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Genes & Diseases 2022年第5期9卷 1174-1177页

作者： lele kuang Yuchao Jiang Shuxia Chen Ke Su Rui Peng Xueyan Yang Hongyan Wang Obstetrics and Gynecology Hospital NHC Key Laboratory of Reproduction Regulation(Shanghai Institute of Planned Parenthood Research)Children's HospitalFudan UniversityShanghai 200011PR China Department of Assisted Reproduction Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200092PR China The MOE Key Laboratory of Contemporary Anthropology Department of Anthropology and Human GeneticsSchool of Life SciencesFudan UniversityShanghai 200438PR China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Institute of Metabolism and Integrative BiologyInstitute of Reproduction and DevelopmentInstitutes of Biomedical SciencesFudan UniversityShanghai 200090PR China

To the Editor:Neural tube defects(NTDs)are among the most common human birth defects affecting about 1/1000 live births worldwide.1 The etiology of NTDs is attributed to complex genetic and environmental risk *** 200 genes have been identified to cause NTDs in animal models,suggesting the involvement of distinct molecular basis in NTD etiology,including the Sonic hedgehog(Shh)signaling.

关键词： involvement neural attributed

A mutation in TBXT causes congenital vertebral malformations in humans and mice

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Journal of Genetics and Genomics 2024年第4期51卷 433-442页

作者： Shuxia Chen Yunping Lei Yajun Yang Chennan Liu lele kuang Li Jin Richard HFinnell Xueyan Yang Hongyan Wang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering at School of Life SciencesKey Laboratory of Reproduction Regulation of NPFPCInstitute of Reproduction and DevelopmentFudan UniversityShanghai 200438China Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China Center for Precision Environmental Health Department of Molecular and Cellular BiologyBaylor College of MedicineHoustonTX 77030USA MOE Key Laboratory of Contemporary Anthropology School of Life SciencesFudan UniversityShanghai 200438China Department of Assisted Reproduction Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200092China Children’s Hospital Fudan University399 Wanyuan RoadShanghai 201102China

T-box transcription factor T(TBXT;T)is required for mesodermal formation and axial skeletal *** it has been extensively studied in various model organisms,human congenital vertebral malformations(CVMs)involving T are not well ***,we report a family with 15 CVM patients distributed across 4 *** affected individuals carry a heterozygous mutation,T c.596A>G(p.Q199R),which is not found in unaffected family members,indicating co-segregation of the genotype and *** vitro assays show that T p.Q199R increases the nucleocytoplasmic ratio and enhances its DNA-binding affinity,but reduces its transcriptional activity compared to the *** determine the pathogenicity of this mutation in vivo,we generated a Q199R knock-in mouse model that recapitulates the human CVM *** heterozygous Q199R mice show subtle kinked or shortened tails,while homozygous mice exhibit tail filaments and severe vertebral ***,we show that the Q199R mutation in T causes CVM in humans and mice,providing previously unreported evidence supporting the function of T in the genetic etiology of human CVM.

关键词： Congenital vertebral malformation TBXT T gene Loss-of-function mutation

Rare Mutations in SHROOM3 are Associated with Human Neural Tube Defects

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Rare Mutations in SHROOM3 are Associated with Human Neural T...

High-performance poly(aromatic pyridine) copolymers with crown ether moieties for high temperature polymer electrolyte membrane fuel cells

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： kuang lele Wang Hongyan The State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Ant hropology & The Collaborative Innovation Centre of Genetics and Development School of Life ScienceFudan University Jiangwan Campus

Objective to explore the molecular mechanism and function of Shroom3 in human Neural tube d efects Method with the next generation whole exon sequencing,we sequenced the coding region of SH ROOM3 among all cases dan ***,lots of mutations were found including common(MA F>5%) and rare mutations(MAF<1%).As common mutations in human often don’t have a good co nsistency with sides,and rare mutations play more and more important roles in NTD ***, we focus the de novo rare *** Sanger sequencing,we identify three case-specific nonsynonymous and one frameshift mutations in human ***,functional studies in vitro such as Co-IP and fluorescent colocalization were taken to explore the effect of mutations. Result In this study,363 miscarried of stillborn Han Chinese NTD fetuses from Jiangsu and Shan xi province, China were collected as *** group contains 215 unrelated normal fetuses born in the same ***,four rare case-specific heterozygous mutations were found in hum an *** vitro functional assays showed that all four mutations increased the interaction with D vl2,and lost the ability to inhibit PCP *** addition,Co-IP and fluorescent colocalization assa ys showed that frameshift mutation also disrupted its binding and colocalization with Rock1 SBD. Conclusion Apical constriction and convergent extension are the most critical processes during n eural tube ***3 mutations may act through PCP and Rock1 pathway together with ot her gene network and environment risk factors to mediate the severity of NTD phenotypes.

