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Biallelic variants in RBM42 cause a multisystem disorder with neurological,facial,cardiac,and musculoskeletal involvement

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Protein & Cell 2024年第1期15卷 52-68页

作者： Yiyao Chen Bingxin Yang Xiaoyu Merlin Zhang Songchang Chen Minhui Wang liya Hu Nina Pan shuyuan li Weihui Shi Zhenhua Yang li Wang Yajing Tan Jian Wang Yanlin Wang Qinghe Xing Zhonghua Ma Jinsong li He-Feng Huang Jinglan Zhang Chenming Xu Institutes of Biomedical Sciences Fudan UniversityShanghai 200032China bstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Intermational Peace Matermity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China State Key Laboratory of Cell Biology Shanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China State Key Laboratory of Rice Biology the Key Laboratory of Molecular Biology of Crop Pathogens and InsectsInstitute of BiotechnologyZhejiang UniversityHangzhou 310058China Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of MedicineHoustonTX 77030USA Children's hospital of Fudan University Shanghai 201102China School of life Science and Technology Shanghai Tech UniversityShanghai 201210China School of life Science Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhou 310024ZhejiangChina Research Units of Embryo Original Diseases Chinese Academy of Medical Sciences(No.2019RU056)Shanghai 200011China

Here,we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene.The patient is a 2-year-old female with severe central nervous system(CNs)abnormalities,hypotonia,hearing loss,congenital heart defects,and dysmorphic facial features.Familial whole-exome sequencing(WEs)reveals that the patient has two compound heterozygous variants,c.304C>T(p.R102*)and c.1312G>A(p.A438T),in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family.The p.A438T variant is in the RRM domain which impairs RBM42 pro-tein stability in vivo.Additionally,p.A438T disrupts the interaction of RBM42 with hnRNP K,which is the causa-tive gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient.The human R102*or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout△FgRbp1 in Fusarium while it was rescued by the wild-type(WT)human RBM42.A mouse model carying Rbm42 compound heterozygous variants,c.280C>T(p.Q94*)and c.1306_1308delinsACA(p.A436T),demonstrated gross fetal develop-mental defects and most of the double mutant animals died by E13.5.RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing(As).Overall,we present clinical,genetic,and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.

关键词： RBM42 gene RNA-binding protein neurodevelopmental disorder Au-Kline syndrome alternative splicing

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Benign Multicystic Peritoneal Mesothelioma: A Case Report

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Proceedings of Anticancer Research 2024年第2期8卷 42-45页

作者： Yuxuan Shao Shifeng Xiang Ya Su shuyuan li Hebei North University Zhangjiakou 075000China CT Room Handan Central HospitalHandan 056001China

Benign multicystic peritoneal mesothelioma(BMPM)is a rare tumor originating from peritoneal mesothelial cells.Here,we present a case of an 18-year-old male with right lower abdominal pain.Physical examination revealed a palpable mass with unclear boundaries.Laboratory tests showed elevated levels of monocytes and high-sensitivity C-reactive protein.CT scan revealed a cystic mass in the ileocecal region with multiple septations.Laparoscopic surgery confirmed a cystic solid mass resembling beads on the colon’s right side.Immunohistochemistry confirmed BMPM diagnosis.BMPM,especially in the ileocecal region,is uncommon and presents diagnostic challenges.Differential diagnosis includes lymphangioma,peritoneal metastasis,and malignant mesothelioma.CT findings,such as thin cyst walls and septations,aid in diagnosis.Recognition of BMPM’s imaging features improves diagnostic accuracy.Surgical resection remains the primary treatment.This case underscores the importance of considering BMPM in young male patients with abdominal pain and emphasizes the value of imaging modalities in accurate diagnosis and management.

