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Association of the retinol to all-trans retinoic acid pathway with autism spectrum disorder

World Journal of Pediatrics 2024年第10期20卷 1043-1058页

作者： Yu-Ru Feng Qian Zhang jing-kun miao Ting Yang Jie Chen Hong-Yu Chen Qiu-Hong Mou Xue-Li Xiang Dan Long Qiu-Hong Wei Yuan Wu Ting-Yu Li Children Nutrition Research Center Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive DisordersMinistry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and DisordersChildren’s Hospital of Chongqing Medical UniversityNo 1362nd Zhongshan RdYuzhong DistrictChongqingChina Department of Pediatrics Women and Children’Hospital of Chongqing Medical UniversityChongqing Health Center for Women and ChildrenChongqingChina

Background Autism spectrum disorder(ASD)is a complex group of neurodevelopmental *** has highlighted a close association between the retinoic acid(RA)signaling pathway and *** study investigates alterations in the vitamin A(VA,retinol)to RA metabolic pathway in children with ASD and speculates on the underlying reasons for these *** propose a subtype characterized by downregulated RA signaling in ASD,laying the groundwork for precise diagnosis and treatment *** We included 489 children with ASD and 280 typically developing(TD)*** with ASD underwent evaluations of core symptoms and neuro-developmental levels,which were conducted by professional developmental behavior physicians using assessment *** VA and all-trans RA(atRA)levels were determined by high-performance liquid chromatography and ultra-high-performance liquid chromatography–tandem mass *** expression levels and concentrations of enzyme molecules such as retinol dehydrogenase 10 were assessed using quantitative polymerase chain reaction and enzyme-linked immunosorbent *** Children with ASD exhibited reduced serum atRA,accompanied by a downregulation of atRA synthesis *** reduction in serum atRA levels was linked not only to VA levels but also to the aberrant expression of metabolic enzymes responsible for ***,the serum atRA levels in children with ASD were more strongly correlated with core symptoms and neurodevelopmental levels than VA *** Children with ASD exhibited a dual regulation of reduced serum atRA levels,influenced by both VA levels and abnormal expression of atRA metabolic enzymes.

关键词： All-trans retinoic acid Autism spectrum disorder Retinoic acid signaling pathway Vitamin A Vitamin A metabolism

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A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

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World Journal of Pediatrics 2023年第7期19卷 663-673页

作者： Ru-Lai Yang Gu-Ling Qian Ding-Wen Wu jing-kun miao Xue Yang Ben-Qing Wu Ya-Qiong Yan Hai-Bo Li Xin-Mei Mao Jun He Huan Shen Hui Zou Shu-Yuan Xue Xiao-Ze Li Ting-Ting Niu Rui Xiao Zheng-Yan Zhao National Clinical Research Center for Child Health Children's HospitalZhejiang University School of MedicineHangzhouChina Chongqing Health Center for Women and Children Neonatal Screening CenterChongqingChina Guiyang Maternal and Child Health Hospital GuiyangChina University of the Chinese Academy of Science Shenzhen HospitalShenzhen 518000GuangdongChina Shanxi Children's Hospital Shanxi Maternal and Child Health Hospital TaiyuanShanxiChina The Central Laboratory of Birth Defects Prevention and Control Ningbo Women and Children's HospitalNingbo 315012ZhejiangChina Maternal and Child Health Hospital of Ningxia Hui Autonomous Region YinchuanChina Changsha Maternal and Child Health Hospital ChangshaHunanChina Yunnan Maternal and Child Health Hospital KunmingYunanChina Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University JinanShandongChina Urumqi Maternal and Child Health Care Hospital Xinjiang Uygur Autonomous RegionUrumqi CityChina Medical Genetic Center Changzhi Maternal and Child Health Care HospitalChangzhiShanxiChina Maternal and Child Health Care Hospital of Shandong Province JinanShandongChina National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention Screening and Diagnostic R and D CenterHangzhouChina

Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn *** develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening *** We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with *** this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates *** We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were ***-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different *** positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north *** addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after *** percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional *** the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of *** We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS *** data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in di

关键词： Monogenic genetic diseases Newborn screening Next-generation sequencing Monogenic genetic diseases Regional features

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Emerging structures and dynamic mechanisms ofγ-secretase for Alzheimer’s disease

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Neural Regeneration Research 2025年第1期20卷 174-180页

作者： Yinglong miao Michael S.Wolfe Computational Medicine Program and Department of Pharmacology University of North Carolina–Chapel HillChapel HillNCUSA Department of Medicinal Chemistry University of KansasLawrenceKSUSA