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Science China Chemistry 2025年

作者： Qian Wang Songhao Zhao Yunpeng Guo Wei Wei lele Wang Jingshuai Yang Department of Chemistry College of Sciences Northeastern University Institute of Metal Research Chinese Academy of Sciences

This study concentrates on the development of high temperature polymer electrolyte membranes（HT-PEMs）, which are essential components for HT-PEM fuel cells（HT-PEMFCs）. Although the phosphoric acid（PA）-doped polybenzimidazole（PBI） has been regarded as the successful HT-PEM, this system still suffers from several challenges, including the use of carcinogenic monomers, complex synthesis procedures, and poor solubility in organic solvents. To develop more cost-effective, readily synthesized and high-performance alternatives, this study employs a simply superacid-catalyzed Friedel-Crafts reaction to synthesize a series of poly（triphenyl-co-dibenzo-18-crown-6 pyridine） copolymers, denoted as P(TPx%-co-CEy%), using ptriphenyl, dibenzo-18-crown-6 and 4-acetylpyridine as monomers. The copolymerized hydrophilic and bulky crown ether unites introduce large free volumes and multiple interaction sites with PA molecules, as elucidated by theoretical *** microphase separation structures are formed as confirmed by atomic force microscope（AFM）, transmission electron microscopy（TEM） and small-angle X-ray scattering（SAXS）. Thus P(TPx%-co-CEy%) membranes exhibit excellent PA absorption and proton conduction abilities. For example, after immersing in 85 wt% PA at 30 °C, the P(TP91%-co-CE9%) membrane achieves a PA doping content of 205% and a high conductivity of 0.138 S cm-1at 180 °C, while maintaining a tensile strength of 7.5 MPa at room temperature. Without humidification and backpressure, the peak power density of an H2-O2cell equipped with P(TP91%-co-CE9%)/205%PA reaches nearly 1200 mW cm-2, representing one of the highest performances reported for PA-doped HT-PEMs to date. This work demonstrates the enormous potential of poly（triphenyl-co-crown ether pyridine） membranes in the HT-PEMFC applications.

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一例DYM基因移码变异所致Dyggve-Melchior-Clausen综合征患儿的临床及遗传学分析

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中华医学遗传学杂志 2022年第4期39卷 370-373页

作者：匡乐乐彭瑞刘斌奚迪常秋荣高玉平上海交通大学医学院附属新华医院生殖医学中心上海200092 复旦大学附属妇产科医院上海200433

目的对1个Dyggve-Melchior-Clausen综合征家系进行基因变异检测,明确其遗传学病因。方法应用全外显子及Sanger测序对家系成员进行致病变异检测,并通过蛋白免疫印迹法(Western blotting)对变异位点进行功能分析。结果测序结果显示家系的... 详细信息

目的对1个Dyggve-Melchior-Clausen综合征家系进行基因变异检测,明确其遗传学病因。方法应用全外显子及Sanger测序对家系成员进行致病变异检测,并通过蛋白免疫印迹法(Western blotting)对变异位点进行功能分析。结果测序结果显示家系的两例患儿DYM基因均存在c.1222delG纯合变异,其父母均为杂合变异携带者。该变异为未报道的新变异,导致DYM蛋白第408位氨基酸由Asp变为Met,并在移码10个氨基酸后提前终止(***408Metfs*10)。蛋白免疫印迹法结果显示,c.1222delG变异导致DYM突变型蛋白被降解,为功能丧失型变异。结论DYM基因c.1222delG纯合变异可能为该家系患儿的致病原因,可为临床诊断和遗传咨询提供依据。

关键词： Dyggve-Melchior-Clausen综合征 DYM基因移码变异功能丧失型

Engineering N3C vacancies in hierarchical porous carbon nitride nanosheets for room temperature ultradeep photocatalytic aerobic oxidative desulfurization

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Science China Chemistry 2025年

作者： Yina Nie Weijie Yang Xin Wang Xiang Li lele Wei Xiaolin Bai Lin Liu Feng Fu Jun Wan College of Chemistry & Chemical Engineering Research Institute of Comprehensive Energy Industrial Technology Shaanxi Key Laboratory of Chemical Reaction Engineering Yan'an University Anhui Engineering Research Center of Carbon Neutrality College of Chemistry and Materials Science Anhui Normal University

