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A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family

International Journal of Ophthalmology(English edition) 2018年第3期11卷 369-374页

作者： yi-hua Yao Ya-Qin Wang Wei-Fang Fang Liu Zhang Ju-hua Yang yi-hua zhu Department of Ophthalmology the First Affiliated Hospital of Fujian Medical University Fuzhou 350005 Fujian Province China Department of Ophthalmology Taihe Hospital Shiyan 442008 Hubei Province China Hubei University of Medicine Shiyan 442008 Hubei Province China Fuzhou Eye Hospital Fuzhou 350007 Fujian Province China Biomedical Engineering Center of Fujian Medical University Fuzhou 350004 Fujian Province China

AIM： To identify the mutations of MYOC, OPTN, CYPIB1 and WDR36 in a large Chinese family affected by juvenile open angle glaucoma （JOAG）. METHODS： Of 114 members of one family were recruited in this study. Blood samples from twelve members of this pedigree were collected for further research. As a control, 100 unrelated subjects were recruited from the same hospital. The exon and flanking intron sequences of candidate genes were amplified using the polymerase chain reaction and direct DNA sequencing. RESULTS： The proband （111：10） was a seventy-three years old woman with binocular JOAG at the age of 31. A recurrent heterozygous mutation （c.1099G〉A） of MYOC was identified in the three JOAG patients and another suspect. This transition was located in the first base pair of codon 367 （GGA〉AGA） in exon 3 of MYOC and was predicted to be a missense substitution of glycine to arginine （p.G367R） in myocilin. Mutations in OPTN, CYPIB1 or WDR36 were not detected in this study. The G367R mutation was not present in unaffected family members or in 100 ethnically matched controls. Other variants of the coding regions of candidate genes were not detected in all participants. To date, this family was the largest to have been identified as carrying a certain MYOC mutation in China, further evidence of a founder effect for the G367R MYOC mutant was provided by our data. CONCLUSION： A MYOC c.1099G〉A mutation in an autosomal dominant JOAG family is identified and the characteristic phenotypes among the patients are summarized. Genetic testing could be utilized in high-risk populations and be helpful not only for genetic counseling, but also for early diagnosis and treatment of affected patients or carriers of inherited JOAG.

关键词： MYOC gene mutantion glaucoma

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Effects of etanercept on the apoptosis of ganglion cells and expression of Fas, TNF-α, caspase-8 in the retina of diabetic rats

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International Journal of Ophthalmology(English edition) 2019年第7期12卷 1083-1088页

作者： Qin Ye Yu-Ni Lin Mao-Song Xie yi-hua Yao Shu-Min Tang Yan huang Xiao-Hui Wang yi-hua zhu Department of Ophthalmology the First Affiliated Hospital of Fujian Medical University Fuzhou 350005Fujian ProvinceChina XiaMen Haicang Hospital Xiamen 361026Fujian ProvinceChina Fijian Medical University Fuzhou 350005Fujian ProvinceChina

AIM: To evaluate the effects of etanercept on the expression of Fas, tumor necrosis factor-alpha(TNF-α) and caspase-8 in the early stage of the apoptotic pathway in diabetic rats, and to explore the therapeutic effect of etanercept on diabetic ***: A total of 60 Sprague-Dawley(SD) rats were randomly and evenly divided into 3 groups with 20 rats each, including control group, and diabetic groups with or without treatment. Streptozotocin(STZ)-induced diabetic rats were established for diabetic groups. Blood glucose and body weight were measured weekly. All the rats were sacrificed at the 12 wk after treatment. The expressions of Fas, TNF-α and caspase-8 in rat retina were quantitatively detected by PCR and Western blot. The leakage of Evan blue was adopted to measure the retinal vascular leakage quantitatively, and to compare it among different groups. TUNEL method was used to compare the amount of apoptotic bodies quantitatively in rat retina ganglion cells under electron ***: The expressions of Fas, TNF-α and caspase-8 in each group were compared via PCR and Western blot, in which the diabetic group with treatment was lower than those without treatment(P<0.01), but all the diabetic groups were higher than the control group(P<0.01). Evans blue leakage in the diabetic treatment group was lower than those without treatment(P<0.01), but those in the control group was the lowest compared with the other two groups(P<0.01). TUNEL method showed that the apoptoticbodies of retina in the diabetic treatment group was lower than those without treatment(P<0.01), while those in the control group was the lowest compared with the other two groups(P<0.01). CONCLUSION: Etanercept can effectively reduce the expression of Fas, TNF-α and caspase-8, as well as the retinal leakage and retinal cell apoptosis in diabetic rats.

