Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans. 相似文献
At present, the potential role of the AgNPs/endo-fullerene molecule metal nano-composite has been evaluated over the biosystems in-vitro. The intra-atomic configuration of the fullerene molecule (C60) has been studied in-vitro for the anti-proliferative activity of human breast adenocarcinoma (MDA-MB-231) cell lines and antimicrobial activity against a few human pathogens that have been augmented with the pristine surface plasmonic electrons and antibiotic activity of AgNPs. Furthermore, FTIR revealed the basic vibrational signatures at ~3300 cm−1, 1023 cm−1, 1400 cm−1 for O-H, C-O, and C-H groups, respectively, for the carbon and oxygen atoms of the C60 molecule. NMR studies exhibited the different footprints and magnetic moments at ~7.285 ppm, explaining the unique underlying electrochemical attributes of the fullerene molecule. Such unique electronic and physico-chemical properties of the caged carbon structure raise hope for applications into the drug delivery domain. The in-vitro dose-dependent application of C60 elicits a toxic response against both the breast adenocarcinoma cell lines and pathogenic microbes. That enables the use of AgNPs decorated C60 endo fullerene molecules to design an effective anti-cancerous drug delivery and antimicrobial agent in the future, bringing a revolutionary change in the perspective of a treatment regime. 相似文献
Journal of Porous Materials - The transformation of light naphtha to value-added aromatic compounds is gaining momentum in the petrochemical industry. In this work, a series of metal modified... 相似文献
Biogenic nanoarchitectured magnetic materials have drawn serious attention throughout the last decade. We have attempted the Helleborus niger flower extract functionalized and templated biogenic synthesis of Cu nanoparticles supported Fe3O4 as a likewise novel material. The plant phytomolecules were deployed as a non-toxic sustainable reductant and an outstanding capping agent to stabilize the synthesized NPs. The synthesized Cu/H.niger@Fe3O4 nanocomposite was undergone comprehensive characterizations through Fourier transformed infrared spectroscopy (FT-IR), electron microscopy (SEM and TEM), energy dispersive X-ray spectroscopy (EDX), elemental mapping, vibrating sample magnetometer (VSM), X-ray diffraction (XRD) and inductively coupled plasma (ICP) techniques. The material was catalytically explored in the synthesis of diverse pyrano[3,2-c]chromene derivatives by coupling 4-hydroxycoumarin, malononitrile and a range of aldehydes in hot water when it afforded excellent yields. Based on its core magnetism, the catalyst was easily recovered using a magnet and reused for 8 successive times without considerable loss in catalytic activity. After the chemical application, the synthesized Cu/H.niger@Fe3O4 nanocomposite was engaged in biological assays like study of anti-oxidant properties by DPPH mediated free radical scavenging test using BHT as a reference molecule. Thereafter, on having a significant IC50 value in radical scavenging assay, we extended the bio-application of the desired nanocomposite in anticancer study of A549 and H358 human lung cell lines in-vitro through MTT assay. The cell viability of malignant lung cell line reduced dose-dependently in the presence of desired nanocomposite. So, these results suggest that synthesized Cu/H.niger@Fe3O4 as a chemotherapeutic nanomaterial have a suitable anticancer activity against lung cell lines.
Heat shock proteins are ubiquitous, induced under a number of environmental and metabolic stresses, with highly conserved DNA sequences among mammalian species. Camelus dromedaries (the Arabian camel) domesticated under semi-desert environments, is well adapted to tolerate and survive against severe drought and high temperatures for extended periods. This is the first report of molecular cloning and characterization of full length cDNA of encoding a putative stress-induced heat shock HSPA6 protein (also called HSP70B') from Arabian camel. A full-length cDNA (2417 bp) was obtained by rapid amplification of cDNA ends (RACE) and cloned in pET-b expression vector. The sequence analysis of HSPA6 gene showed 1932 bp-long open reading frame encoding 643 amino acids. The complete cDNA sequence of the Arabian camel HSPA6 gene was submitted to NCBI GeneBank (accession number HQ214118.1). The BLAST analysis indicated that C. dromedaries HSPA6 gene nucleotides shared high similarity (77-91%) with heat shock gene nucleotide of other mammals. The deduced 643 amino acid sequences (accession number ADO12067.1) showed that the predicted protein has an estimated molecular weight of 70.5 kDa with a predicted isoelectric point (pI) of 6.0. The comparative analyses of camel HSPA6 protein sequences with other mammalian heat shock proteins (HSPs) showed high identity (80-94%). Predicted camel HSPA6 protein structure using Protein 3D structural analysis high similarities with human and mouse HSPs. Taken together, this study indicates that the cDNA sequences of HSPA6 gene and its amino acid and protein structure from the Arabian camel are highly conserved and have similarities with other mammalian species. 相似文献