关键词： Benign multicystic peritoneal mesothelioma(BMPM) Imaging Diagnosis

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Atomically dispersed Ni electrocatalyst for superior urea-assisted water splitting

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Journal of Energy Chemistry 2024年第3期90卷 1-6,I0002页

作者： Fang Luo shuyuan Pan Yuhua Xie Chen li Yingjie Yu Zehui Yang College of Materials Science and Engineering State Key Laboratory of New Textile Materials&Advanced Processing TechnologyWuhan Textile UniversityWuhan 430200China Hubei Hydrogen Energy Technology Innovation Center Faculty of Materials Science and ChemistryChina University of GeosciencesWuhan 430074HubeiChina

Urea oxidation reaction(UOR) has been selected as substitution for oxygen evolution reaction ascribing to its low thermodynamic voltage as well as utilization of nickel as electrocatalyst.Herein,we report the formation of nickel single atoms(Ni-SAs) as exceptional bifunctional electrocatalyst toward UOR and hydrogen evolution reaction(HER) in urea-assisted water splitting.In UOR catalysis,Ni-SAs perform a superior catalytic performance than Ni-NP/NC and Pt/C ascribing to the formation of HOO-Ni-N_(4) structure evidenced by in-situ Raman spectroscopy,corresponding to a boosted mass activity by 175-fold at 1.4 V vs.RHE than Ni-NP/NC.Furthermore,Ni-SAs requires only 450 mV overpotential to obtain HER current density of 500 mA cm^(-2).136 mA cm^(-2) is achieved in urea-assisted water splitting at1.7 V for Ni-SAs,boosted by 5.7 times than Pt/C-IrO_(2) driven water splitting.

关键词： Urea oxidation reaction Hydrogen evolution reaction Nickel single atoms Water splitting

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In-situ observation of structural evolution of single-atom catalysts:From synthesis to catalysis

ChemPhysMater

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ChemPhysMater 2024年第1期3卷 24-35页

作者： Lei Wang shuyuan Lyu Shuohao li School of Chemistry and Chemical Engineering Yangzhou UniversityYangzhou 225009China School of Art and Design Huaiyin Institute of TechnologyHuaian 223003China School of Safety Engineering China University of Mining and TechnologyXuzhou 221116China

Atomically dispersed single-atom catalysts(SACs)have been extensively studied over the past decade because of their high atom utilization efficiencies and specific selectivities.Although numerous strategies have been proposed to obtain SACs with high densities and stabilities,the transformation mechanism that occurs during the reaction is still unclear.This review summarizes the structural evolution of SACs in the preparation process and reaction with various electron microscopy techniques at atomic scale under environmental conditions.Current state-of-the-art environmental electron microscopy studies on SACs mainly focus on porous carbons,metals or metal oxides,and some specific composite materials.The dynamic evolution of SACs under various reaction conditions is also investigated in this study.Finally,we highlight the challenges and drawbacks of the current studies and the prospects for the future exploration of SACs with environmental strategies.

关键词： Single-atom catalysts Structural transformation Atomization Environmental electron microscope

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Prospects of sea buckthorn(Hippophae rhamnoides L.) polysaccharides: preparation， structural characterization， and bioactivities diversity

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Food Science and Human Wellness 2024年

作者： shuyuan Shi Ruiyun Wu Zixin Han Yu Sun Pinglan li Fazheng Ren Nan Shang Key Laboratory of Precision Nutrition and Food Quality College of Food Science and Nutritional Engineering China Agricultural University Key Laboratory of Precision Nutrition and Food Quality Department of Nutrition and Healthy China Agricultural University College of Engineering China Agricultural University

