OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

Studies of the functional consequences of DCM-causing mutations have been limited to a few cases where patients with known mutations had heart transplants. To increase the number of potential tissue samples for direct investigation we performed whole exon sequencing of explanted heart muscle samples from 30 patients that had a diagnosis of familial dilated cardiomyopathy and screened for potentially disease-causing mutations in 58 HCM or DCM-related genes.We identified 5 potentially disease-causing OBSCN mutations in 4 samples; one sample had two OBSCN mutations and one mutation was judged to be not disease-related. Also identified were 6 truncating mutations in TTN, 3 mutations in MYH7, 2 in DSP and one each in TNNC1, TNNI3, MYOM1, VCL, GLA, PLB, TCAP, PKP2 and LAMA4. The mean level of obscurin mRNA was significantly greater and more variable in healthy donor samples than the DCM samples but did not correlate with OBSCN mutations. A single obscurin protein band was observed in human heart myofibrils with apparent mass 960 ± 60 kDa. The three samples with OBSCN mutations had significantly lower levels of obscurin immunoreactive material than DCM samples without OBSCN mutations (45±7, 48±3, and 72±6% of control level).Obscurin levels in DCM controls, donor heart and myectomy samples were the same.OBSCN mutations may result in the development of a DCM phenotype via haploinsufficiency. Mutations in the obscurin gene should be considered as a significant causal factor of DCM, alone or in concert with other mutations

Comment on "Can one predict DNA Transcription Start Sites by Studying Bubbles?"

Comment on T.S. van Erp, S. Cuesta-Lopez, J.-G. Hagmann, and M. Peyrard, Phys. Rev. Lett. 95, 218104 (2005) [arXiv: physics/0508094]

Partial scaling transform of multiqubit states as a criterion of separability

The partial scaling transform of the density matrix for multiqubit states is introduced to detect entanglement of quantum states. The transform contains partial transposition as a special case. The scaling transform corresponds to partial time scaling of subsystem (or partial Planck's constant scaling) which was used to formulate recently separability criterion for continous variables.A measure of entanglement which is a generalization of negativity measure is introduced being based on tomographic probability description of spin states.Comment: 16 pages, 5 figures, submitted to J. Phys. A: Math. Ge

Healing Length and Bubble Formation in DNA

We have recently suggested that the probability for the formation of thermally activated DNA bubbles is, to a very good approximation, proportional to the number of soft AT pairs over a length L(n) that depend on the size $n$ of the bubble and on the temperature of the DNA. Here we clarify the physical interpretation of this length by relating it to the (healing) length that is required for the effect of a base-pair defect to become neligible. This provides a simple criteria to calculate L(n) for bubbles of arbitrary size and for any temperature of the DNA. We verify our findings by exact calculations of the equilibrium statistical properties of the Peyrard-Bishop-Dauxois model. Our method permits calculations of equilibrium thermal openings with several order of magnitude less numerical expense as compared with direct evaluations

Angular dependent magnetothermopower of alpha-(ET)2KHg(SCN)4

The magnetic field and angular dependencies of the thermopower and Nernst effect of the quasi-two-dimensional organic conductor alpha-(ET)2KHg(SCN)4 are experimentally measured at temperatures below (4 K) and above (9 K) the transition temperature to fields of In addition, a theoretical model which involves a magnetic breakdown effect between the q1D and q2D bands is proposed in order to simulate the data. Analysis of the background components of the thermopower and Nernst effect imply that at low temperatures, in the CDW state, the properties of alpha-(ET)2KHg(SCN)4 are determined mostly by the orbits on the new open Fermi sheets. Quantum oscillations observed in the both thermoelectric effects, at fields above 8 T, originate only from the alpha orbit.Comment: 25 pages, 18 figure

Josephson current in strongly correlated double quantum dots

We study the transport properties of a serial double quantum dot (DQD) coupled to two superconducting leads, focusing on the Josephson current through the DQD and the associated 0-$\pi$ transitions which result from the subtle interplay between the superconductivity, the Kondo physics, and the inter-dot superexchange interaction. We examine the competition between the superconductivity and the Kondo physics by tuning the relative strength $\Delta/T_K$ of the superconducting gap $\Delta$ and the Kondo temperature $T_K$, for different strengths of the superexchange coupling determined by the interdot tunneling $t$ relative to the dot level broadening $\Gamma$. We find strong renormalization of $t$, a significant role of the superexchange coupling $J$, and a rich phase diagram of the 0 and $\pi$-junction regimes. In particular, when both the superconductivity and the exchange interaction are in close competion with the Kondo physics ($\Delta\sim J\sim T_K$), there appears an island of $\pi'$-phase at large values of the superconducting phase difference.Comment: 4 pages, 4 figure

Excitation spectroscopy of vortex lattices in a rotating Bose-Einstein condensate

Excitation spectroscopy of vortex lattices in rotating Bose-Einstein condensates is described. We numerically obtain the Bogoliubov-deGenne quasiparticle excitations for a broad range of energies and analyze them in the context of the complex dynamics of the system. Our work is carried out in a regime in which standard hydrodynamic assumptions do not hold, and includes features not readily contained within existing treatments.Comment: 4 pages, 4 figures. Submitted for publicatio