125 research outputs found
Equatorial circular orbits in the Kerr-de Sitter spacetimes
Equatorial motion of test particles in the Kerr-de Sitter spacetimes is
considered. Circular orbits are determined, their properties are discussed for
both the black-hole and naked-singularity spacetimes, and their relevance for
thin accretion discs is established.Comment: 24 pages, 19 figures, REVTeX
Tomato: a crop species amenable to improvement by cellular and molecular methods
Tomato is a crop plant with a relatively small DNA content per haploid genome and a well developed genetics. Plant regeneration from explants and protoplasts is feasable which led to the development of efficient transformation procedures.
In view of the current data, the isolation of useful mutants at the cellular level probably will be of limited value in the genetic improvement of tomato. Protoplast fusion may lead to novel combinations of organelle and nuclear DNA (cybrids), whereas this technique also provides a means of introducing genetic information from alien species into tomato. Important developments have come from molecular approaches. Following the construction of an RFLP map, these RFLP markers can be used in tomato to tag quantitative traits bred in from related species. Both RFLP's and transposons are in the process of being used to clone desired genes for which no gene products are known. Cloned genes can be introduced and potentially improve specific properties of tomato especially those controlled by single genes. Recent results suggest that, in principle, phenotypic mutants can be created for cloned and characterized genes and will prove their value in further improving the cultivated tomato.
An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics
For a decade, The Cancer Genome Atlas (TCGA) program collected clinicopathologic annotation data along with multi-platform molecular profiles of more than 11,000 human tumors across 33 different cancer types. TCGA clinical data contain key features representing the democratized nature of the data collection process. To ensure proper use of this large clinical dataset associated with genomic features, we developed a standardized dataset named the TCGA Pan-Cancer Clinical Data Resource (TCGA-CDR), which includes four major clinical outcome endpoints. In addition to detailing major challenges and statistical limitations encountered during the effort of integrating the acquired clinical data, we present a summary that includes endpoint usage recommendations for each cancer type. These TCGA-CDR findings appear to be consistent with cancer genomics studies independent of the TCGA effort and provide opportunities for investigating cancer biology using clinical correlates at an unprecedented scale. Analysis of clinicopathologic annotations for over 11,000 cancer patients in the TCGA program leads to the generation of TCGA Clinical Data Resource, which provides recommendations of clinical outcome endpoint usage for 33 cancer types
Strain-mediated converse magnetoelectric coupling strength manipulation by a thin titanium layer
The manipulation of the strain-mediated magnetoelectric (ME) coupling strength is investigated by inserting a thin Ti layer (0-10 nm) between a 50 nm Co50Fe50 layer and a (011) oriented lead magnesium niobate-lead titanate (PMN-PT) substrate. A record high remanence ratio (Mr/Ms) tunability of 100% has been demonstrated in the 50 nm CoFe/8 nm Ti/PMN-PT heterostructure, when a total in-plane piezoelectric strain of -1821 ppm was applied at an electric field (E-field) of 16 kV/cm. The ME coupling strength is gradually optimized as the Ti layer thickness increases. Magnetic energy calculation showed that with increasing Ti layer thickness the uniaxial magnetic anisotropy energy (Euni) was reduced from 43 ± 1 kJ/m3 to 29.8 ± 1 kJ/m3. The reduction of Euni makes the strain effect dominant in the total magnetic energy, thus gives an obvious enhanced ME coupling strength
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons—Leu844, Cys845, Ala846, Leu847, and Gly848—located in the cysteine-serine-rich domain (CSRD). Collectively, these recurrent missense mutations affect ∼0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB) cohort. Major superficial plexiform neurofibromas and symptomatic spinal neurofibromas were more prevalent in these individuals compared with classic NF1-affected cohorts (both p < 0.0001). Nearly half of the individuals had symptomatic or asymptomatic optic pathway gliomas and/or skeletal abnormalities. Additionally, variants in this region seem to confer a high predisposition to develop malignancies compared with the general NF1-affected population (p = 0.0061). Our results demonstrate that these NF1 missense mutations, although located outside the GAP-related domain, may be an important risk factor for a severe presentation. A genotype-phenotype correlation at the NF1 region 844–848 exists and will be valuable in the management and genetic counseling of a significant number of individuals
Early mortality among Aboriginal and non-Aboriginal women who had a preterm birth in Western Australia: A population-based cohort study
