A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family

Shi Yuting,Fu Yimei,Tao Zhouteng,Yong Wenjing,Peng Huirong,Jian Wenyang,Chen Gang,Guo Manhui,Zhao Yanhua,Yao Ruojin,Guo Dewei 한국유전학회 2023 Genes & Genomics Vol.45 No.3

Background Walker-Warburg syndrome (WWS) is a genetically heterogeneous disease that often presents with complex brain and eye malformations and congenital muscular dystrophy. Mutations of the ISPD gene have been identified as one of the most frequent causes of WWS. Objective The current study aimed to identify the cause of severe congenital hydrocephalus and brain dysplasia in our subject. Methods Genomic DNA was extracted from the fetus's umbilical cord blood and peripheral venous blood of the parents. The genetic analysis included whole-exome sequencing and qPCR. Additionally, in silico analysis and cellular experiments were performed. Results We identified a novel homozygous deletion of exons 7 to 9 in the ISPD gene of the fetus with WWS. In silico analysis revealed a defective domain structure in the C-terminus domain of the ISPD. Analysis of the electrostatic potential energy showed the formation of a new binding pocket formation on the surface of the mutant ISPD gene (ISPD-del ex7-9). Cellular study of the mutant ISPD revealed a significant change in its cellular localization, with the ISPD-del ex7-9 protein translocating from the cytoplasm to the nucleus compared to wild-type ISPD, which is mostly present in the cytoplasm. Conclusion The present study expands the mutational spectrum of WWS caused by ISPD mutations. Importantly, our work suggests that whole-exome sequencing could be considered as a diagnostic option for fetuses with congenital hydrocephalus and brain malformations when karyotype or chromosomal microarray analysis fails to provide a definitive diagnosis.

Experimental Investigation and Modeling on Residual Stress of Welded Steel Circular Tubes

Gang Shi,Xue Jiang,Wenjing Zhou,Tak-Ming Chan,Yong Zhang 한국강구조학회 2013 International Journal of Steel Structures Vol.13 No.3

To investigate the residual stress of welded steel circular tubes, an experimental program including 9 different sectional dimensions and different steel strength specimens were described in which sectioning method was employed. Based on large quantities of original test data, the residual stress distribution and the magnitudes of these different specimens were obtained,and the effects of the diameter to thickness ratio, the steel strength and hot galvanizing process as well as welding types were analysed. It was found that the residual stress distribution of high strength steel welded tubes was flatter than the ones of ordinary steel tubes, and galvanizing process decreased the maximum residual tensile stress. Finally, the residual stress distribution model for steel welded circular tube sections was proposed which showed good agreement with the test results. Meanwhile, the finite element verification was carried out which provided reference for the future FEA of column buckling of high strength steel circular tubes. The research results provide foundation for the future study on the column buckling of welded steel circular tubes.

Local Buckling of Steel Equal Angle Members with Normal and High Strengths

Gang Shi,Wenjing Zhou,Yu Bai,Zhao Liu 한국강구조학회 2014 International Journal of Steel Structures Vol.14 No.3

Steel angle sections have been widely accepted with the development of steel structures, and such members made by highstrength steel (HSS) sections are also increasingly used in buildings and bridges, and especially in transmission towers and longspan trusses. Compared to normal strength steels, HSS exhibits different mechanical properties, which can cause different localbuckling behavior. A finite element analysis (FEA) was performed in this paper to investigate the local buckling of steel equalangle members with different strengths under axial compression, where the residual stresses and the initial geometricimperfections of specimens were accurately described. Through this work, the relationship of the ultimate local buckling stressof steel equal angle members under axial compression as a function of steel strength and width-to-thickness ratio wasestablished. By comparing the FEA results with the international design specifications (ANSI/AISC 360-10 and Eurocode 3),a modified design formula was developed and corresponding design suggestions were proposed, to take into account the effectsof steel strength.

Protective Effects of Aqueous Extract of Radix Isatidis on Lipopolysaccharide-Induced Sepsis in C57BL/6J Mice

Deqing Ruan,Wenjing Liu,Yanhong Shi,Menghui Tan,Li Yang,Zhengtao Wang,Yue Zhou,Rui Wang 한국식품영양과학회 2020 Journal of medicinal food Vol.23 No.1

