Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants

Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: To report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 variants. Methodology: We recruited 28 patients with non-syndromic oligodontia who were admitted to the Hospital of Stomatology Hebei Medical University (China) from 2018 to 2021. Peripheral blood was collected from the probands and their core family members for whole-exome sequencing (WES) and variants were verified by Sanger sequencing. Bioinformatics tools were used to predict the pathogenicity of the variants. SWISS-MODEL homology modeling was used to analyze the three-dimensional structural changes of variant proteins. We also analyzed the genotype-phenotype relationships of PAX9 variants. Results: We identified novel compound heterozygous PAX9 variants (reference sequence NM_001372076.1) in a Chinese family with non-syndromic oligodontia: a new missense variant c.1010C>A (p.T337K) in exon 4 and a new frameshift variant c.330_331insGT (p.D113Afs*9) in exon 2, which was identified as the pathogenic variant in this family. This discovery expands the known variant spectrum of PAX9; then, we summarized the phenotypes of non-syndromic oligodontia with PAX9 variants. Conclusion: We found that PAX9 variants commonly lead to loss of the second molars

An 8-week ketogenic diet improves exercise endurance and liver antioxidant capacity after weight loss in obese mice

Evolving evidence supports the role of the ketogenic diet (KD) in weight loss. However, no coherent conclusions are drawn on its impact on the effect of KD on exercise and antioxidant capacity after weight loss in obese individuals. We evaluated the exercise performance, energy metabolism and antioxidant capacity of mice after weight loss using high-fat diet-induced obese mice, and used KD and normal diet (ND) intervention, respectively, to provide a theoretical basis for further study of the health effects of KD. Our results showed that the 8-week KD significantly reduced the body weight of obese mice and improved the performance of treadmill exercise, but had no significant effect on grip strength. Serum biochemical results suggest that KD has the risk of elevating blood lipid. In liver tissue, KD significantly reduced the level of oxidative stress and increased the antioxidant capacity of the liver. Our findings suggest that the intervention with KD led to weight loss, modulate energy metabolism and improve aerobic exercise endurance in obese mice. Despite its antioxidant potential in the liver, the utilization of KD still requires caution. This study underscores the need for further investigation into the health impacts of KD, especially in regard to its potential risks

Chemically/Magnetically Dual-Responsive Nanoparticles for Multipurpose Colorimetric Sensor

Magnetically responsive colloidal photonic crystals can change their structural color according to the external magnetic field, which has been widely studied in recent years. However, due to lack of recognition ability towards non-magnetic analytes, these photonic crystals can be applied to constructing a sensor only when an additional stimuli responsive unit is involved. To address this problem, we used a functional protein to modify the magnetically responsive colloidal particles to construct chemically/magnetically dualresponsive nanoparticles. For a proof of concept research in this manuscript, we modified the colloidal particles with streptavidin, and the as obtained nanoparticles were used to detect biotinylated protein via a binding and assembling strategy, which is impossible for conventional photonic crystal sensors. Not only qualitative and quantitative detections were achieved, but also the average diameters of the biotinylated protein were correctly estimated. These results have demonstrated a multipurpose detection feature of our proposed colorimetric sensor

Genetic diversity and population structure of the endangered Japanese sea cucumber (Apostichopus japonicus) in natural seas of northern China

Overfishing and habitat destruction have decimated wild sea cucumber (Apostichopus japonicus) stocks, causing this species to become endangered. Several conservation measures have been implemented to assist in the recovery of A. japonicus. Due to the low efficiency of conventional domestication methods and the current prevalence of bottom-sowing culture in marine ranches, it is urgent to evaluate the genetic diversity and population structure of sea cucumber geographical groups in the natural seas of northern China using genome-wide molecular markers. In this study, six sea cucumber geographical groups were collected from marine ranches in Shandong, Hebei, and Liaoning provinces. A total of 18,191 high-quality genome-wide single nucleotide polymorphisms (SNPs) were identified in 70 A. japonicus individuals using 2b-RAD technology. These SNPs were used to assess the genetic diversity and population structure of the six groups. Compared with previous studies, these six geographical groups showed much lower levels of genetic diversity both among and between groups, with all individuals clustering into one population. These findings demonstrate the necessity of continuous genetic monitoring of A. japonicus in the natural seas of northern China. Furthermore, this study serves as a valuable reference for future genome-assisted breeding and germplasm improvement in this economically critical species

