Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.

Transient abnormal myelopoiesis (TAM) is a common complication in newborns with Down syndrome (DS). It commonly progresses to myeloid leukemia (ML-DS) after spontaneous regression. In contrast to the favorable prognosis of primary ML-DS, patients with refractory/relapsed ML-DS have poor outcomes.

Experimental study on chorus emission in an artificial magnetosphere.

Wave particle interaction plays an important role in geospace and space weather phenomena. Whistler mode chorus emissions, characterized by non-linear growth and frequency chirping, are common in planetary magnetospheres. They are regarded as the origin of relativistic acceleration of particles in the radiation belts and pulsating aurora.

First application of data assimilation-based control to fusion plasma.

Magnetic fusion plasmas, which are complex systems comprising numerous interacting elements, have large uncertainties. Therefore, future fusion reactors require prediction-based advanced control systems with an adaptive system model and control estimation robust to uncertainties in the model and observations. To address this challenge, we introduced a control approach based on data assimilation (DA), which describes the system model adaptation and control estimation based on the state probability distribution.

Increased signal separation upgrade permits preliminary electron anisotropy measurements with Heliotron J multi-pass Thomson diagnostic.

A signal separation system is constructed on the multi-pass Thomson scattering system of Heliotron J to solve the problem of overlapping scattered light signals for the electron temperature anisotropy measurement. The phenomenon of overlapping scattered light signals is relieved by operating the signal separation system. A Raman scattering experiment is undertaken to verify the separation effect of the signal separation system.

Design of a dual scattering angle multi-pass Thomson scattering system with signal separation function on Heliotron J.

This paper proposes a design of dual scattering angles multi-path Thomson scattering system with a signal separation function to solve the overlapping phenomenon of scattered light signals and to increase the measurement accuracy for the investigation of anisotropic electron velocity distribution. Furthermore, an optical path design is proposed to demonstrate how overlapping scattered light signals can be separated by setting the optical path in a limited room with a compact layout, which makes the incident interval between two overlapping scattered light signals 1.7 times longer than that of our current system.

Collective Thomson scattering diagnostic with in situ calibration system for velocity space analysis in large helical device.

A collective Thomson scattering (CTS) diagnostic with a ±3 GHz band around a 77 GHz gyrotron probe beam was developed to measure the velocity distribution of bulk and fast ions in high-temperature plasmas. We propose a new in situ calibration method for a CTS diagnostic system combined with a raytracing code. The method is applied in two situations for electron cyclotron emission in plasmas and in a CTS diagnostic with a modulated probe beam.

Preceding propagation of turbulence pulses at avalanche events in a magnetically confined plasma.

The preceding propagation of turbulence pulses has been observed for the first time in heat avalanche events during the collapse of the electron internal transport barrier (e-ITB) in the Large Helical Device. The turbulence and heat pulses are generated near the foot of the e-ITB and propagate to the peripheral region within a much shorter time than the diffusion timescale. The propagation speed of the turbulence pulse is approximately 10 km/s, which is faster than that of the heat pulse propagating at a speed of 1.

Calibration of coherence imaging spectroscopy using spectral line sources.

Coherence imaging spectroscopy (CIS) measures the two-dimensional profiles of both ion temperature and ion velocity in plasmas. The interferometric technique is realized by a certain relation between the phase and the wavelength of light emerging from a birefringent crystal. The calibration for the CIS system requires monochromatic and tunable light sources near the He II line (468.

Improvement in multipass Thomson scattering system comprising laser amplification system developed in GAMMA 10/PDX.

The multipass Thomson scattering (MPTS) technique is one of the most useful methods for measuring low-electron-density plasmas. The MPTS system increases Thomson scattering (TS) signal intensities by integrating all multipass (MP) signals and improving the TS time resolution by analyzing each pass signal. The fully coaxial MPTS system developed in GAMMA 10/potential-control and diverter-simulator experiments has a polarization-based configuration with image-relaying optics.

Reformation of the Electron Internal Transport Barrier with the Appearance of a Magnetic Island.

When realising future fusion reactors, their stationary burning must be maintained and the heat flux to the divertor must be reduced. This essentially requires a stationary internal transport barrier (ITB) plasma with a fast control system. However, the time scale for determining the position of the foot point of an ITB is not clearly understood even though its understanding is indispensable for fast profile control.

Prokaryotic ribosomal RNA stimulates zebrafish embryonic innate immune system.

Objectives: Cell-culture studies reported that prokaryotic RNA molecules among the various microbe-associated molecular patterns (MAMPs) were uniquely present in live bacteria and were categorized as viability-associated MAMPs. They also reported that specific nucleotide modifications are instrumental in the discrimination between self and nonself RNAs. The aim of this study was to characterize the in vivo immune induction potential of prokaryotic and eukaryotic ribosomal RNAs (rRNAs) using zebrafish embryos as novel whole animal model system.

Abnormal development of zebrafish after knockout and knockdown of ribosomal protein L10a.

