Rett Syndrome (RTT) is a neurodevelopmental disorder caused by pathogenic variants in the gene. While the majority of RTT-causing variants are clustered in the methyl-CpG binding domain and NCoR/SMRT interaction domain, we report a female patient with a functionally uncharacterized variant in the C-terminal domain, c.1030C>T (R344W).
View Article and Find Full Text PDFJ Colloid Interface Sci
October 2022
Hypothesis: Self-assembly of colloidal particles enables the versatile fabrication of highly ordered structures and materials for optical, sensing, and other applications. Nevertheless, many traditional assembly processes are inefficient, because there exists an inevitable contradiction between time efficiency and crystalline quality. In this work, we introduce an ultrafast, robust, and scalable approach of imbibition-induced assembly.
View Article and Find Full Text PDFLuteolin, a flavonoid in fruits and vegetables, has neurotrophic functions without a well-characterized mechanism. Here, we hypothesize a direct interaction of luteolin with nerve growth factor (NGF); as such, the functionality of the NGF could be potentiated. The direct binding of luteolin with NGF was validated by ultra-filtration, Biacore, and docking analyses.
View Article and Find Full Text PDFThe thermal stability and decomposition kinetics analysis of 1-alkyl-2,3-dimethylimidazole nitrate ionic liquids with different alkyl chains (ethyl, butyl, hexyl, octyl and decyl) were investigated by using isothermal and nonisothermal thermogravimetric analysis combined with thermoanalytical kinetics calculations (Kissinger, Friedman and Flynn-Wall-Ozawa) and density functional theory (DFT) calculations. Isothermal experiments were performed in a nitrogen atmosphere at 240, 250, 260 and 270 °C. In addition, the nonisothermal experiments were carried out in nitrogen and air atmospheres from 30 to 600 °C with heating rates of 5, 10, 15, 20 and 25 °C/min.
View Article and Find Full Text PDFCritical-like behaviors have been found in translational degrees of freedom near the glass transition of spherical particle systems mainly with local polycrystalline structures, but it is not clear if criticality exists in more general glassy systems composed of nonspherical particles without crystalline structures. Here, through experiments and simulations, we show critical-like behaviors in both translational and rotational degrees of freedom in monolayers of monodisperse colloidal ellipsoids in the absence of crystalline orders. We find rich features of the Ising-like criticality in structure and slow dynamics at the ideal glass transition point ϕ, showing the thermodynamic nature of glass transition at ϕ A dynamic criticality is found at the mode-coupling critical point ϕ for the fast-moving clusters whose critical exponents increase linearly with fragility, reflecting a dynamic glass transition.
View Article and Find Full Text PDFChili pepper belongs to the genus of Solanaceae family. Capsaicin is the primary capsaicinoid in placenta and flesh of chili pepper fruit, which has been shown to have various pharmacological functions, including gastric protection, anti-inflammation, and obesity treatment. Here, we revealed that capsaicin as well as chilli extract was able to inhibit synthesis of melanin in melanocytes.
View Article and Find Full Text PDFAcetylcholinesterase (AChE) hydrolyses acetylcholine to choline and acetate, playing an important role in terminating the neurotransmission in brain and muscle. Recently, the non-neuronal functions of AChE have been proposed in different tissues, in which there are various factors to regulate the expression of AChE. In mammalian skin, AChE was identified in melanocytes and keratinocytes.
View Article and Find Full Text PDFBackground: Shexiang Baoxin Pill (SBP), a formulated traditional Chinese medicine (TCM), has been widely used to treat cardiovascular diseases for years. This herbal mixture has been shown to promote differentiation of cultured neuronal cells. Here, we aimed to investigate the effects of SBP in attenuating cognitive impairment in APP/PS1 transgenic mice.
View Article and Find Full Text PDFShexiang Baoxin Pill (SBP) is a well-known composite formula of traditional Chinese medicine (TCM), which is commonly used today in treating cardiovascular diseases. SBP consists of seven materials thereof, including , extract of , , , , , and . Here, we are investigating the potential roles of SBP in inducing neuron differentiation, i.
View Article and Find Full Text PDFPhytomedicine
November 2019
Background: Melanoma is a lethal cancer. NF-κB has been validated as a molecular target for melanoma treatment. Current therapies for melanoma have limitations.
View Article and Find Full Text PDFA defect-free crystal can be superheated into a metastable state above its melting point and eventually melts via homogeneous nucleation. Further increasing the temperature leads to the metastable crystal becoming unstable and melting catastrophically once beyond its superheat limit. The homogeneous melting is not well studied near the superheat limit and this limit is difficult to measure accurately, even for the simplest model of hard-sphere crystals.
View Article and Find Full Text PDFGravitropism is vital for shaping directional plant growth in response to the forces of gravity. Signals perceived in the gravity-sensing cells can be converted into biochemical signals and transmitted. Sedimentation of amyloplasts in the columella cells triggers asymmetric auxin redistribution in root tips, leading to downward root growth.
View Article and Find Full Text PDFWhen a liquid is supercooled towards the glass transition, its dynamics drastically slows down, whereas its static structure remains relatively unchanged. Finding a structural signature of the dynamic slowing down is a major challenge, yet it is often too subtle to be uncovered. Here we discover the structural signatures for both translational and rotational dynamics in monolayers of colloidal ellipsoids by video microscopy experiments and computer simulations.
View Article and Find Full Text PDFThe nucleation process is crucial to many phase transitions, but its kinetics are difficult to predict and measure. We superheated and melted the interior of thermal-sensitive colloidal crystals and investigated by means of video microscopy the homogeneous melting at single-particle resolution. The observed nucleation precursor was local particle-exchange loops surrounded by particles with large displacement amplitudes rather than any defects.
View Article and Find Full Text PDFPhys Rev Lett
August 2011
We observed a two-step glass transition in monolayers of colloidal ellipsoids by video microscopy. The glass transition in the rotational degree of freedom was at a lower density than that in the translational degree of freedom. Between the two transitions, ellipsoids formed an orientational glass.
View Article and Find Full Text PDFWe studied the self-diffusion of colloidal ellipsoids in a monolayer near a flat wall by video microscopy. The image processing algorithm can track the positions and orientations of ellipsoids with subpixel resolution. The translational and rotational diffusions were measured in both the laboratory frame and the body frame along the long and short axes.
View Article and Find Full Text PDFIn this paper, cooperative self-assembly (CSA) of colloidal spheres with different sizes was studied. It was found that a complicated jamming effect makes it difficult to achieve an optimal self-assembling condition for construction of a well-ordered stacking of colloidal spheres in a relatively short growth time by CSA. Through the use of a characteristic infrared (IR) technique to significantly accelerate local evaporation on the growing interface without changing the bulk growing environment, a concise three-parameter (temperature, pressure, and IR intensity) CSA method to effectively overcome the jamming effect has been developed.
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