988 research outputs found

    A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

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    We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events. DDX59 encodes a DEAD-box RNA helicase and its role in brain function and neurological diseases is unclear. We showed a reduction of mutant cDNA and perturbation of SHH signaling from patient-derived cell lines; furthermore, analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies-associated genes. We also characterized the neuronal phenotype of the Drosophila model using mutant mahe, the homolog of human DDX59, and showed that mahe loss-of-function mutant embryos exhibit impaired development of peripheral and central nervous system. Taken together, our results support a conserved role of this DEAD-box RNA helicase in neurological function

    Harnessing vibrational resonance to identify and enhance input signals

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    We report the occurrence of vibrational resonance (VR) and the underlying mechanism in a simple piecewise linear electronic circuit, namely the Murali-Lakshmanan-Chua (MLC) circuit, driven by an additional biharmonic signal with widely different frequency. When the amplitude of the high-frequency force is tuned, the resultant vibrational resonance is used to detect the low-frequency signal and also to enhance it into a high-frequency signal. Further, we also show that even when the low-frequency signal is changed from sine wave to square and sawtooth waves, vibrational resonance can be used to detect and enhance them into high-frequency signals. These behaviors, confirmed by experimental results, are illustrated with appropriate analytical and numerical solutions of the corresponding circuit equations describing the system. Finally, we also verify the signal detection in the above circuit even with the addition of noise.Comment: Accepted for Publication in Chao

    Formation of by high power ultrasound aggregated emulsions stabilised with milk protein concentrate (MPC70)

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    In this work, oil-in-water emulsions stabilised by milk protein concentrate (MPC70) were investigated. The MPC70 concentration was kept constant at 5% (close to the protein content found in skim milk) and the oil volume fraction was varied from 20 to 65%. Sonication was performed at 20 kHz and at a constant power of 14.4 W for a total emulsion volume of 10 mL. Under certain oil concentration (≥35%) and sonication times (≥3s) the emulsion aggregated and formed high-viscosity pseudo plastic materials. However, the viscosity behaviour of the emulsion made with 35% oil reverted to that of a liquid if sonicated for longer times (≥15 s). Confocal laser scanning microscopy showed clearly that the oil droplets are aggregated under the sonication conditions and oil concentrations indicated above. An attempt to explain this behaviour through a simple model based on the bridging of oil droplets by the MPC70 particles and, taking into account the oil droplet and MPC70 particle sizes as well as the oil volume fraction, was made. The model fails to describe in details the aggregation behaviour of these emulsions, likely due to the inhomogeneous protein layer, where both free caseins and casein micelles are adsorbed, and to the packing of the oil droplets at concentrations ≤55%. Nonetheless, this work demonstrates the potential of ultrasound processing for the formation of dairy emulsions with tailored textures.fals

    Morphological, micro and macro nutrient analysis of the medicinal plant glory lily (Gloriosa superba L.)

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    In this study the three different treated tuber and seed samples of Glory lily were collected from farmer field's of Udayarpalayam and analyzed for the possible presence of colchicines using SEM technique. The results of SEM have shown that the presence of elements Ca and Fe are found only in Organic Manure Treatment. Also the quantitative estimation of EDX spectra observation confirms the percentage of Zn in Organic Manure Treatment (T3) was the highest among all the treatments. In conclusion from the results, Glory Lily may be considered as colchicines sources for the chemical constituents of medicine industry. Further it would be useful of producing high amount of colchicines for pest control based on natural products

    FTIR spectroscoptc study and antifungal activity of the medicinal plant glory lily (Gloriosa superba)

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    In this present study, the presence of the phyto compound (i.e.) Colchicine and other chemical constituents present in three different treated tuber and seed samples of Glory Lily (Gloriosa superbd) was confirmed using FTIR. An attempt has been made to correlate the extinction coefficient (K) values of all the samples. And also the samples were extensively studied for their antifungal activity against Pseudomonas aeruginosa, Klebsiella phemoniae, and Salmonella typhi. The results indicated that the Organic Manure treated samples were highly active against the three fungi

    Isolation and characterization of altered root growth behavior and salinity tolerant mutants in rice

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    Generation, screening and isolating mutants for any developmental and adaptive traits plays a major role in plant functional genomics research. Identification and exploitation of mutants possessing contrasting root growth behavior and salinity tolerance in rice will help us to identify key genes controlling these traits and in turn will be useful for manipulating abiotic stress tolerance through tilling and genetic engineering in rice. In this study, we have screened about 1500 mutants (M2 generation) generated by treating an upland drought tolerant genotype Nagina 22 with Ethyl Methane Sulfonate (EMS), for their root growth behavior and salinity tolerance under hydroponic conditions. Six independent mutant lines possessing significantly shorter roots and three mutant lines exhibiting greater degree of salinity tolerance than the wild type plants were identified. The identified mutant lines were advanced to M5 generation to allow the mutants to reach homozygosity, and the fixed mutants were confirmed for their phenotype. One mutant namely N22-C-241-5-6 was found to possess significantly shorter roots than wild type N22, and it was also noticed that the mutant was devoid of root cap. Among the three salinity tolerant mutant lines identified, N22-C-334-3 was found to possess a greater degree of tolerance upto 250 mM Nacl stress at germination stage. These identified mutant lines can be used for further physiological, biochemical and molecular biology experiments to identify candidate gene(s) controlling root growth behavior and salinity tolerance in rice.Keywords: Rice, mutation, EMS, altered rood growth and salinity tolerant mutantAfrican Journal of Biotechnology Vol. 12(40), pp. 5852-585

    Polymer-mediated delivery of agrochemicals

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    A major challenge in modern agriculture is the inefficient delivery and utilization of agrochemicals, which often leads to their overuse, causing environmental pollution and harming beneficial organisms such as earthworms and bees. This challenge can potentially be addressed by using advanced and efficient methods such as polymer-mediated delivery systems. Polymers offer the potential to enhance the efficiency of agrochemicals used in agriculture. Incorporating polymers into agrochemical delivery systems can overcome the limitations associated with conventional methods. This article aims to analyse the potential role of polymers in agrochemical delivery system. Polymer can enable the precise delivery of active ingredients, nutrients, pesticides and herbicides into plants, making the process more resilient to agrochemical loss associated with conventional delivery methods. Enhancing our understanding of polymers and their properties may improve the efficiency and efficacy of agrochemicals by influencing their interaction with plants, carrier capabilities and release mechanisms

    3′-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk

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    The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype data on rs2229611 revealed that the risk of GSD-Ia was higher (P = 0.0195) with CC compared to TT/TC genotypes, whereas no such correlation was observed with breast cancer cases. We observed a strong linkage disequilibrium (LD) among rs2229611 and other disease causing G6PC1 variants (| D′| = 1, r2 = 1). Functional validation performed in HepG2 cells using luciferase constructs showed significant (P < 0.05) decrease in expression than wild-type 3′-UTR due to curtailed mRNA stability. Furthermore, AU-rich elements (AREs) mediated regulation of G6PC1 expression characterized using 3′-UTR deletion constructs showed a prominent decrease in mRNA stability. We then examined whether miRNAs are involved in controlling G6PC1 expression using pmirGLO-UTR constructs, with evidence of more distinct inhibition in the reporter function with rs2229611. These data suggests that rs2229611 is a crucial regulatory SNP which in homozygous state leads to a more aggressive disease phenotype in GSD-Ia patients. The implication of this result is significant in predicting disease onset, progression and response to disease modifying treatments in patients with GSD-Ia
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