γ-Secretase,called“the proteasome of the membrane,”is a membrane-embedded protease complex that cleaves 150+peptide substrates with central roles in biology and medicine,including amyloid precursor protein and the Notch family of cell-surface *** inγ-secretase and amyloid precursor protein lead to early-onset familial Alzheimer’s disease.γ-Secretase has thus served as a critical drug target for treating familial Alzheimer’s disease and the more common late-onset Alzheimer’s disease as ***,critical gaps remain in understanding the mechanisms of processive proteolysis of substrates,the effects of familial Alzheimer’s disease mutations,and allosteric modulation of substrate cleavage byγ-*** this review,we focus on recent studies of structural dynamic mechanisms ofγ-*** mechanisms,including the“Fit-Stay-Trim,”“Sliding-Unwinding,”and“Tilting-Unwinding,”have been proposed for substrate proteolysis of amyloid precursor protein byγ-secretase based on all-atom molecular dynamics *** an incorrect registry of the Notch1 substrate was identified in the cryo-electron microscopy structure of Notch1-boundγ-secretase,molecular dynamics simulations on a resolved model of Notch1-boundγ-secretase that was reconstructed using the amyloid precursor protein-boundγ-secretase as a template successfully capturedγ-secretase activation for proper cleavages of both wildtype and mutant Notch,being consistent with biochemical experimental *** approach could be potentially applied to decipher the processing mechanisms of various substrates byγ-*** addition,controversy over the effects of familial Alzheimer’s disease mutations,particularly the issue of whether they stabilize or destabilizeγ-secretase-substrate complexes,is ***,an outlook is provided for future studies ofγ-secretase,including pathways of substrate binding and product release,effects of modulators on familial Alzheimer’s disease mutations

关键词： Alzheimer’s disease amyloid precursor protein cryo-EM structures drug design intramembrane proteolysis molecular dynamics Notch

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The Effects of S100A6 on the Wnt/β-Catenin Signaling Pathway

The Effects of S100A6 on the Wnt/β-Catenin Signaling Pathwa...

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中国细胞生物学学会第九次会员代表大会暨青年学术大会

作者： jing-kun miao Tian-Xia Lai Huan-Ling He Sheng Wang Guo-Wei Zuo Xiao-Qin Kou Qi-Hua Tan Xing-Xing Li Lan Zhou (Department of Biomedical Engineering,Chongqing University of Medical Sciences,Chongqing 400016,China)

Background:S 100 protein family constitutes of over 20 proteins that contain the well-conserved EF-hand calcium binding domains. Members of this protein family have been shown to be involved in regulation of protein p... 详细信息

关键词： S100A6 Wnt/β-catenin signaling pathway interaction

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Inspires effective alternatives to backpropagation:predictive coding helps understand and build learning

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Neural Regeneration Research 2025年第11期20卷 3215-3216页

作者： Zhenghua Xu miao Yu Yuhang Song School of Health Sciences and Biomedical Engineering Hebei University of TechnologyTianjinChina Department of Computer Science University of OxfordOxfordUK

Artificial neural networks are capable of machine learning by simulating the hiera rchical structure of the human *** enable learning by brain and machine,it is essential to accurately identify and correct the prediction errors,referred to as credit assignment(Lillicrap et al.,2020).It is critical to develop artificial intelligence by understanding how the brain deals with credit assignment in neuroscience.

关键词： assignment learning enable

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Copper-catalyzed C–H bond functionalization enabled by programmed alternating current

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Science China Chemistry 2025年第01期 10-11页

作者： Zhoumei Tan kun Xu Chengchu Zeng Beijing Key Laboratory of Environmental and Viral Oncology College of Chemistry and Life Science Beijing University of Technology

Synthetic electrochemistry has been selected as one of the Top Ten Emerging Technologies in Chemistry in 2023 by International Union of Pure and Applied Chemistry (IUPAC)[1]. It has emerged as a sustainable platform for organic synthesis and has exhibited a wide range of applications from academia to industry [2]. However, electrosynthesis has been predominantly performed by using direct current (DC).

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Correlation between the rock mass properties and maximum horizontal stress:A case study of overcoring stress measurements

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International Journal of Minerals,Metallurgy and Materials 2025年第1期32卷 39-48页

作者： Peng Li Meifeng Cai Shengjun miao Yuan Li Yu Wang Key Laboratory of Ministry of Education for Efficient Mining and Safety of Metal Mines University of Science and Technology BeijingBeijing 100083China State Key Laboratory of Coal Resources and Safe Mining China University of Mining and TechnologyXuzhou 221116China

Understanding the mechanical properties of the lithologies is crucial to accurately determine the horizontal stress *** investigate the correlation between the rock mass properties and maximum horizontal stress,the three-dimensional(3D)stress tensors at 89 measuring points determined using an improved overcoring technique in nine mines in China were adopted,a newly defined characteristic parameter C_(ERP)was proposed as an indicator for evaluating the structural properties of rock masses,and a fuzzy relation matrix was established using the information distribution *** results indicate that both the vertical stress and horizontal stress exhibit a good linear growth relationship with *** is no remarkable correlation between the elastic modulus,Poisson's ratio and depth,and the distribution of data points is scattered and ***,there is no obvious relationship between the rock quality designation(RQD)and *** maximum horizontal stress σ_(H) is a function of rock properties,showing a certain linear relationship with the C_(ERP)at the same *** addition,the overall change trend of σ_(H) determined by the established fuzzy identification method is to increase with the increase of C_(ERP).The fuzzy identification method also demonstrates a relatively detailed local relationship betweenσ_H and C_(ERP),and the predicted curve rises in a fluctuating way,which is in accord well with the measured stress data.

