genes. Mutations detected by the array were confirmed by direct sequencing. Haplotype analysis was also performed in families carrying common Spanish mutations. RESULTS. The genotyping microarray identified 43 different variants, divided into 32 disease causative and 11 probably non-pathologic…