The effect of the type and the amount of hardeners, such as ammonium nitrate, ammonium carbonate and nitric acid on the molasses bonded briquettes prepared from anthracite fines or coke breeze were investigated. Amongst the hardener studied the best results were obtained with 2.5% ammonium nitrate hardener. The briquettes produced with this hardener were highly water resistant but not waterproof and their tensile strengths were not adequate to be used as a substitute for the metallurgical coke. Therefore, the briquettes were prepared with molasses containing 2.5% ammonium nitrate hardener and air blown coal tar pitch blended binder. When the blended binder was used for the production of anthracite fines or coke breeze briquettes, after curing at 200 °C for 2 h, they became waterproof and their tensile strengths were found to be sufficient to be used as a substitute for coke oven coke. The briquettes after curing could be directly charged into the blast furnace without carbonizing them at high carbonization temperatures. Since molasses and coal tar pitch, are relatively cheap and readily available materials, the process investigated could be economical way of producing high quality formed coke. 相似文献
Evaluation of abundantly available agro-industrial by-products for their bioactive compounds and biological activities is beneficial in particular for the food and pharmaceutical industries. In this study, rapeseed meal, cottonseed meal and soybean meal were investigated for the presence of bioactive compounds and antioxidant, anti-inflammatory, xanthine oxidase and tyrosinase inhibitory activities. Methanolic extracts of rapeseed meal showed significantly (P < 0.01) higher phenolics and flavonoids contents; and significantly (P < 0.01) higher DPPH and nitric oxide free radical scavenging activities when compared to that of cottonseed meal and soybean meal extracts. Ferric thiocyanate and thiobarbituric acid tests results showed rapeseed meal with the highest antioxidant activity (P < 0.01) followed by BHT, cotton seed meal and soybean meal. Rapeseed meal extract in xanthine oxidase and tyrosinase inhibitory assays showed the lowest IC(50) values followed by cottonseed and soybean meals. Anti-inflammatory assay using IFN-γ/LPS stimulated RAW 264.7 cells indicated rapeseed meal is a potent source of anti-inflammatory agent. Correlation analysis showed that phenolics and flavonoids were highly correlated to both antioxidant and anti-inflammatory activities. Rapeseed meal was found to be promising as a natural source of bioactive compounds with high antioxidant, anti-inflammatory, xanthine oxidase and tyrosinase inhibitory activities in contrast to cotton and soybean meals. 相似文献
In this paper, a study on the development of a numerical modeling of the detonation of C H N O‐based gaseous explosives is presented. In accordance with the numerical model, a FORTRAN computer code named GasPX has been developed to compute both the detonation point and the detonation properties on the basis of Chapman–Jouguet (C‐J) theory. The determination of the detonation properties in GasPX is performed in chemical equilibrium and steady‐state conditions. GasPX has two improvements over other thermodynamic equilibrium codes, which predict steady‐state detonation properties of gaseous explosives. First, GasPX employs a nonlinear optimization code based on Generalized Reduced Gradient (GRG) algorithm to compute the equilibrium composition of the detonation products. This optimization code provides a higher level of robustness of the solutions and global optimum determination efficiency. Second, GasPX can calculate the solid carbon formation in the products for gaseous explosives with high carbon content. Detonation properties such as detonation pressure, detonation temperature, detonation energy, mole fractions of species at the detonation point, etc. have been calculated by GasPX for many gaseous explosives. The comparison between the results from this study and those of CEA code by NASA and the experimental studies in the literature are in good agreement. 相似文献
Propylsulfonic acid-functionalized partially crystalline silicalite-1 materials were synthesized via one step co-condensation technique by varying the molar ratio of organosilane source, 3-mercaptopropyltrimethoxysilane (3MP) to tetraethylorthosilicate (TEOS) in the range of 0.05–0.30, and subsequent oxidation of thiol group to propylsulfonic acid using hydrogen peroxide (H2O2). These materials were characterized by X-ray diffraction (XRD), high resolution transmission electron microscopy (HRTEM), scanning electron microscopy (SEM) and nitrogen adsorption–desorption method. The structure of these materials was determined by Fourier transform infrared spectroscopy (FT-IR) and 29Si and 13C solid state NMR. XRD results show that % crystallinity of the materials decreased with the increase in 3MP concentration in the synthesis mixture. Selected area electron diffraction (SAED) showed the presence of crystalline and amorphous phases in the samples. An amorphous phase was formed when 3MP concentration was 30 mol% of the total silica source. After elimination of the structure directing agent (SDA) by calcination at 420 °C, thermogravimetric analysis (TGA) shows that the structure was thermally stable up to 550 °C. Ammonia temperature-programmed desorption (NH3-TPD) shows that the acid capacity of these materials was in the range of 1.19–1.83 mmol H+/g, which shows that these materials could be used as potential heterogeneous acid catalyst. 相似文献