关键词： etanercept ganglion cells Fas tumor necrosis factor-alpha caspase-8 apoptosis diabetes rat

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New insight into the origin and evolution of the flora and fauna of Hainan Island,China

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Science China Earth Sciences 2025年第1期68卷 52-61页

作者： hua zhu Center for Integrative Conservation Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesYunnan International Joint Laboratory of Southeast Asia Biodiversity ConservationYunnan Key Laboratory for the Conservation of Tropical Rainforests and Asian ElephantsMengla666303China

The origin of the biota of Hainan Island,China,remains a fundamental scientific *** studies on the biota,geological tectonics,and paleomagnetism proposed that during the Eocene,Hainan Island connected Vietnam and Guangxi,and then moved to the southeast to reach its present *** review mainly discusses its biota origin from molecular phylogeny and palaeobotanical *** formation and evolution of the biological groups of Hainan Island were identified via research on their genomes,phylogeny,and molecular *** research showed that the genera and species that appeared and diverged early in their evolution(i.e.,before the Miocene)can be explained by the land connection between Hainan Island,Vietnam,and Guangxi during the *** to Southeast Asian tectonic theory,in the Middle Miocene(at about 15 million years ago),Hainan Island had moved to its present *** population and genetic divergence of species with late divergence times(after 15 Ma)can be reasonably explained by the close proximity(or land connection)between Hainan Island and the Leizhou Peninsula,enabling genetic communication between Hainan Island and the Chinese mainland,but have exceptional *** have been obtained through palaeobotanical studies,showing that in the Eocene-Oligocene period,southwest China and Hainan Island had subtropical vegetation and ***,the fossil group in southeast China(in Maoming,near present-day Hainan Island)in the Late Eocene indicated a tropical rainforest vegetation and *** suggests that in the Paleogene,Hainan Island may have been located near or on the southwest border of Guangxi and northern Vietnam,rather than in its present *** floristic division of the flora of Hainan Island basically presents a northeast-southwest inclined distribution *** pattern can be explained by the counterclockwise rotation of Hainan Island during its movement to the southeast as prop

关键词： Molecular phylogeny Biogeography Paleobotany Origin of flora and fauna Hainan Island of China

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Abnormal function of EPHA2/p.R957P mutant in congenital cataract

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International Journal of Ophthalmology(English edition) 2024年第6期17卷 1007-1017页

作者： Jing-Jin Zhang Zong-Fu Cao Bi-Ting Zhou Ju-hua Yang Zhong Li Shuang Lin Xiao-Le Chen Nan-Wen Zhang Qin Ye Xu Ma yi-hua zhu Department of Ophthalmology the First Affiliated Hospital of Fujian Medical UniversityFujian Institute of OphthalmologyFujian Provincial Clinical Medical Research Center of Eye Diseases and OptometryFuzhou 350005Fujian ProvinceChina Department of Ophthalmology National Regional Medical CenterBinhai Campus of the First Affiliated HospitalFujian Medical UniversityFuzhou 350005Fujian ProvinceChina Chinese Academy of Medical Sciences&Peking Union Medical College Beijing 100000China National Human Genetic Resources Center National Research Institute for Family PlanningBeijing 100081China Department of Bioengineering and Biopharmaceutics School of PharmacyFujian Medical UniversityFuzhou 350004Fujian ProvinceChina

AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the ***:A four-generation Chinese family affected with autosomal dominant congenital cataract was *** individuals took part in this study including 5 affected and 14 unaffected *** sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant *** pathogenicity of the variant was evaluated by the guidelines of American College of Medical Genetics and InterVar *** microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2(EPHA2).Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane *** mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting assay,*** cell migration was analyzed by wound healing *** model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in ***:A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif(SAM)domain of *** studies demonstrated the variant’s impact:reduced EPHA2 protein expression,altered subcellular localization,and disrupted interactions with other lens membrane *** mutant notably enhanced human lens epithelial cell migration,and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast(DIC)***:Novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.

关键词： congenital cataract EPHA2 missense variant function analysis

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A recognition survey of granular corneal dystrophy type 2 genetic detection in China

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International Journal of Ophthalmology(English edition) 2020年第12期13卷 1976-1982页

作者： Xin-Rui Wang Bi-Ting Zhou Qing-Mei Zheng Ya-Duan Wang Qiu-Kai huang Xuan Song He Wang Nan-Wen Zhang yi-hua zhu Xiao-Le Chen Ju-hua Yang Department of Bioengineering and Biopharmaceutics School of PharmacyFujian Medical UniversityFuzhou 350122Fujian ProvinceChina Department of Ophthalmology the First Affiliated Hospital of Fujian Medical UniversityFuzhou 350122Fujian ProvinceChina School of Integrative Medicine Fujian University of Traditional Chinese MedicineFuzhou 350122Fujian ProvinceChina