In this study, to investigate the secondary function of Rpl10a in zebrafish development, morpholino antisense oligonucleotides (MOs) were used to knock down the zebrafish ribosomal protein L10a (rpl10a). At 25 hpf (hours post-fertilization), embryos injected with the rpl10a MO showed an abnormal morphology, including short bodies, curved tails, and small yolk sac extensions. We observed pigment reductions, edema, larger yolk sacs, smaller eyes and smaller yolk sac extensions at 50 hpf.

Zebrafish Models of Diamond-Blackfan Anemia: A Tool for Understanding the Disease Pathogenesis and Drug Discovery.

Diamond-Blackfan anemia (DBA) is a rare bone marrow failure syndrome characterized by red blood cell aplasia. Currently, mutations in 19 ribosomal protein genes have been identified in patients. However, the pathogenic mechanism of DBA remains unknown.

Age- and α-Synuclein-Dependent Degeneration of Dopamine and Noradrenaline Neurons in the Annual Killifish Nothobranchius furzeri.

Parkinson's disease (PD) is a neurodegenerative disease characterized by α-synuclein-positive inclusion bodies and loss of neurons, including dopaminergic neurons. Difficulty in replicating PD phenotypes using animal models partly limits the understanding of PD and the therapy required. Although PD is strongly associated with aging, most experimental animals may not exhibit age-related symptoms.

Development of a laser amplification system for the multi-pass Thomson scattering system for GAMMA 10/PDX.

The multi-pass Thomson scattering (MPTS) system is a useful technique for increasing the Thomson scattering (TS) signal intensities and improving the TS diagnostic time resolution. The MPTS system developed in GAMMA 10/PDX has a polarization-based configuration with an image relaying system. The MPTS system has been constructed for enhancing the Thomson scattered signals for the improvement of measurement accuracy and the megahertz sampling time resolution.

Coherence-imaging spectroscopy for 2D distribution of ion temperature and flow velocity in a laboratory magnetosphere.

A coherence-imaging spectroscopy (CIS) technique was developed to investigate plasma confinement in a dipole system that imitates a planetary magnetosphere. Optical interference generated using birefringent crystals enables two-dimensional Doppler spectroscopy to measure ion temperatures and flow velocities in plasmas. CIS covers the entire dynamics of the pole areas as well as of the core and edge areas on a dipole confinement device.

Nd:YAG laser Thomson scattering diagnostics for a laboratory magnetosphere.

A new Nd:YAG laser Thomson scattering (TS) system has been developed to explore the mechanism of high-beta plasma formation in the RT-1 device. The TS system is designed to measure electron temperatures (T) from 10 eV to 50 keV and electron densities (n) of more than 1.0 × 10 m.

Identification of zebrafish steroid sulfatase and comparative analysis of the enzymatic properties with human steroid sulfatase.

Steroid sulfatase (STS) plays an important role in the regulation of steroid hormones. Metabolism of steroid hormones in zebrafish has been investigated, but the action of steroid sulfatase remains unknown. In this study, a zebrafish sts was cloned, expressed, purified, and characterized in comparison with the orthologous human enzyme.

The Role of scaRNAs in Adjusting Alternative mRNA Splicing in Heart Development.

Congenital heart disease (CHD) is a leading cause of death in children <1 year of age. Despite intense effort in the last 10 years, most CHDs (~70%) still have an unknown etiology. Conotruncal based defects, such as Tetralogy of Fallot (TOF), a common complex of devastating heart defects, typically requires surgical intervention in the first year of life.

Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models.

Mutations in genes encoding ribosomal proteins have been identified in Diamond-Blackfan anemia (DBA), a rare genetic disorder that presents with a prominent erythroid phenotype. TP53 has been implicated in the pathophysiology of DBA with ribosomal protein (RP) L11 playing a crucial role in the TP53 response. Interestingly, RPL11 also controls the transcriptional activity of c-Myc, an oncoprotein that positively regulates ribosome biogenesis.

Identification and characterization of 5α-cyprinol-sulfating cytosolic sulfotransferases (Sults) in the zebrafish (Danio rerio).

5α-Cyprinol 27-sulfate is the major biliary bile salt present in cypriniform fish including the zebrafish (Danio rerio). The current study was designed to identify the zebrafish cytosolic sulfotransferase (Sult) enzyme(s) capable of sulfating 5α-cyprinol and to characterize the zebrafish 5α-cyprinol-sulfating Sults in comparison with human SULT2A1. Enzymatic assays using zebrafish homogenates showed 5α-cyprinol-sulfating activity.

Characterization of human telomere RNA G-quadruplex structures in vitro and in living cells using 19F NMR spectroscopy.

Human telomeric RNA has been identified as a key component of the telomere machinery. Recently, the growing evidence suggests that the telomeric RNA forms G-quadruplex structures to play an important role in telomere protection and regulation. In the present studies, we developed a 19F NMR spectroscopy method to investigate the telomeric RNA G-quadruplex structures in vitro and in living cells.

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by survival motor neuron gene mutations. Variant forms of SMA accompanied by additional clinical presentations have been classified as atypical SMA and are thought to be caused by variants in as yet unidentified causative genes. Here, we presented the clinical findings of two siblings with an SMA variant followed by progressive cerebral atrophy, and the results of whole-exome sequencing analyses of the family quartet that was performed to identify potential causative variants.