58 research outputs found

    Influence of uniaxial tensile stress on the mechanical and piezoelectric properties of short-period ferroelectric superlattice

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    Tetragonal ferroelectric/ferroelectric BaTiO3/PbTiO3 superlattice under uniaxial tensile stress along the c axis is investigated from first principles. We show that the calculated ideal tensile strength is 6.85 GPa and that the superlattice under the loading of uniaxial tensile stress becomes soft along the nonpolar axes. We also find that the appropriately applied uniaxial tensile stress can significantly enhance the piezoelectricity for the superlattice, with piezoelectric coefficient d33 increasing from the ground state value by a factor of about 8, reaching 678.42 pC/N. The underlying mechanism for the enhancement of piezoelectricity is discussed

    A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report

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    Bethlem myopathy (BM) is a disease that is caused by mutations in the collagen VI genes. It is a mildly progressive disease characterized by proximal muscle weakness and contracture of the fingers, the wrist, the elbow, and the ankle. BM is an autosomal dominant inheritance that is mainly caused by dominant COL6A1, COL6A2, or COL6A3 mutations. However, a few cases of collagen VI mutations with bilateral facial weakness and Beevor's sign have also been reported. This study presents a 50-year-old female patient with symptoms of facial weakness beginning in childhood and with the slow progression of the disease with age. At the age of 30 years, the patient presented with asymmetrical proximal muscle weakness, and the neurological examination revealed bilateral facial weakness and a positive Beevor's sign. Phosphocreatine kinase was slightly elevated with electromyography showing myopathic changes and magnetic resonance imaging (MRI) of the lower limb muscles showing the muscle MRI associated with collagen VI (COL6)-related myopathy (COL6-RM). The whole-genome sequencing technology identified the heterozygous mutation c.6817-2(IVS27)A>G in the COL6A3 gene, which was in itself a novel mutation. The present study reports yet another case of BM, which is caused by the recessive COL6A3 intron variation, widening the clinical spectrum and genetic heterogeneity of BM

    A Human-Specific De Novo Protein-Coding Gene Associated with Human Brain Functions

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    To understand whether any human-specific new genes may be associated with human brain functions, we computationally screened the genetic vulnerable factors identified through Genome-Wide Association Studies and linkage analyses of nicotine addiction and found one human-specific de novo protein-coding gene, FLJ33706 (alternative gene symbol C20orf203). Cross-species analysis revealed interesting evolutionary paths of how this gene had originated from noncoding DNA sequences: insertion of repeat elements especially Alu contributed to the formation of the first coding exon and six standard splice junctions on the branch leading to humans and chimpanzees, and two subsequent substitutions in the human lineage escaped two stop codons and created an open reading frame of 194 amino acids. We experimentally verified FLJ33706's mRNA and protein expression in the brain. Real-Time PCR in multiple tissues demonstrated that FLJ33706 was most abundantly expressed in brain. Human polymorphism data suggested that FLJ33706 encodes a protein under purifying selection. A specifically designed antibody detected its protein expression across human cortex, cerebellum and midbrain. Immunohistochemistry study in normal human brain cortex revealed the localization of FLJ33706 protein in neurons. Elevated expressions of FLJ33706 were detected in Alzheimer's brain samples, suggesting the role of this novel gene in human-specific pathogenesis of Alzheimer's disease. FLJ33706 provided the strongest evidence so far that human-specific de novo genes can have protein-coding potential and differential protein expression, and be involved in human brain functions

    MICA/B expression is inhibited by unfolded protein response and associated with poor prognosis in human hepatocellular carcinoma