Background: Having a preterm (<37 weeks' gestation) birth may increase a woman's risk of early mortality. Aboriginal and Torres Strait Islander (hereafter Aboriginal) women have higher preterm birth and mortality rates compared with other Australian women. Objectives: We investigated whether a history of having a preterm birth was associated with early mortality in women and whether these associations differed by Aboriginal status. Methods: This retrospective cohort study used population-based perinatal records of women who had a singleton birth between 1980 and 2015 in Western Australia linked to Death Registry data until June 2018. The primary and secondary outcomes were all-cause and cause-specific mortality respectively. After stratification by Aboriginal status, rate differences were calculated, and Cox proportional hazard regression was used to estimate adjusted hazard ratios (HR) and 95% confidence intervals (CI) for allcause and cause-specific mortality. Results: There were 20,244 Aboriginal mothers (1349 deaths) and 457,357 nonAboriginal mothers (7646 deaths) with 8.6 million person-years of follow-up. The all-cause mortality rates for Aboriginal mothers who had preterm births and term births were 529.5 and 344.0 (rate difference 185.5, 95% CI 135.5, 238.5) per 100,000 person-years respectively. Among non-Aboriginal mothers, the corresponding figures were 125.5 and 88.6 (rate difference 37.0, 95% CI 29.4, 44.9) per 100,000 personyears. The HR for all-cause mortality for Aboriginal and non-Aboriginal mothers associated with preterm birth were 1.48 (95% CI 1.32, 1.66) and 1.35 (95% CI 1.26, 1.44), respectively, compared with term birth. Compared with mothers who had term births, mothers of preterm births had higher relative risks of mortality from diabetes, cardiovascular, digestive and external causes. Conclusions: Both Aboriginal and non-Aboriginal women who had a preterm birth had a moderately increased risk of mortality up to 38 years after the birth, reinforcing the importance of primary prevention and ongoing screening.Helen D. Bailey, Caitlin Gray, Akilew A. Adane, Natalie A. Strobel, Scott W. White, Rhonda Marriott, Gizachew A. Tessema, Carrington C. J. Shepherd, Mary Shar
The XMM-Newton serendipitous survey. IV. Optical identification of the XMM-Newton medium sensitivity survey (XMS)
Aims.X-ray sources at intermediate fluxes (a few 10-14 erg cm-2 s-1) with a sky density of ~100 deg-2 are responsible for a significant fraction of the cosmic X-ray background at various energies below 10 keV. The aim of this paper is to provide an unbiased and quantitative description of the X-ray source population at these fluxes and in various X-ray energy bands. Methods.We present the XMM-Newton Medium sensitivity Survey (XMS), including a total of 318 X-ray sources found among the serendipitous content of 25 XMM-Newton target fields. The XMS comprises four largely overlapping source samples selected at soft (0.5-2 keV), intermediate (0.5-4.5 keV), hard (2-10 keV) and ultra-hard (4.5-7.5 keV) bands, the first three of them being flux-limited. Results.We report on the optical identification of the XMS samples, complete to 85-95%. At the flux levels sampled by the XMS we find that the X-ray sky is largely dominated by Active Galactic Nuclei. The fraction of stars in soft X-ray selected samples is below 10%, and only a few per cent for hard selected samples. We find that the fraction of optically obscured objects in the AGN population stays constant at around 15-20% for soft and intermediate band selected X-ray sources, over 2 decades of flux. The fraction of obscured objects amongst the AGN population is larger (~35-45%) in the hard or ultra-hard selected samples, and constant across a similarly wide flux range. The distribution in X-ray-to-optical flux ratio is a strong function of the selection band, with a larger fraction of sources with high values in hard selected samples. Sources with X-ray-to-optical flux ratios in excess of 10 are dominated by obscured AGN, but with a significant contribution from unobscured AGN
Driver Fusions and Their Implications in the Development and Treatment of Human Cancers.
Gene fusions represent an important class of somatic alterations in cancer. We systematically investigated fusions in 9,624 tumors across 33 cancer types using multiple fusion calling tools. We identified a total of 25,664 fusions, with a 63% validation rate. Integration of gene expression, copy number, and fusion annotation data revealed that fusions involving oncogenes tend to exhibit increased expression, whereas fusions involving tumor suppressors have the opposite effect. For fusions involving kinases, we found 1,275 with an intact kinase domain, the proportion of which varied significantly across cancer types. Our study suggests that fusions drive the development of 16.5% of cancer cases and function as the sole driver in more than 1% of them. Finally, we identified druggable fusions involving genes such as TMPRSS2, RET, FGFR3, ALK, and ESR1 in 6.0% of cases, and we predicted immunogenic peptides, suggesting that fusions may provide leads for targeted drug and immune therapy
Statistical strategies for avoiding false discoveries in metabolomics and related experiments
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