Sea buckthorn (Hippophae rhamnoides L.) is a natural homologous substance of medicine and food. Polysaccharide， as one of its primary active components， has very superior biological activity and can be used as a dietary supplement for functional foods， with good commercial prospects. Although initial progress has been made in the study of sea buckthorn polysaccharides， related studies have been fragmented and lacked systematic and generalization. This manuscript presents a critical analysis and systematic summary of the extraction and purification methods， structural characterization and physicochemical properties， biological activity and potential mechanisms， and structure-activity relationships of sea buckthorn polysaccharides. Accumulating evidence has indicated that sea buckthorn polysaccharides， which were widely prepared by water extraction and column chromatography purifications， exhibited exhibit superior biological activities in vitro and in vivo， including antioxidant， immunomodulatory， anti-inflammatory， hepatorenal protective， antibacterial， antiviral， and prebiotic activities. After analysis， it was concluded that there is a correlation between the relevant activities of sea buckthorn polysaccharides and that the structure of sea buckthorn polysaccharides has a great influence on their biological activity. We reviewed the challenges and limitations of sea buckthorn polysaccharides， summarized the critical aspects， and provided suggestions for potential breakthroughs in the research and application of sea buckthorn polysaccharide.

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Three-dimensional acoustic radiation force of a eukaryotic cell arbitrarily positioned in a Gaussian beam

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Nanotechnology and Precision Engineering 2023年第1期6卷 40-46页

作者： shuyuan li Xiaofeng Zhang Shaanxi Key Laboratory of Ultrasonics School of Physics and Information TechnologyShaanxi Normal UniversityXi’an 710119China

Expressions are derived for calculating the three-dimensional acoustic radiation force(ARF)on a multilayer microsphere positioned arbitrarily in a Gaussian beam.A theoretical model of a three-layer microsphere with a cell membrane,cytoplasm,and nucleus is established to study how particle geometry and position affect the three-dimensional ARF,and its results agree well with finite-element numerical results.The microsphere can be moved relative to the beam axis by changing its structure and position in the beam,and the axial ARF increases with increasing outer-shell thickness and core size.This study offers a theoretical foundation for selecting suitable parameters for manipulating a three-layer microsphere in a Gaussian beam.

关键词： Off-axis Gaussian beam Acoustic radiation force Three-layered microsphere Finite element method

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The mechanism and kinetics of oil shale pyrolysis in the presence of water

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Carbon Resources Conversion 2018年第2期1卷 160-164页

作者： Yue Ma shuyuan li State Key Laboratory of Heavy oil Processing College of ScienceChina University of PetroleumBeijing 102249China

The hydrous thermo-simulation experiments on oil shale sample from liushuhe basin have been performed using autoclave.The mechanism and kinetics of oil shale pyrolysis were investigated.The formation mechanism of pyrolysates including retorting gas,oil and bitumen,were evaluated in the presence of saturated and unsaturated water,respectively.The results show that the physicochemical properties of water have greatly changed in high temperature and pressure.At the same time,water has three kinds of effect on the oil shale pyrolysis,including the protection of free radical,catalytic action and swelling.The pyrolysis temperature was carried out about 70C earlier,and the generated processing of hydrocarbon would be easier under the aqueous.The consecutive first order reaction model involving bitumen as an intermediate product was used in the data analysis in order to determine the pyrolysis kinetic parameters.It was found that the apparent activation energy of kerogen pyrolysis was lower than bitumen pyrolysis.

关键词： Oil shale Mechanism Free radicalreaction Carbocation reaction Kinetics Aqueous medium

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分工与合作:源起性社会伦理的生成

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社会科学战线 2024年第3期345卷 8-15页

作者：李建华刘树源武汉大学哲学学院湖北武汉430072 武汉大学应用伦理学研究中心湖北武汉430072

分工与合作是社会学、政治学、人类学、管理学、心理学等学科关注的重点问题,但一直游离于伦理学视野之外。就真实的社会伦理生活景象而言,社会分工关系才是人类最早的社会关系,它不仅是生产力的范畴,也是生产关系的范畴;不仅是经济现象... 详细信息

