Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Although ...several loci, including the pericentromeric region of chromosome 16, have been linked to paroxysmal kinesigenic dyskinesias, the causative gene has not yet been identified. Here, we identified proline-rich transmembrane protein 2 (PRRT2) as a causative gene of paroxysmal kinesigenic dyskinesias by using a combination of exome sequencing and linkage analysis. Genetic linkage mapping with 11 markers that encompassed the pericentromeric of chromosome 16 was performed in 27 members of two families with autosomal dominant paroxysmal kinesigenic dyskinesias. Then, the whole-exome sequencing was performed in three patients from these two families. By combining the defined linkage region (16p12.1-q12.1) and the results of exome sequencing, we identified an insertion mutation c.649_650InsC (p.P217fsX7) in one family and a nonsense mutation c.487C>T (p.Q163X) in another family. To confirm our findings, we sequenced the exons and flanking introns of PRRT2 in another three families with paroxysmal kinesigenic dyskinesias. The c.649_650InsC (p.P217fsX7) mutation was identified in two of these families, whereas a missense mutation, c.796C>T (R266W), was identified in another family with paroxysmal kinesigenic dyskinesias. All of these mutations completely co-segregated with the phenotype in each family. None of these mutations was identified in 500 normal unaffected individuals of matched geographical ancestry. Thus, we have identified PRRT2 as the first causative gene of paroxysmal kinesigenic dyskinesias, warranting further investigations to understand the pathogenesis of this disorder.
The Synthetic Aperture Radar Interferometry (InSAR) technique can quickly obtain millimeter-level surface deformation in urban areas with high coherence. However, expanding the application of time ...series InSAR in non-urban areas is an important research focus. An improved SBAS-InSAR analysis approach is applied in this study to present the surface displacement along two expressways under construction. Taking the Kejiao and Yicheng Highway in the Shenzhen Shanwei Special Cooperation Zone as examples, the deformation along the highways under construction and the surrounding ground objects is revealed. Moreover, the time series displacements and construction conditions are combined to explain the possible mechanisms behind the different displacements of various ground objects along the expressways. The results show that the climate, environment, and construction conditions of the cooperation zone had an impact on the deformation of various ground objects along the route. Compared to traditional PS-InSAR methods, the density and accuracy of coherence points are improved, which better overcomes the spatiotemporal incoherence effects in non-urban areas.
Observation of e+e- → γX(3872) at BESIII Achasov, M N; Albayrak, O; Ambrose, D J ...
Physical review letters,
2014-Mar-07, Letnik:
112, Številka:
9
Journal Article
Recenzirano
Odprti dostop
With data samples collected with the BESIII detector operating at the BEPCII storage ring at center-of-mass energies from 4.009 to 4.420 GeV, the process e+e-→ γX(3872) is observed for the first time ...with a statistical significance of 6.3σ. The measured mass of the X(3872) is (3871.9 ± 0.7s tat ± 0.2 syst) MeV/c(2), in agreement with previous measurements. Measurements of the product of the cross section σe+e- → γX(3872) and the branching fraction BX(3872)→π+π-J/ψ at center-of-mass energies 4.009, 4.229, 4.260, and 4.360 GeV are reported. Our measurements are consistent with expectations for the radiative transition process Y(4260) → γX(3872).
•We theoretically proposed a method to localize the antiferromagnetic skyrmions.•The stable pinning of the skyrmion for certain ranges of injected current is demonstrated.•A precise track-selecting ...of the antiferromagnetic skyrmions is proposed.
Reliable detection of antiferromagnetic (AFM) structures remains an open issue in experiments, although these structures such as skyrmions are suggested to play an important role in future spintronic applications. In this work, we theoretically proposed an alternative method to localize the AFM skyrmions along the direction of driving force through tuning magnetic anisotropy barriers by linear lattice defect design. The dependence of the depinning current on the magnitude and width of the defects and temperature is numerically investigated by solving the Landau-Lifshitz-Gilbert equation and also derived based on the Thiele’s theory. The stable pinning of the skyrmion for certain ranges of the injected current is clearly demonstrated, which suggests an effective way in localizing the skyrmion. Based on the calculated results, we propose a method of precise track-selecting of the AFM skyrmions, which are meaningful for future two- and three- dimensional AFM spintronic device design.
Dysregulation of β-catenin turnover due to mutations of its regulatory proteins including adenomatous polyposis coli (APC) and p53 is implicated in the pathogenesis of cancer. Thus, intensive effort ...is being made to search for alternative approaches to reduce abnormally activated β-catenin in cancer cells. Nur77, an orphan member of the nuclear receptor superfamily, has a role in the growth and apoptosis of cancer cells. Here, we reported that Nur77 could inhibit transcriptional activity of β-catenin by inducing β-catenin degradation via proteasomal degradation pathway that is glycogen synthase kinase 3β and Siah-1 independent. Nur77 induction of β-catenin degradation required both the N-terminal region of Nur77, which was involved in Nur77 ubiquitination, and the C-terminal region, which was responsible for β-catenin binding. Nur77/ΔDBD, a Nur77 mutant lacking its DNA-binding domain, resided in the cytoplasm, interacted with β-catenin, and induced β-catenin degradation, demonstrating that Nur77-mediated β-catenin degradation was independent of its DNA binding and transactivation, and might occur in the cytoplasm. In addition, we reported our identification of two digitalis-like compounds (DLCs), H-9 and ATE-i2-b4, which potently induced Nur77 expression and β-catenin degradation in SW620 colon cancer cells expressing mutant APC protein in vitro and in animals. DLC-induced Nur77 protein was mainly found in the cytoplasm, and inhibition of Nur77 nuclear export by the CRM1-dependent nuclear export inhibitor leptomycin B or Jun N-terminal kinase inhibitor prevented the effect of DLC on inducing β-catenin degradation. Together, our results demonstrate that β-catenin can be degraded by cytoplasmic Nur77 through their interaction and identify H-9 and ATE-i2-b4 as potent activators of the Nur77-mediated pathway for β-catenin degradation.