The Modification of a Tetrafunctional Epoxy and Its Curing Reaction

Recent experimental results showed that the Tg of cured resin scarcely decreased and the impact strength of resins increased by over 50% when a tetrafunctional epoxy named N,N,N\u27,N\u27-tetraglycidyl-4,4\u27-diaminodiphenyl ether (TGDDE) was introduced to an appropriate flexible chain from a dimer fatty acid (DFA). In order to understand the reason for this phenomenon, the modification and the chemical structure of the prepolymer together with the curing reaction and the viscoelasticity of the cured resins were studied in detail in the present work. The results indicated that the modification would help the prepolymer improve its molecular mobility. As a result, the resins could be further cured, resulting in the cross-linking density increasing. This is because the curing efficiency was increased, but the tetrafunctional epoxy was not cured completely due to its large steric hindrance. Moreover, the flexibility of some parts of the networks was improved, which was beneficial for the toughness of the cured resins. Therefore, the toughness of the tetrafunctional resin was improved with little influence on the thermal properties when the epoxies were modified with an appropriate content of DFA

The Effects of Demecolcine, Alone or in Combination with Sucrose on Bovine Oocyte Protrusion Rate, MAPK1 Protein Level and C-Mos Gene Expression Level

Aims: Our study aims to clarify the effects of demecolcine, alone or in combination with sucrose on bovine oocyte protrusion rate, MAPK1 protein level and c-mos gene expression level. Methods: The effects of the demecolcine concentration, treatment duration, and synergistic effects with sucrose solution on the rate of membrane protrusions of bovine oocytes were investigated. Using real-time fluorescent quantitative PCR, western blot analysis, and immunofluorescence assays, the expression of the maternal c-mos gene, the protein level of mitogen-activated protein kinase 1 (MAPK1), and the change in the localization of spindles and nuclei during the demecolcine treatment were analyzed in bovine oocytes. Results: Treatment of bovine oocytes with both demecolcine (0.6 μg/mL) and sucrose (0.05 M) for 1 h led to the highest rate of membrane protrusions, and synergistic effects were also observed. Real-time fluorescent quantitative PCR analysis revealed that the demecolcine treatment up-regulated the expression of the maternal c-mos gene. Western blot analysis indicated that the demecolcine treatment enhanced the protein level of MAPK1 in bovine oocytes. Immunofluorescence analysis indicated that the spindles and nuclei were localized at the place of the membrane protrusions. Conclusions: The present results suggest that demecolcine might contribute to the activation of the Mos/MAPK pathway and affect spindle structure. These results provide a reference for more efficient generation of enucleated bovine oocytes

Ketogenic Diet Combined with Moderate Aerobic Exercise Training Ameliorates White Adipose Tissue Mass, Serum Biomarkers, and Hepatic Lipid Metabolism in High-Fat Diet-Induced Obese Mice

Obesity is a serious public health issue worldwide. Growing evidence demonstrates the efficacy of the ketogenic diet (KD) for weight loss, but there may be some adverse side effects such as dyslipidemia and hepatic steatosis. Aerobic exercise is a widely recognized approach for improving these metabolic markers. Here we explored the combined impacts of KD and moderate aerobic exercise for an 8-week intervention on body weight and fat loss, serum biomarkers, and hepatic lipid metabolism in a mouse model of high-fat diet-induced obesity. Both KD and KD combined with exercise significantly reduced body weight and fat mass. No significant adverse effects of KD were observed in serum biomarkers or hepatic lipid storage, except for an increase in circulating triglyceride level. However, aerobic exercise lowered serum triglyceride levels, and further ameliorated serum parameters, and hepatic steatosis in KD-fed mice. Moreover, gene and protein expression analysis indicated that KD combined with exercise was associated with increased expression of lipolysis-related genes and protein levels, and reduced expression of lipogenic genes relative to KD without exercise. Overall, our findings for mice indicate that further work on humans might reveal that KD combined with moderate aerobic exercise could be a promising therapeutic strategy for obesity

Thermal radiation control from hot graphene electrons coupled to a photonic crystal nanocavity

Controlling thermal radiation is central in a range of applications including sensing, energy harvesting, and lighting. The thermal emission spectrum can be strongly modified through the electromagnetic local density of states (EM LDOS) in nanoscale-patterned metals and semiconductors. However, these materials become unstable at high temperature, preventing improvements in radiative efficiency and applications such as thermophotovoltaics. Here, we report stable high-temperature thermal emission based on hot electrons (>2000 K) in graphene coupled to a photonic crystal nanocavity, which strongly modifies the EM LDOS. The electron bath in graphene is highly decoupled from lattice phonons, allowing a comparatively cool temperature (700 K) of the photonic crystal nanocavity. This thermal decoupling of hot electrons from the LDOS-engineered substrate opens a broad design space for thermal emission control that would be challenging or impossible with heated nanoscale-patterned metals or semiconductor materials. Keywords: Nanophotonics and plasmonics; Optical properties and devices; Photonic crystalsUS Office of Naval Research (Grant N00014-13-1-0662)Army Research Office (Grant 16112776