Endotoxic shock exhibits a considerably high mortality risk. It is defined as a systemic inflammatory response syndrome caused by a microbial infection. Radix Isatidis has anti-inflammatory, antiviral, and antipyretic effects and is used worldwide. This study investigated the antiendotoxin sepsis effects of an aqueous R. Isatidis extract (RIE) and explored the possible pharmacological molecular mechanisms. Male C57BL/6J mice were intravenously injected with 15 mg/kg lipopolysaccharide (LPS) to induce endotoxic shock. The results demonstrated that the survival rate of mice pretreated with RIE increased, and LPS-induced liver and lung damage were reduced by inhibiting inflammation. For elucidating detailed molecular mechanisms, we focused on LPS-induced transcription factors: nuclear factor-κB (NF-κB) and interferon regulatory factor 3 (IRF3). Our results demonstrated that the protective effects of RIE were strongly dependent on IRF3-induced interferon-β, not on NF-κB-induced tumor necrosis factor-α and interleukin-1β. In addition, RIE suppressed the phosphorylation of IRF3, not NF-κB. In conclusion, this study revealed the antiendotoxic properties of RIE on LPS-induced sepsis and provided mechanistic evidence for the beneficial effects of RIE.

Cosmogenic nuclides (10Be and 26Al) erosion rate constraints in the Badain Jaran Desert, northwest China: implications for surface erosion mechanisms and landform evolution

Tong Zhao,Wenjing Liu,Zhifang Xu,Taoze Liu,Sheng Xu,Lifeng Cui,Chao Shi 한국지질과학협의회 2019 Geosciences Journal Vol.23 No.1

Both tectonics and climate affect surface erosion and change the landform. Long-term surface erosion rates determined by in situ produced cosmogenic nuclides are useful quantitative constraints for landform evolution in geological time scale. Measurements of cosmogenic 10Be and 26Al in the granitic rocks exposed in the Badain Jaran Desert, give a mean erosion rate of 7.3 ± 2.6 m/Ma, which is an order of magnitude higher than those reported in other extremely arid regions. Tectonic activity is supposed to be the first order control on regional erosion rate by comparing the 10Be erosion rates of arid regions with different precipitation ranges and tectonic activities worldwide. However the higher erosion rates in the Badain Jaran Desert compared with other arid regions within the stable tectonic background were attributed to the wind erosion and periodically warmer and wetter climate since late Pleistocene. Besides, the estimated eroded mass flux of 7.8 × 104 t/y suggests that erosion products of bedrocks in the Badian Jaran Desert only contribute minor desert deposits, which indicates massive exogenous materials input to the desert.

Effects of three drying methods on polyphenol composition and antioxidant activities of Litchi chinensis Sonn.

Si Tan,Jianmin Tang,Wenjing Shi,Zhuwei Wang,Yuanyuan Xiang,Tingwei Deng,Xiaoxu Gao,Wenfeng Li,Shengyou Shi 한국식품과학회 2020 Food Science and Biotechnology Vol.29 No.3

The aim of this study was to investigate the effects of three different drying methods, freeze drying (FD), vacuum drying (VD) and oven drying (OD) on phenolic contents and antioxidant activities of litchi fruits. 20 polyphenols were exactly identified in the litchi fruits by UPLC-QqQ/MS. Significant losses were observed in the contents of total polyphenols and antioxidant activities in the dried litchi when compared with the fresh litchi. Principle component analysis indicated that there was significant difference of phenolic component between the use of thermal drying (VD and OD) and FD. Our results suggest that FD is the optimum drying method for litchi fruits considering the content of total polyphenols and antioxidant activities.

The Associations of Family Functioning, General Well-Being, and Exercise with Mental Health among End-Stage Renal Disease Patients

Qi Wang,Hongjian Liu,Zheng Ren,Wenjing Xiong,Minfu He,Nan Li,Xinwen Fan,Xia Guo,Xiangrong Li,Hong Shi,Shuang Zha,Xiumin Zhang 대한신경정신의학회 2020 PSYCHIATRY INVESTIGATION Vol.17 No.4

Objective This study aims to explore the relationships of family functioning, general well-being, and exercise with psychological distress. Furthermore, we investigated the special roles of general well-being and exercise on the association between family functioning and psychological distress. Methods Of 769 end-stage renal disease (ESRD) patients participated in the cross-sectional study which consisted of the 12-item General Health Questionnaire (GHQ-12), the Family APGAR Scales, and the General Well-Being Schedule. The collected data were analyzed using multiple linear regression analysis and path analysis. Results The prevalence of psychological distress was 72.3%. Family functioning, general well-being and exercise were associated factors of psychological distress (p<0.05). The indirect effect of family functioning on psychological distress was partially mediated by general well-being (Effect=-0.08, 95% CI=-0.11, -0.04). In addition, the effect of family functioning on general well-being was moderated by exercise (Index=-0.092, SE=0.033, 95% CI=-0.159, -0.029). Conclusion The prevalence of psychological distress among ESRD patients was high. Family functioning, general well-being and exercise were associated with psychological distress. Family functioning could affect psychological distress partially by affecting general wellbeing. Furthermore, exercise had a significant moderating effect on the relationship between family functioning and general well-being.

