De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/136530/1/cge12854_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/136530/2/cge12854.pd

Deep Inelastic Scattering from off-Shell Nucleons

We derive the general structure of the hadronic tensor required to describe deep-inelastic scattering from an off-shell nucleon within a covariant formalism. Of the large number of possible off-shell structure functions we find that only three contribute in the Bjorken limit. In our approach the usual ambiguities encountered when discussing problems related to off-shellness in deep-inelastic scattering are not present. The formulation therefore provides a clear framework within which one can discuss the various approximations and assumptions which have been used in earlier work. As examples, we investigate scattering from the deuteron, nuclear matter and dressed nucleons. The results of the full calculation are compared with those where various aspects of the off-shell structure are neglected, as well as with those of the convolution model.Comment: 36 pages RevTeX, 9 figures (available upon request), ADP-93-210/T128, PSI-PR-93-13, accepted for publication in Physical Review

How does the electromagnetic field couple to gravity, in particular to metric, nonmetricity, torsion, and curvature?

The coupling of the electromagnetic field to gravity is an age-old problem. Presently, there is a resurgence of interest in it, mainly for two reasons: (i) Experimental investigations are under way with ever increasing precision, be it in the laboratory or by observing outer space. (ii) One desires to test out alternatives to Einstein's gravitational theory, in particular those of a gauge-theoretical nature, like Einstein-Cartan theory or metric-affine gravity. A clean discussion requires a reflection on the foundations of electrodynamics. If one bases electrodynamics on the conservation laws of electric charge and magnetic flux, one finds Maxwell's equations expressed in terms of the excitation H=(D,H) and the field strength F=(E,B) without any intervention of the metric or the linear connection of spacetime. In other words, there is still no coupling to gravity. Only the constitutive law H= functional(F) mediates such a coupling. We discuss the different ways of how metric, nonmetricity, torsion, and curvature can come into play here. Along the way, we touch on non-local laws (Mashhoon), non-linear ones (Born-Infeld, Heisenberg-Euler, Plebanski), linear ones, including the Abelian axion (Ni), and find a method for deriving the metric from linear electrodynamics (Toupin, Schoenberg). Finally, we discuss possible non-minimal coupling schemes.Comment: Latex2e, 26 pages. Contribution to "Testing Relativistic Gravity in Space: Gyroscopes, Clocks, Interferometers ...", Proceedings of the 220th Heraeus-Seminar, 22 - 27 August 1999 in Bad Honnef, C. Laemmerzahl et al. (eds.). Springer, Berlin (2000) to be published (Revised version uses Springer Latex macros; Sec. 6 substantially rewritten; appendices removed; the list of references updated

Resummation of the Divergent Perturbation Series for a Hydrogen Atom in an Electric Field

We consider the resummation of the perturbation series describing the energy displacement of a hydrogenic bound state in an electric field (known as the Stark effect or the LoSurdo-Stark effect), which constitutes a divergent formal power series in the electric field strength. The perturbation series exhibits a rich singularity structure in the Borel plane. Resummation methods are presented which appear to lead to consistent results even in problematic cases where isolated singularities or branch cuts are present on the positive and negative real axis in the Borel plane. Two resummation prescriptions are compared: (i) a variant of the Borel-Pade resummation method, with an additional improvement due to utilization of the leading renormalon poles (for a comprehensive discussion of renormalons see [M. Beneke, Phys. Rep. vol. 317, p. 1 (1999)]), and (ii) a contour-improved combination of the Borel method with an analytic continuation by conformal mapping, and Pade approximations in the conformal variable. The singularity structure in the case of the LoSurdo-Stark effect in the complex Borel plane is shown to be similar to (divergent) perturbative expansions in quantum chromodynamics.Comment: 14 pages, RevTeX, 3 tables, 1 figure; numerical accuracy of results enhanced; one section and one appendix added and some minor changes and additions; to appear in phys. rev.

Green function techniques in the treatment of quantum transport at the molecular scale

The theoretical investigation of charge (and spin) transport at nanometer length scales requires the use of advanced and powerful techniques able to deal with the dynamical properties of the relevant physical systems, to explicitly include out-of-equilibrium situations typical for electrical/heat transport as well as to take into account interaction effects in a systematic way. Equilibrium Green function techniques and their extension to non-equilibrium situations via the Keldysh formalism build one of the pillars of current state-of-the-art approaches to quantum transport which have been implemented in both model Hamiltonian formulations and first-principle methodologies. We offer a tutorial overview of the applications of Green functions to deal with some fundamental aspects of charge transport at the nanoscale, mainly focusing on applications to model Hamiltonian formulations.Comment: Tutorial review, LaTeX, 129 pages, 41 figures, 300 references, submitted to Springer series "Lecture Notes in Physics

A First Search for coincident Gravitational Waves and High Energy Neutrinos using LIGO, Virgo and ANTARES data from 2007

We present the results of the first search for gravitational wave bursts associated with high energy neutrinos. Together, these messengers could reveal new, hidden sources that are not observed by conventional photon astronomy, particularly at high energy. Our search uses neutrinos detected by the underwater neutrino telescope ANTARES in its 5 line configuration during the period January - September 2007, which coincided with the fifth and first science runs of LIGO and Virgo, respectively. The LIGO-Virgo data were analysed for candidate gravitational-wave signals coincident in time and direction with the neutrino events. No significant coincident events were observed. We place limits on the density of joint high energy neutrino - gravitational wave emission events in the local universe, and compare them with densities of merger and core-collapse events.Comment: 19 pages, 8 figures, science summary page at http://www.ligo.org/science/Publication-S5LV_ANTARES/index.php. Public access area to figures, tables at https://dcc.ligo.org/cgi-bin/DocDB/ShowDocument?docid=p120000

MHD equilibrium properties of tokamak fusion reactor designs

The equilibrium properties of several Tokamak Reactor Designs are analyzed and compared for varying pressure and current profiles using the Princeton Equilibrium Code. It is found that the UWMAK configuration has a broader range of equilibria than the Princeton Reference Design configuration, but that the safety factor on axis is less than unity for peaked current distributions. The Argonne Experimental Power Reactor has a satisfactory range of equilibria, but a means of limiting or diverting the plasma has not yet been proposed, and this may substantially change the results obtained. (auth

Methylation of all BRCA1 copies predicts response to the PARP inhibitor rucaparib in ovarian carcinoma

Accurately identifying patients with high-grade serous ovarian carcinoma (HGSOC) who respond to poly(ADP-ribose) polymerase inhibitor (PARPi) therapy is of great clinical importance. Here we show that quantitative BRCA1 methylation analysis provides new insight into PARPi response in preclinical models and ovarian cancer patients. The response of 12 HGSOC patient-derived xenografts (PDX) to the PARPi rucaparib was assessed, with variable dose-dependent responses observed in chemo-naive BRCA1/2-mutated PDX, and no responses in PDX lacking DNA repair pathway defects. Among BRCA1-methylated PDX, silencing of all BRCA1 copies predicts rucaparib response, whilst heterozygous methylation is associated with resistance. Analysis of 21 BRCA1-methylated platinum-sensitive recurrent HGSOC (ARIEL2 Part 1 trial) confirmed that homozygous or hemizygous BRCA1 methylation predicts rucaparib clinical response, and that methylation loss can occur after exposure to chemotherapy. Accordingly, quantitative BRCA1 methylation analysis in a pre-treatment biopsy could allow identification of patients most likely to benefit, and facilitate tailoring of PARPi therapy.Olga Kondrashova … M.K. Oehler … [et al.] (Australian Ovarian Cancer Study (AOCS)