The production of ultra-low sulfur clean fuels holds global significance for improving energy efficiency and reducing environmental pollution. Photocatalytic aerobic oxidative desulfurization（PODS） offers an attractive approach to efficiently remove refractory heterocyclic aromatic sulfur compounds under mild conditions. However, the sluggish charge dynamics,insufficient molecule activation, and slow mass transfer within photocatalysts restrict the overall desulfurization efficiency,hindering the widespread application of this technology. Herein, we developed a defective g-C3N4（M1U3CN） photocatalyst with bridged N3Cvacancies and hierarchical porous structures to address these limitations. This catalyst not only demonstrates outstanding dibenzothiophene（DBT） removal efficiency of 99.6% for model oil with high conversion and selectivity but also achieves complete sulfur removal from gasoline as well as 96.7% sulfur removal for distilled diesel at room temperature,successfully achieving ultradeep aerobic oxidative desulfurization. The introduction of rich N3Cvacancies and abundant micromeso-macroporous distribution in M1U3CN enhances kinetic efficiencies by promoting charge carrier separation, mass transfer,and molecular activation simultaneously; resulting in exceptional PODS performance. This work provides a collaborative strategy to overcome kinetic challenges in aerobic oxidative desulfurization via defect and structural engineering of the catalyst.

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精子颗粒协定方对IVF-ET患者胚胎结局的影响及临床应用价值分析

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中国男科学杂志 2022年第6期36卷 94-97,115页

作者：刘斌高玉平纪丽轩匡乐乐上海交通大学医学院附属新华医院上海200092

目的探讨精子颗粒协定方(简称协定方)对于改善卵胞浆内单精子显微注射技术(ICSI)患者胚胎结局的影响及对于临床的应用价值。方法回顾性分析2020年1月至2021年12月期间在上海交通大学医学院附属新华医院生殖医学中心行常规体外受精胚胎移... 详细信息

目的探讨精子颗粒协定方(简称协定方)对于改善卵胞浆内单精子显微注射技术(ICSI)患者胚胎结局的影响及对于临床的应用价值。方法回顾性分析2020年1月至2021年12月期间在上海交通大学医学院附属新华医院生殖医学中心行常规体外受精胚胎移植(IVF-ET)的247对不孕不育夫妇诊疗情况,根据精液质量分三组,正常精液质量IVF组(98),少弱畸形精子症服用协定方IVF-ET组(70)和少弱畸形精子症未服用协定方IVF-ET组(79),观察比较协定方对于改善精液质量及对于胚胎发育情况和临床结局的影响。此外,探讨服用协定方患者组与正常精液IVF组的结局区别。结果协定方治疗组相对于未服用协定方治疗组,精子质量(12.9±4.03 vs 10.91±4.01)有明显改善,在受精率(82.55%vs 76.33%)和优质胚胎率(51.93 vs 43.73%)上有明显改善,有统计学差异,在正常受精率(87.57%vs 85.81%),卵裂率(99.19%vs 98.83%),临床妊娠率(45.71%vs 40.51%)上没有统计学差异。而服用协定方治疗组相对于正常IVF受精患者,精子密度(11.7±3.899 vs 52.90±15.000)和前向精子(12.9±4.03 vs29.74±12.9)存在差异,其他各项指标上均无统计学差异。结论协定方可以改善精液质量,对于精液质量差的接受辅助生殖治疗的患者的受精率和优质胚胎率有明显改善作用,对于临床结局没有统计学差异。

关键词：精子颗粒协定方体外受精胚胎移植妊娠结局

Leader-follower: Human-centered intention-guided controller for novel SuperLimb with application to load-carrying scenarios

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Science China Technological Sciences 2025年第1期 325-338页

作者： Qinghua ZHANG Xianglong LI Hongwei JING Kerui SUN Yuancheng LI Sikai ZHAO lele LI Haotian JU Ziqi WANG Rui WU Tianjiao ZHENG Jie ZHAO Yanhe ZHU The State Key Laboratory of Robotics and System Harbin Institute of Technology The Learning Algorithms and Systems Laboratory School of Engineeringécole Polytechnique Fédérale de Lausanne