AIM:To evaluate the feasibility of promoting genetic detection for granular corneal dystrophy type 2(GCD2)by a questionnaire conducted among citizens in five cities in ***:The data were collected by questionnaire,and analyzed by Chi-square test and one-tailed t test in IBM SPSS ***:Based on the survey data on the awareness of GCD2 genetic detection in this study and the positive predictive analysis report of the citizens in five cities in China,the vast majority(84.2%)of respondents had never heard of it and did not know that GCD2 patients have been prohibited from performing excimer surgery that can deteriorate GCD2 patients’condition even leading to *** 3.4%of patients understood GCD2 very much,they have no idea that GCD2 could not be 100%accuracy diagnosed by the conventional inspection ***:It is feasible and necessary to use GCD2 genetic detection as an excimer preoperative examination *** order to promote the development of detection project,a few improvements should be carried out in terms of the promoting efforts,costs,and research progress.

关键词： granular corneal dystrophy type 2 corneal opacity excimer laser surgery

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A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts

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International Journal of Ophthalmology(English edition) 2016年第11期9卷 1561-1567页

作者： Feng-Tao Dang Fa-Yu Yang Ye-Qin Yang Xiang-Lian Ge Ding Chen Liu Zhang Xin-Ping Yu Feng Gu yi-hua zhu Department of Ophthalmology the First Affiliated Hospital of Fujian Medical University Fuzhou 350005 Fujian Province China School of Ophthalmology and Optometry Eye HospitalWenzhou Medical University State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceMinistry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry Wenzhou 325027Zhejiang Province China School of Nursing Wenzhou Medical University Wenzhou 325000 Zhejiang Province China

AIM： To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified ***： Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by polymerase chain reaction（PCR） of the two reported genes（CRYAA and GJA8） which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for connexin 50（Cx50）, were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal ***： Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by PCR of the two reported genes（CRYAA and GJA8） which were linked to human total cataractsand direct sequencing of the PCR product. The molecular consequences of the identified mutation was *** plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for Cx50, were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy. CONCLUSION： This study has identified a novel cataract mutation in GJA8, which adds a novel mutation to the existing spectrum of Cx50 mutations with *** molecular consequences of p.F32 I mutation in GJA8 exclude instability and the mislocalization of mutant Cx50 protein.

关键词： cataracts mutation connexin 50 GJA8 molecular consequences

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SEFormer:A Lightweight CNN-Transformer Based on Separable Multiscale Depthwise Convolution and Efficient Self-Attention for Rotating Machinery Fault Diagnosis

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Computers, Materials & Continua 2025年第1期82卷 1417-1437页

作者： Hongxing Wang Xilai Ju hua zhu huafeng Li State Key Laboratory of Mechanics and Control for Aerospace Structures Nanjing University of Aeronautics and AstronauticsNanjing210016China School of Computer Science and Engineering Nanyang Technological UniversitySingapore639798Singapore

Traditional data-driven fault diagnosis methods depend on expert experience to manually extract effective fault features of signals,which has certain ***,deep learning techniques have gained prominence as a central focus of research in the field of fault diagnosis by strong fault feature extraction ability and end-to-end fault diagnosis ***,utilizing the respective advantages of convolution neural network(CNN)and Transformer in local and global feature extraction,research on cooperating the two have demonstrated promise in the field of fault ***,the cross-channel convolution mechanism in CNN and the self-attention calculations in Transformer contribute to excessive complexity in the cooperative *** complexity results in high computational costs and limited industrial *** tackle the above challenges,this paper proposes a lightweight CNN-Transformer named as SEFormer for rotating machinery fault ***,a separable multiscale depthwise convolution block is designed to extract and integrate multiscale feature information from different channel dimensions of vibration ***,an efficient self-attention block is developed to capture critical fine-grained features of the signal from a global ***,experimental results on the planetary gearbox dataset and themotor roller bearing dataset prove that the proposed framework can balance the advantages of robustness,generalization and lightweight compared to recent state-of-the-art fault diagnosis models based on CNN and *** study presents a feasible strategy for developing a lightweight rotating machinery fault diagnosis framework aimed at economical deployment.