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    BackgroundMICA/B are major ligands for NK cell activating receptor NKG2D and previous studies showed that the serum level of soluble MICA (sMICA) is an independent prognostic factor for advanced human hepatocellular carcinoma. However, the correlation between cellular MICA/B expression pattern and human hepatocellular carcinoma progression has not been well explored. The unfolded protein response is one of the main causes of resistance to chemotherapy and radiotherapy in tumor cells. However, whether the UPR in HCC could regulate the expression levels of MICA/B and affect the sensitivity of HCC cells to NK cell cytolysis has not been established yet.MethodsMICA/B expression pattern was evaluated by immunohistochemistry and Kaplan-Meier survival analysis was done to explore the relationship between MICA/B expression level and patient survival. The protein and mRNA expression levels of MICA/B in SMMC7721 and HepG2 cells treated by tunicamycin were evaluated by flow cytometry, Western Blot and RT-PCR. The cytotoxicity analysis was performed with the CytoTox 96 Non-Radioactive LDH Cytotoxicity Assay.ResultsMICA/B was highly expressed in human hepatocellular carcinoma and the expression level was significantly and negatively associated with tumor-node metastasis (TNM) stages. Patients with low level of MICA/B expression showed a trend of shorter survival time. The unfolded protein response (UPR) downregulated the expression of MICA/B. This decreased protein expression occurred via post-transcriptional regulation and was associated with proteasomal degradation. Moreover, decreased expression level of MICA/B led to the attenuated sensitivity of human HCC to NK cell cytotoxicity.ConclusionThese new findings of the connection of MICA/B, UPR and NK cells may represent a new concrete theory of NK cell regulation in HCC, and suggest that targeting this novel NK cell-associated immune evasion pathway may be meaningful in treating patients with HCC.Electronic supplementary materialThe online version of this article (doi:10.1186/s13046-014-0076-7) contains supplementary material, which is available to authorized users

    A Novel Framework for Shock Filter Using Partial Differential Equations

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    In dilation or erosion processes, a shock filter is widely used in signal enhancing or image deburring. Traditionally, sign function is employed in shock filtering for reweighting of edge-detection in images and decides whether a pixel should dilate to the local maximum or evolve to the local minimum. Some researchers replace sign function with tanh function or arctan function, trying to change the evolution tracks of the pixels when filtering is in progress. However, analysis here reveals that only function replacement does usually not work. This paper revisits first shock filters and their modifications. Then, a fuzzy shock filter is proposed after a membership function in a shock filter model is adopted to adjust the evolve rate of image pixels. The proposed filter is a parameter tuning system, which unites several formulations of shock filters into one fuzzy framework. Experimental results show that the new filter is flexible and robust and can converge fast

    Effect of Carbonization Temperature on Microstructures and Properties of Electrospun Tantalum Carbide/Carbon Fibers

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    Compared with traditional metal materials, carbon-based materials have the advantages of low density, high conductivity, good chemical stability, etc., and can be used as reliable alternative materials in various fields. Among them, the carbon fiber conductive network constructed by electrospinning technology has the advantages of high porosity, high specific surface area and rich heterogeneous interface. In order to further improve the conductivity and mechanical properties of pure carbon fiber films, tantalum carbide (TaC) nanoparticles were selected as conductive fillers. The crystallization degree, electrical and mechanical properties of electrospun TaC/C nanofibers at different temperatures were investigated. As the carbonization temperature increases, the crystallization degree and electrical conductivity of the sample also increases, while the growth trend of electrical conductivity is markedly slowed. The best mechanical properties of 12.39 MPa was achieved when the carbonization temperature was 1200 °C. Finally, through comprehensive analysis and comparison, it can be concluded that a carbonization temperature of 1200 °C is the optimum

    Characterization of the complete chloroplast genome of Delphinium grandiflorum L.

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    Delphinium grandiflorum L. is a perennial herb, and has very high medicinal value. However, the evolutionary relationship analysis of D. grandiflorum is limited. Its cp genome was 157,339 bp in length, containing a pair of inverted repeated regions (52,304 bp), separated by a large single copy region of 88,098 bp, and a small single copy region of 16,937 bp. Moreover, a total of 117 functional genes were annotated, including 79 mRNA, 30 tRNA genes, and 8 rRNA genes. The phylogenetic relationships inferred that D. grandiflorum was closely related to Gymnaconitum gymnandrum. This study will provide a theoretical basis for species identification and biological research
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