Helicobacter pylori-Induced Progranulin Promotes the Progression of the Gastric Epithelial Cell Cycle by Regulating CDK4

Ren Zongjiao,Li Jiayi,Du Xianhong,Shi Wenjing,Guan Fulai,Wang Xiaochen,Wang Linjing,Wang Hongyan 한국미생물·생명공학회 2022 Journal of microbiology and biotechnology Vol.32 No.7

Helicobacter pylori, a group 1 carcinogen, colonizes the stomach and affects the development of stomach diseases. Progranulin (PGRN) is an autocrine growth factor that regulates multiple cellular processes and plays a tumorigenic role in many tissues. Nevertheless, the mechanism of action of PGRN in gastric cancer caused by H. pylori infection remains unclear. Here, we investigated the role of PGRN in cell cycle progression and the cell proliferation induced by H. pylori infection. We found that the increased PGRN was positively associated with CDK4 expression in gastric cancer tissue. PGRN was upregulated by H. pylori infection, thereby promoting cell proliferation, and that enhanced level of proliferation was reduced by PGRN inhibitor. CDK4, a target gene of PGRN, is a cyclin-dependent kinase that binds to cyclin D to promote cell cycle progression, which was upregulated by H. pylori infection. We also showed that knockdown of CDK4 reduced the higher cell cycle progression caused by upregulated PGRN. Moreover, when the PI3K/Akt signaling pathway (which is promoted by PGRN) was blocked, the upregulation of CDK4 mediated by PGRN was reduced. These results reveal the potential mechanism by which PGRN plays a major role through CDK4 in the pathological mechanism of H. pylori infection.

The physicochemical, antioxidant, hypoglycemic and prebiotic properties of γ-irradiated polysaccharides extracted from Lentinula edodes

Chaomin Yin,Chen Li,Kun Ma,Xiuzhi Fan,Fen Yao,Defang Shi,Wenjing Wu,Jianhui Qiu,Guoyuan Hu,Hong Gao 한국식품과학회 2023 Food Science and Biotechnology Vol.32 No.7

In this study, the influence of γ-irradiation with different dose (0, 4, 8, and 16 kGy) on chemical composition, physicochemical features and bioactivities of polysaccharides extracted from Lentinula edodes (LEP) were investigated. The carbohydrate content (from 59.47 to 70.96%), the solubility, the ⋅OH and DPPH scavenging ability of LEP increased with the increased γ-irradiation dose, while the protein content, the weight-average and number-average molecular weight of LEP were significantly decreased with the increased γ-irradiation dose. Moreover, γ-irradiation treatment caused LEP color changes and surface topography destroyed. γ-Irradiated LEP showed higher hypoglycemic activities in vitro than that of non-irradiated LEP. Moreover, γ-irradiated LEP had better proliferation promoting effects on Lactobacillus rhamnosus and L. plantarum. These results showed that γ-irradiation treatment changes the physicochemical features of LEP, thus affects its antioxidant, hypoglycemic and prebiotic properties, which suggests that γ-irradiated LEP has potential application in the pharmaceutical industries and functional foods.

The Role of Polarization Coulomb Field Scattering in the Electron Mobility of AlGaN/AlN/GaN Heterostructure Field-effect Transistors

Yan Liu,Zhaojun Lin,Jingtao Zhao,Ming Yang,Wenjing Shi,Yuanjie Lv,Zhihong Feng 한국물리학회 2016 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.68 No.7

The electron mobility for the prepared AlGaN/AlN/GaN heterostructure field-effect transistor (HFET) with the ratio of the gate length to the drain-to-source distance being less than 1/2 has been studied by comparing the measured electron mobility with the theoretical value. The measured electron mobility is derived from the measured capacitance-voltage (C-V) and current-voltage (I-V) characteristics, and the theoretical mobility is determined by using Matthiessen’s law, involving six kinds of important scattering mechanisms. For the prepared device at room temperature, longitudinal optical phonon scattering (LO scattering) was found to have a remarkable effect on the value of the electron mobility, and polarization Coulomb field scattering (PCF scattering ) was found to be important to the changing trend of the electron mobility versus the two-dimensional electron gas (2DEG) density.