Three-body non-additive forces between spin-polarized alkali atoms

Three-body non-additive forces in systems of three spin-polarized alkali atoms (Li, Na, K, Rb and Cs) are investigated using high-level ab initio calculations. The non-additive forces are found to be large, especially near the equilateral equilibrium geometries. For Li, they increase the three-atom potential well depth by a factor of 4 and reduce the equilibrium interatomic distance by 0.9 A. The non-additive forces originate principally from chemical bonding arising from sp mixing effects.Comment: 4 pages, 3 figures (in 5 files

Circular orbits of corotating binary black holes: comparison between analytical and numerical results

We compare recent numerical results, obtained within a ``helical Killing vector'' (HKV) approach, on circular orbits of corotating binary black holes to the analytical predictions made by the effective one body (EOB) method (which has been recently extended to the case of spinning bodies). On the scale of the differences between the results obtained by different numerical methods, we find good agreement between numerical data and analytical predictions for several invariant functions describing the dynamical properties of circular orbits. This agreement is robust against the post-Newtonian accuracy used for the analytical estimates, as well as under choices of resummation method for the EOB ``effective potential'', and gets better as one uses a higher post-Newtonian accuracy. These findings open the way to a significant ``merging'' of analytical and numerical methods, i.e. to matching an EOB-based analytical description of the (early and late) inspiral, up to the beginning of the plunge, to a numerical description of the plunge and merger. We illustrate also the ``flexibility'' of the EOB approach, i.e. the possibility of determining some ``best fit'' values for the analytical parameters by comparison with numerical data.Comment: Minor revisions, accepted for publication in Phys. Rev. D, 19 pages, 6 figure

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders

Modeling Translation in Protein Synthesis with TASEP: A Tutorial and Recent Developments

The phenomenon of protein synthesis has been modeled in terms of totally asymmetric simple exclusion processes (TASEP) since 1968. In this article, we provide a tutorial of the biological and mathematical aspects of this approach. We also summarize several new results, concerned with limited resources in the cell and simple estimates for the current (protein production rate) of a TASEP with inhomogeneous hopping rates, reflecting the characteristics of real genes.Comment: 25 pages, 7 figure

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood appr

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk

Model-independent measurement of t\boldsymbol{t}-channel single top quark production in ppˉ\boldsymbol{p\bar{p}} collisions at s=1.96\boldsymbol{\sqrt{s}=1.96} TeV

We present a model-independent measurement of $t$-channel electroweak production of single top quarks in \ppbar collisions at $\sqrt{s}=1.96\;\rm TeV$. Using $5.4\;\rm fb^{-1}$ of integrated luminosity collected by the D0 detector at the Fermilab Tevatron Collider, and selecting events containing an isolated electron or muon, missing transverse energy and one or two jets originating from the fragmentation of $b$ quarks, we measure a cross section \sigma({\ppbar}{\rargap}tqb+X) = 2.90 \pm 0.59\;\rm (stat+syst)\; pb for a top quark mass of $172.5\;\rm GeV$. The probability of the background to fluctuate and produce a signal as large as the one observed is $1.6\times10^{-8}$, corresponding to a significance of 5.5 standard deviations.Comment: 8 pages, 4 figures, submitted to Phys. Lett.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat