Exome Sequencing Identified a Recessive RDH12

Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family) and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437T<A (p.V146D) in the retinol dehydrogenase 12 (RDH12) gene, which encodes an NADPH-dependent retinal reductase, was identified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T<A (p.V146D) substitution in RDH12 and provide further support for the causative role of this mutation in the pathogenesis and clinical diagnosis of RP

Genome-wide transcriptome analysis reveals the molecular mechanism of high temperature-induced floral abortion in Litchi chinensis

Abstract Background Warm winter and hot spring attributed to global warming affected floral development and may induce floral abortion, resulted in poor flowering in litchi. To identify genes potentially involved in litchi floral abortion, six RNA-sequencing (RNA-Seq) libraries of the developing panicles (DPs) under low temperature (LT) conditions and the shrinking panicles (SPs) under high temperature (HT) conditions were constructed. Results 3.07–8.97 × 106 clean reads were generated. Digital expression of the DPs with that of the SPs was compared. As a result, 1320 up-regulated and 981 down-regulated differentially expressed genes (DEGs) were identified. From the enriched GO-term, 54 temperature responsive DEGs, 23 hormone homeostasis- or biosynthesis-related DEGs, 137 hormone signal transduction or responsive DEGs, and 18 flowering-related DEGs were identified. Partial Least Squares Structural Equation Modeling (PLS-SEM) analysis indicated that the effects of hormone-related DEGs on NACs, MYBs, WRKYs were stronger than that on flowering-related DEGs. Expression pattern analysis of the inflorescence in ‘Nuomici’ and ‘Huaizhi’ under LT and HT conditions showed that genes homologous to AIL6 (LcAIL6), LHY (LcLHY), MED16 (LcMED16), SKIP20 (LcSKIP20), POD20 (LcPOD20) in the two cultivars had similar expression trends. Conclusion This study elucidated the transcriptome in the HT-induced floral abortion and identified key genes involved in the process. NACs, MYBs, WRKYs may act as central players involved in the HT-induced floral abortion underlying hormonal control. Increased transcript in LcLHY, LcMED16, LcSKIP20, LcPOD20 and decreased transcript in LcAIL6 might be related to the inhibition of floral development. Our studies provided potential genes for the future molecular breeding of new cultivars that can reduce floral abortion under warm climates, and a novel clue to reveal the relationship of biological processes based on the RNA-seq data using PLS-SEM

Genetic distance and cross-border M&A completion: Evidence from Chinese firms

Using data drawn from Chinese firms from 1996 to 2019, we explored the effect of genetic distance on the completion of cross-border merger and acquisition (M&A). We found an inverted U-shaped relationship between genetic distance and cross-border M&A completion. Further research showed that this relationship is moderated by heterogeneity at the firm-, industry-, and country-levels. In particular, when the acquirer is a foreign-listed company and the host country institution is of good quality, genetic distance has a linear positive effect on M&A completion. When the acquirer belongs to the high-tech industry and the two countries involved have not signed any bilateral investment treaties, the effect of genetic distance is not significant. Our study sheds light on the impact of genetic distance on cross-border M&A completion and enriches the related theoretical perspective. Our findings also have a certain practical value

Properties and Applications of High Emissivity Composite Films Based on Far-Infrared Ceramic Powder

Polymer matrix composite materials that can emit radiation in the far-infrared region of the spectrum are receiving increasing attention due to their ability to significantly influence biological processes. This study reports on the far-infrared emissivity property of composite films based on far-infrared ceramic powder. X-ray fluorescence spectrometry, Fourier transform infrared spectroscopy, thermogravimetric analysis, and X-ray powder diffractometry were used to evaluate the physical properties of the ceramic powder. The ceramic powder was found to be rich in aluminum oxide, titanium oxide, and silicon oxide, which demonstrate high far-infrared emissivity. In addition, the micromorphology, mechanical performance, dynamic mechanical properties, and far-infrared emissivity of the composite were analyzed to evaluate their suitability for strawberry storage. The mechanical properties of the far-infrared radiation ceramic (cFIR) composite films were not significantly influenced (p ≥ 0.05) by the addition of the ceramic powder. However, the dynamic mechanical analysis (DMA) properties of the cFIR composite films, including a reduction in damping and shock absorption performance, were significant influenced by the addition of the ceramic powder. Moreover, the cFIR composite films showed high far-infrared emissivity, which has the capability of prolonging the storage life of strawberries. This research demonstrates that cFIR composite films are promising for future applications