关键词： CNN-Transformer separable multiscale depthwise convolution efficient self-attention fault diagnosis

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New Insights on Gamma-Ray Burst Radiation Mechanisms from Multiwavelength Observations

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Research in Astronomy and Astrophysics 2025年第2期25卷 3-12页

作者： Yu-hua Yao Fang-Sheng Min Shi Chen yi-Qing Guo College of Physics Chongqing University Key Laboratory of Particle Astrophysics Institute of High Energy Physics Chinese Academy of Sciences Wisconsin Ice Cube Particle Astrophysics Center University of Wisconsin–Madison University of Chinese Academy of Sciences School of Physics and Astronomy Yunnan University Tianfu Cosmic Ray Research Center

The study of high-energy gamma-ray emission from gamma-ray bursts(GRBs) involves complex synchrotron radiation and synchrotron self-Compton(SSC) scattering mechanisms with multiple parameters exhibiting a wide distribution. Recent advancements in GRB research, particularly the observation of very high energy(VHE,>100 Ge V) radiation, have ushered in a new era of multiwavelength exploration, offering fresh perspectives and limitations for understanding GRB radiation mechanisms. This study aimed to leverage VHE observations to refine constraints on synchrotron + SSC radiation from electrons accelerated by forward shocks. By analyzing two external environments—the uniform interstellar medium and stratified stellar wind medium, we conducted spectral and variability fitting for five specific bursts(GRB 180720B, GRB 190114C, GRB 190829A, GRB 201216C, and GRB 221009A) to identify the optimal parameters characterizing these events. A comparative analysis of model parameter distributions with and without VHE radiation observations reveals that the magnetic energy equipartition factor εBis more concentrated with VHE emissions. This suggests that VHE emissions may offer greater constraints on this microphysical parameter. Additionally, we found that the energy budget between VHE and ke V–Me V γ-ray emissions under the SSC radiation exhibits an almost linear relationship, which may serve as a tool to differentiate radiation mechanisms. We anticipate future statistical analyses of additional VHE bursts to validate our findings.

关键词： (transients:) gamma-ray bursts gamma-rays: ISM radiation mechanisms: non-thermal

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Alpha-decay properties of nuclei around neutron magic numbers

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Nuclear Science and Techniques 2025年第1期36卷 140-149页

作者： Ming Li Chu-Xin Chen Lan-Fang Xiao yi Zhang Song Luo Xiao-hua Li School of Nuclear Science and Technology University of South ChinaHengyang 421001China PET‑CT Center Chenzhou First People’s HospitalChenzhou 423000China Hengyang Ecological Environment Monitor Center Hengyang 421001China China Certification and Inspection Group Hefei 230000China National Exemplary Base for International Science and Technology Collaboration of Nuclear Energy and Nuclear Safety University of South ChinaHengyang 421001China Cooperative Innovation Center for Nuclear Fuel Cycle Technology and Equipment University of South ChinaHengyang 421001China Key Laboratory of Low Dimensional Quantum Structures and Quantum Control Hunan Normal UniversityChangsha 410081China

By combining experimental α-decay energies and half-lives, the α-particle preformation factor for nuclei around neutron magic numbers N of 126, 152, and 162 were extracted using the two-potential approach. The nuclei around the shell closure were more tightly bound than adjacent nuclei. Additionally, based on the WS4 mass model (Wang et al., Phys. Lett.B 734, 215 (2014)), we extended the two-potential approach to predict the α-decay half-lives of nuclei around N values of178 and 184 with Z of 119 and 120. We believe that our findings will serve as guidelines for future experimental studies.

关键词： adecay Preformation factor Neutron magic number Heavy and superheavy nuclei

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Recent advances of metal vacancies in energy and environmental catalysis:Synthesis,characterization,and roles

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Green Energy & Environment 2025年第1期10卷 84-108页

作者： Long Sun Shunzheng Zhao Sirui Gao Ronghui zhu yiran Tan Xiaolong Tang Honghong yi School of Energy and Environmental Engineering University of Science and Technology BeijingBeijing100083China Beijing Key Laboratory of Resource-oriented Treatment of Industrial Pollutants Beijing100083China

With the ongoing depletion of fossil fuels,energy and environmental issues have become increasingly critical,necessitating the search for effective ***,being one of the hallmarks of modern industry,offers a promising avenue for ***,the question of how to significantly enhance the performance of catalysts has gradually drawn the attention of *** engineering,a commonly employed and effective approach to improve catalyst activity,has become a significant research focus in the catalysis field in recent *** vacancies have received extensive attention due to their simple ***,exploration of metal vacancies has remained stagnant for a considerable period,resulting in a scarcity of comprehensive reviews on this ***,based on the latest research findings,this paper summarizes and consolidates the construction strategies for metal vacancies,characterization techniques,and their roles in typical energy and environmental catalytic ***,it outlines potential challenges in the future,aiming to provide valuable references for researchers interested in investigating metal vacancies.

关键词： Metal vacancies Catalysis Construction strategies Characterization techniques Roles

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