Supernumerary robotic arms(SuperLimb) are a new type of wearable robot that works closely with humans as a third hand to augment human operation capability. Accurate conveyance of wearers' intentions, allocation of roles, and humancentered interaction considerations are the key points in the process of human–SuperLimb collaboration. This paper proposes a human-centered intention-guided leader–follower controller that relies on the dynamic modeling of SuperLimb with application to load-carrying scenarios. The proposed leader–follower controller takes the human as the leader and the SuperLimb as the follower, achieving effective information communication, autonomous coordination, and good force compliance between SuperLimb, humans, and the environment under human safety assurance. First, the human–SuperLimb dynamic system is modeled to achieve force interaction with the environment and wearer. Second, to achieve the precise intention extraction of humans, pose data from five visual odometry sensors are fused to capture the human state, the generalized position, the velocity of hands, and the surface electromyography signals from two myoelectric bracelets sensors are processed to recognize the natural hand gestures during load-carrying scenarios by a designed Swin transformer network. Then, based on the real-time distance detection between human and mechanical limbs, the security assurance and force-compliant interaction of the human–SuperLimb system are realized. Finally, the human hand muscle intention recognition, human–robot safety strategy verification,and comparative load-carrying experiments with and without the proposed method are conducted on the SuperLimb *** showed that the task parameters are well estimated to produce more reasonable planning trajectories, and SuperLimb could well understand the wearer's intentions to switch different SuperLimb actions. The proposed sensor-based human–robot communication framework motivates future studies of o

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多囊卵巢综合征患者血清和卵泡液中Adropin水平对胚胎发育质量的影响

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国际检验医学杂志 2019年第16期40卷 1968-1972页

作者：奚迪郑英霞刘斌匡乐乐任懿倩高玉平上海交通大学医学院附属新华医院生殖医学中心上海200092 上海交通大学医学院附属新华医院检验科上海200092

目的探讨血清和卵泡液中Adropin水平对行辅助生殖治疗的多囊卵巢综合征(PCOS)患者体外受精(IVF)胚胎结局的影响。方法选取在该院就诊并首次行IVF治疗的PCOS患者30例作为PCOS组,30例输卵管因素不孕患者作为对照组,通过酶联免疫吸附试验(E... 详细信息

目的探讨血清和卵泡液中Adropin水平对行辅助生殖治疗的多囊卵巢综合征(PCOS)患者体外受精(IVF)胚胎结局的影响。方法选取在该院就诊并首次行IVF治疗的PCOS患者30例作为PCOS组,30例输卵管因素不孕患者作为对照组,通过酶联免疫吸附试验(ELISA)试剂盒检测两组血清和卵泡液中Adropin水平,同时测定患者血清中基础性激素和人绒毛膜促性腺激素日性激素等指标。结果PCOS组患者的血清和卵泡液中Adropin水平显著低于对照组,差异有统计学意义(P<0.001);卵泡液中Adropin水平显著低于血清Adropin水平,差异有统计学意义(P<0.001);血清和卵泡液中Adropin水平与获卵数呈负相关性(P<0.05);血清Adropin水平还与多原核(PN)受精率呈负相关性(P<0.05),但与正常受精率呈正相关性(P<0.05)。结论血清Adropin水平能够提示胚胎实验室进行早期干预以改善PCOS患者的卵母细胞发育与受精情况。

关键词： Adropin 多囊卵巢综合征卵泡液体外受精

Effectiveness and clinical benefit of a therapy of combined non-pharmaceutical Traditional Chinese Medicine for knee osteoarthritis: a randomized controlled study

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Journal of Traditional Chinese Medicine 2020年第3期40卷 447-454页

作者： Zhang lele Yuan Haixin Department of Traditional Chinese Medicine the First Affiliated Hospital of Henan University of Science and TechnologyClinical Medical College of Henan University of Science and TechnologyLuoyang 471003China

OBJECTIVE: To compare the efficacy of honey mouthwash 12.5% and chlorhexidine solution 0.2% to reduce the rate of oropharyngeal bacterial colonization in mechanically-ventilated ***: This study was a randomized, single blind, phase Ⅲ controlled clinical trial. Sixty patients newly admitted to internal and trauma Intensive Care Units of the two educational hospitals of Sanandaj city affiliated with Kurdistan University of Medical Sciences were selected by convenience sampling and allocated to two groups of 30 patients using random blocks design. In each group,the mouthwash was applied twice a day for four consecutive days. Swab samples were taken from the mouth and throat of all patients three times a day(pre-intervention, two days, and four days after the intervention) and then the samples were transferred onto the blood agar and eosin methylene blue(EMB) culture plates and investigated for bacterial growth and colonization after 24-48 ***: The findings showed that oropharyngeal colonization was not significantly different between the two groups, pre-intervention, two days,and four days after the intervention(P > 0.05). Rinsing with honey mouthwash 12.5% led to the inhibition of Staphylococcus aureus and Pseudomonas aeruginosa on the fourth day of the intervention in all ***: None of the studied solutions contributed to the reduction of oropharyngeal bacterial colonization. It seems that the growth inhibition of Staphylococcus aureus and Pseudomonas aeruginosa by the honey 12.5% mouthwash in mechanically-ventilated patients need further investigation.

关键词： Osteoarthritis knee Electroacupuncture Pain measurement Needle warming moxibustion Teding Dianci Pu therapy Randomized controlled trail