Malleability and Physicochemical Properties of Industrial Sheet Margarine with Shea Olein after Interesterification

The malleability of Industrial Sheet Margarine (ISM) is essential for the formation of consistent layered structures of pastry products. However, there is limited reporting on how to improve the malleability of ISM with zero trans fatty acids (TFA) at an industrial production scale. Therefore, herein, Shea Olein (SHOL), rich in stearic acid C18:0, was employed as a value-added formulation ingredient to replace palm olein (POL) in palm-based formula (palm stearin:palm kernel olein:palm olein, 50:15:35, w/w/w) and the chemical interesterification (CIE) fat as ISM material was performed to improve the application performance. The addition of SHOL improved the crystallization characteristics by increasing the β’ crystal content from 70.86% to 92.29% compared with a POL-added formula. The hardness of the two formulations after CIE decreased by 60% and 65%, respectively, compared with that before CIE due to the decrease of PPP and POP, and the increase of POS and PSS triacylglycerols. Melting profiles, polymorphism, and crystal structures systematically proved the bending and sheeting features and functional properties. The bending abilities and malleability of ISM with SHOL and CIE fats were significantly improved, resulting in a more conducive application performance. The study provided a practical approach to improving the malleability of ISM in industrial-level production

Surface modification and characterization of carbon spheres by grafting polyelectrolyte brushes

Modified carbon spheres (CSPBs) were obtained by grafting poly(diallyl dimethyl ammonium chloride) (p-DMDAAC) on the surface of carbon spheres (CSs). It can be viewed as a kind of cation spherical polyelectrolyte brushes (CSPBs), which consist of carbon spheres as core and polyelectrolytes as shell. The method of synthesizing carbon spheres was hydrothermal reaction. Before the polyelectrolyte brushes were grafted, azo initiator [4,4′-Azobis(4-cyanovaleric acyl chloride)] was attached to the carbon spheres' surface through hydroxyl groups. CSPBs were characterized by scanning electron microscope (SEM), Fourier transform infrared spectroscopy (FTIR), gel permeation chromatography (GPC), conductivity meter, and system zeta potential. The results showed that compared with carbon spheres, the conductivity and zeta potential on CSPBs increased from 9.98 to 49.24 μS/cm and 11.6 to 42.5 mV, respectively, after the polyelectrolyte brushes were grafted. The colloidal stability in water was enhanced, and at the same time, the average diameter of the CSPBs was found to be 173 nm, and the average molecular weight and grafted density of the grafted polyelectrolyte brushes were 780,138 g/mol and 4.026 × 10(9)/nm(2,) respectively

Titanium Dioxide Nanotube-Based Oxygen Indicator for Modified Atmosphere Packaging: Efficiency and Accuracy

Colorimetric oxygen indicators can be applied for non-destructive testing in packaging; especially in modified atmosphere packaging (MAP). In this paper; titanium dioxide (TiO2) nanotube; which is used as a semiconductor photocatalyst in oxygen indicators; was synthesized via a microwave-assisted hydrothermal method. X-Ray Diffraction (XRD) was used to analyze its crystal form and Scanning Electron Microscope (SEM).to characterize its morphology. Its properties were studied using Brunauer-Emmett-Teller (BET), Diffuse Reflection Spectrum (DRS), and Bluebottle experiments. The results showed that the synthesized TiO2 nanotube was a mixture of rutile and anatase; with a specific surface area of 190.35 m2/g; and a wide band gap of 3.34 eV. Given the satisfactory performance; the TiO2-based oxygen indicator was prepared and combined with glycerol; methylene blue; and hydroxyethyl cellulose (HEC). The oxygen indicator demonstrated excellent photocatalytic performance and effectively avoided excitation by visible light. We studied the rheological properties; thixotropic properties; and wettability of the indicator. The results demonstrated the printability of the indicator solution; which was then printed in the polyethylene terephthalate (PET) film by screen printing and applied to MAP. The application results showed that the prepared oxygen indicator was able to provide visual support to judge whether the packaging was intact and the food was safe

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

Abstract Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing. Results A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma. Conclusions A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family