关键词： overcoring stress measurements elastic modulus Poisson's ratio rock quality designation maximum horizontal stress fuzzy identification

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Transfer RNA-derived small RNA serves as potential non-invasive diagnostic marker and a novel therapeutic target for acute pancreatitis

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World Journal of Gastroenterology 2025年第1期31卷 152-156页

作者： jing Zhang Chun-Lin Ou Department of Immunology School of Basic MedicineCentral South UniversityChangsha 410000Hunan ProvinceChina Department of Pathology Xiangya HospitalCentral South UniversityChangsha 410008Hunan ProvinceChina

Transfer RNA(tRNA)-derived fragments,a new type of tRNA-derived small RNA(tsRNA),can be cleaved from tRNA by enzymes to regulate target gene expression at the transcriptional and translational *** are not only degradation fragments but also have biological functions,including those in immune inflammation,metabolic disorders,and cell *** dysregulation is closely associated with multiple diseases,including various cancers and acute pancreatitis(AP).AP is a common gastrointestinal disease,and its incidence increases *** development is associated with tsRNAs,which regulate cell injury and induce inflammation,especially pyroptosis and ***,serum tRF36 has the potential to serve as a non-invasive diagnostic biomarker and leads to pancreatic acinar cell ferroptosis causing inflammation to promote *** show the characteristics of tsRNAs and their diagnostic value and function in AP,and discuss the potential opportunities and challenges of using tsRNAs in clinical applications and research.

关键词： Transfer RNA derived small RNAs Acute pancreatitis Liquid biopsy Biomarker Cell pyroptosis Ferroptosis

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Terahertz-dependent evaluation of water content in high-water-cut crude oil using additive-manufactured samplers

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Science China(Physics,Mechanics & Astronomy) 2017年第4期60卷 40-44页

作者： LiMei Guan HongLei Zhan XinYang miao jing Zhu kun Zhao Beijing Key Laboratory of Optical Detection Technology for Oil and Gas China University of Petroleum Beijing 102249 China

The evaluation of water content in crude oil is of significance to petroleum exploration and ***(THz) waves are sensitive to fluctuations in the dipole moment of ***,due to the strong absorption of water in the THz range,it is difficult for the THz spectrum to determine high water content with the common *** this research,micron-grade samplers for THz detection were designed and manufactured using additive manufacturing(AM) ***-water mixtures with water content from 1.8%to 90.6%were measured with the THz-TDS system using sample *** addition,a detailed analysis was performed of the relationships among THz parameters such as signal peak,time delay,and refractive index as well as absorption coefficient and high water content(>60%).Results suggest that the combination of THz spectroscopy and AM technique is effective for water content evaluation in crude oil and can be further applied in the petroleum industry.

关键词： water content crude oil additive manufacturing terahertz spectroscopy

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Interaction of major facilitator superfamily domain containing 2A with the blood-brain barrier

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Neural Regeneration Research 2025年第8期20卷 2133-2152页

作者： Yilun Ma Taiwei Dong Fei Luan Juanjuan Yang Feng miao Peifeng Wei College of Pharmacy and First Clinical Medical College Shaanxi University of Chinese MedicineXianyangShaanxi ProvinceChina National Drug Clinical Trial Agency The Second Affiliated Hospital of Shaanxi University of Chinese Medicine/Xixian New District Central HospitalXi′anShaanxi ProvinceChina

The functional and structural integrity of the blood-brain barrier is crucial in maintaining homeostasis in the brain microenvironment;however,the molecular mechanisms underlying the formation and function of the blood-brain barrier remain poorly *** major facilitator superfamily domain containing 2A has been identified as a key regulator of blood-brain barrier *** plays a critical role in promoting and maintaining the formation and functional stability of the blood-brain barrier,in addition to the transport of lipids,such as docosahexaenoic acid,across the blood-brain ***,an increasing number of studies have suggested that major facilitator superfamily domain containing 2A is involved in the molecular mechanisms of blood-brain barrier dysfunction in a variety of neurological diseases;however,little is known regarding the mechanisms by which major facilitator superfamily domain containing 2A affects the blood-brain *** paper provides a comprehensive and systematic review of the close relationship between major facilitator superfamily domain containing 2A proteins and the blood-brain barrier,including their basic structures and functions,cross-linking between major facilitator superfamily domain containing 2A and the blood-brain barrier,and the in-depth studies on lipid transport and the regulation of blood-brain barrier *** comprehensive systematic review contributes to an in-depth understanding of the important role of major facilitator superfamily domain containing 2A proteins in maintaining the structure and function of the blood-brain barrier and the research progress to *** will not only help to elucidate the pathogenesis of neurological diseases,improve the accuracy of laboratory diagnosis,and optimize clinical treatment strategies,but it may also play an important role in prognostic *** addition,the effects of major facilitator superfamily domain containing 2A on blood-brain barrier lea

关键词： blood-brain barrier(BBB) caveolin-1 central nervous system docosahexaenoic acid endothelial cells lysophosphatidylcholine major facilitator superfamily domain containing 2A(MFSD2A) transcytosis

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