A theoretical study on the dynamics of an antiferromagnetic (AFM) skyrmion is indispensable for revealing the underlying physics and understanding the numerical and experimental observations. In this ...work, we present a reliable theoretical treatment of the spin-current induced motion of an AFM skyrmion in the absence and presence of pinning defect. For an ideal AFM system free of defect, the skyrmion motion velocity as a function of the intrinsic parameters can be derived, based on the concept that the skyrmion profile agrees well with the 360° domain-wall formula, leading to an explicit description of the skyrmion dynamics. However, for an AFM lattice containing a defect, the skyrmion can be pinned and the depinning field as a function of damping constant and pinning strength can be described by Thiele's approach. It is revealed that the depinning behavior can be remarkably influenced by the time-dependent oscillation of the skyrmion trajectory. The present theory provides a comprehensive scenario for manipulating the dynamics of AFM skyrmion, informative for future spintronic applications based on antiferromagnets.
In this work, we study the microwave field driven domain wall (DW) motion in an antiferromagnetic nanowire, using the numerical calculations based on a classical Heisenberg spin model with the ...biaxial magnetic anisotropy. We show that a proper combination of a static magnetic field plus an oscillating field perpendicular to the nanowire axis is sufficient to drive the DW propagation along the nanowire. More importantly, the drift velocity at the resonance frequency is comparable to that induced by temperature gradients, suggesting that microwave field can be a very promising tool to control DW motions in antiferromagnetic nanostructures. The dependences of resonance frequency and drift velocity on the static and oscillating fields, the axial anisotropy, and the damping constant are discussed in details. Furthermore, the optimal orientations of the field are also numerically determined and explained. This work provides useful information for the spin dynamics in antiferromagnetic nanostructures for spintronics applications.
beta decay of proton-rich nuclei plays an important role in exploring isospin mixing. The beta decay of P-26 at the proton drip line is studied using double-sided silicon strip detectors operating in ...conjunction with high-purity germanium detectors. The T = 2 isobaric analog state (IAS) at 13 055 keV and two new high-lying states at 13 380 and 11 912 keV in Si-26 are unambiguously identified through beta-delayed two-proton emission (beta 2p). Angular correlations of two protons emitted from Si-26 excited states populated by P-26 beta decay are measured, which suggests that the two protons are emitted mainly sequentially. We report the first observation of a strongly isospin-mixed doublet that deexcites mainly via two-proton decay. The isospin mixing matrix element between the Si-26 IAS and the nearby 13 380-keV state is determined to be 130(21) keV, and this result represents the strongest mixing, highest excitation energy, and largest level spacing of a doublet ever observed in beta-decay experiments.
•We study the antiferromagnetic domain wall motion driven by the rotating field.•Two motion modes are found in the absence of Dzyaloshinskii-Moriya interaction.•The dependences of the velocity and ...the critical frequency on several internal parameters are investigated.•The roles of the Dzyaloshinskii-Moriya interaction on the wall motion are clarified.
In this work, we study the rotating magnetic field driven domain wall (DW) motion in antiferromagnetic nanowires, using the micromagnetic simulations of the classical Heisenberg spin model. We show that in low frequency region, the rotating field alone could efficiently drive the DW motion even in the absence of Dzyaloshinskii-Moriya interaction (DMI). In this case, the DW rotates synchronously with the magnetic field, and a stable precession torque is available and drives the DW motion with a steady velocity. In large frequency region, the DW only oscillates around its equilibrium position and cannot propagate. The dependences of the velocity and critical frequency differentiating the two motion modes on several parameters are investigated in details, and the direction of the DW motion can be controlled by modulating the initial phase of the field. Interestingly, a unidirectional DW motion is predicted attributing to the bulk DMI, and the nonzero velocity for high frequency is well explained. Thus, this work does provide useful information for future antiferromagnetic spintronics applications.
This study aimed to observe the dynamic changes of NUP98::NSD1 expression before and after allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Moreover, the clinical value of measurable ...residual disease (MRD) was analyzed.
Sixteen AML patients who were diagnosed with the NUP98::NSD1 fusion gene and received allo-HSCT at Peking University People's Hospital were included. The NUP98::NSD1 fusion gene and leukemia-associated immunophenotype (LAIP) were monitored before and after transplantation to evaluate their MRD status.
The median follow-up time for all patients was 526 days (139-1136 days) , with four patients (25.0%) experiencing hematological recurrence at a median of 474 days (283-607 days) after transplantation. Three patients (18.8%) died, two of whom (12.5%) died of leukemia recurrence. The median expression level of NUP98::NSD1 in newly diagnosed patients with complete data was 78.5% (18.9%-184.4%) at the time of initial diagnosis. The recurrence rate was higher in NUP98::NSD1-positive pa
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