分工与合作是社会学、政治学、人类学、管理学、心理学等学科关注的重点问题,但一直游离于伦理学视野之外。就真实的社会伦理生活景象而言,社会分工关系才是人类最早的社会关系,它不仅是生产力的范畴,也是生产关系的范畴;不仅是经济现象,更是一种重要的伦理现象,因为它是人类生活的“第一秩序”,也是最原初的伦理关系。因分工产生的合作是人类道德进步的标志性成果,也是社会伦理关系缔结的重要纽带,更是伦理协调的坚实基础,但合作的进化与合作的复杂性也充分表明,在现代社会,合作本身的伦理问题日益凸现,集中在合作的利益取舍上。在传统社会治理模式下,合作的规则外在于合作本身,选择合作就是先选择合作规则,而现代社会治理模式下,合作则表现为与对规则的选择与遵守是同时进行的,这其中不但有充分的对话沟通机制,而且均出自人己皆利的价值立场,否则会各自强调对自己有利的规则而导致合作失败,这就需要构建一种超越于自利性的现代合作伦理。

关键词：分工合作人己皆利协调伦理

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某电子工业园区污水处理厂工程设计

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给水排水 2024年第3期50卷 77-81页

作者：吴斯文李树苑李亮中国市政工程中南设计研究总院有限公司武汉430010 广州市创景市政工程设计有限公司广州510030

针对某电子工业园区污水处理厂进水水质特性,采用粗格栅及进水泵房-细格栅及沉砂池-调节池(含事故池)-混凝初沉池-水解酸化池-厌氧-多级好氧缺氧生物池-二沉池-高效沉淀池-反硝化深床滤池-活性炭(焦)吸附流化床-氧化铝吸附滤池-接触消... 详细信息

针对某电子工业园区污水处理厂进水水质特性,采用粗格栅及进水泵房-细格栅及沉砂池-调节池(含事故池)-混凝初沉池-水解酸化池-厌氧-多级好氧缺氧生物池-二沉池-高效沉淀池-反硝化深床滤池-活性炭(焦)吸附流化床-氧化铝吸附滤池-接触消毒工艺,并针对难降解COD、氟化物等问题,设计了保证率高且切换灵活的运行模式,介绍了工艺流程、主要设计参数及运行效果。污水处理厂出水可以稳定达到《地表水环境质量标准》(GB3838-2002)Ⅲ类标准。

关键词：含氟工业废水准Ⅲ类活性炭(焦)吸附流化床氧化铝吸附过滤

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A comparative study on characteristics of sulfur and nitrogen transformation and gaseous emission for combustion of bituminous coal and char

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Carbon Resources Conversion 2018年第1期1卷 86-93页

作者： Jili Hou Yue Ma shuyuan li Wenzhi Shang a State Key Laboratory of Heavy Oil Processing China University of Petroleum-BeijingBeijing 102249PR China Shenmu Sanjiang Coal Chemical Industry Co. Ltd.Shenmu 719300PR China

The characteristics of sulfur and nitrogen transformation and the emissions’comparison of sulfurous and nitrogenous gas were investigated using SEM,XPS,TG-FTIR and TG-gas analyzer during the combustion process of Shenmu bituminous coal(SM coal)and its char.SEM indicated that porosity and specific surface area of char were enlarged after coal pyrolysis and a large amount of space could be provided for the oxidation reaction of various sulfur species with oxide during the combustion process.The sulfur and nitrogen species of the two samples analyzed by XPS showed that,pyritic sulfur,organic sulfide sulfur,sulfone and sulfoxide sulfur in coal were partly transformed to thiophenic sulfur and sulfate sulfur in the pyrolysis of coal,and the total sulfur content in char was reduced.Besides,the sulfur and nitrogen species’changes in SM coal,char and the ashes determined by XPS showed that sulfur fixation effect was enhanced in the presence of calcium oxide during combustion.The component analysis of the gas during combustion via TG-FTIR indicated that SO2 and NO2 began to escape at 300C and reached maximum at about 1100C,by contrast,the emissions of SO2 and NO2 of char were below that of SM coal throughout the whole combustion process.The wide range of TG-gas analyzer analysis revealed that the SO2 and NOx emissions of SM coal were 2.51 and 1.71 times as much as char burning,respectively.

关键词： Coal Char S/N Combustion Transformation XPS TG-FTIR

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