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Toward understanding the role of genomic repeat elements in neurodegenerative diseases 被引量:1
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作者 Zhengyu An Aidi Jiang Jingqi Chen 《Neural Regeneration Research》 SCIE CAS 2025年第3期646-659,共14页
Neurodegenerative diseases cause great medical and economic burdens for both patients and society;however, the complex molecular mechanisms thereof are not yet well understood. With the development of high-coverage se... Neurodegenerative diseases cause great medical and economic burdens for both patients and society;however, the complex molecular mechanisms thereof are not yet well understood. With the development of high-coverage sequencing technology, researchers have started to notice that genomic repeat regions, previously neglected in search of disease culprits, are active contributors to multiple neurodegenerative diseases. In this review, we describe the association between repeat element variants and multiple degenerative diseases through genome-wide association studies and targeted sequencing. We discuss the identification of disease-relevant repeat element variants, further powered by the advancement of long-read sequencing technologies and their related tools, and summarize recent findings in the molecular mechanisms of repeat element variants in brain degeneration, such as those causing transcriptional silencing or RNA-mediated gain of toxic function. Furthermore, we describe how in silico predictions using innovative computational models, such as deep learning language models, could enhance and accelerate our understanding of the functional impact of repeat element variants. Finally, we discuss future directions to advance current findings for a better understanding of neurodegenerative diseases and the clinical applications of genomic repeat elements. 展开更多
关键词 Alzheimer's disease ATAXIA deep learning long-read sequencing NEURODEGENERATION neurodegenerative diseases Parkinson's disease repeat element structural variant
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Leucine-Rich Repeat Protein Family Regulates Stress Tolerance and Development in Plants 被引量:1
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作者 HAO Zhiqi WANG Tingyi +4 位作者 CHEN Dongdong SHEN Lan ZHANG Guangheng QIAN Qian ZHU Li 《Rice science》 2025年第1期32-43,共12页
The leucine-rich repeat(LRR)protein family is involved in a variety of fundamental metabolic and signaling processes in plants,including growth and defense responses.LRR proteins can be divided into two categories:tho... The leucine-rich repeat(LRR)protein family is involved in a variety of fundamental metabolic and signaling processes in plants,including growth and defense responses.LRR proteins can be divided into two categories:those containing LRR domains along with other structural elements,which are further subdivided into five groups,LRR receptor-like kinases,LRR receptor-like proteins,nucleotide-binding site LRR proteins,LRR-extensin proteins,and polygalacturonase-inhibiting proteins,and those containing only LRR domains.Functionally,various LRR proteins are primarily involved in plant development and responses to environmental stress.Notably,the LRR protein family plays a central role in signal transduction pathways related to stress adaptation.In this review,we classify and analyze the functions of LRR proteins in plants.While extensive research has been conducted on the roles of LRR proteins in disease resistance signaling,these proteins also play important roles in abiotic stress responses.This review highlights recent advances in understanding how LRR proteins mediate responses to biotic and abiotic stresses.Building upon these insights,further exploration of the roles of LRR proteins in abiotic stress resistance may aid efforts to develop rice varieties with enhanced stress and disease tolerance. 展开更多
关键词 leucine-rich repeat CLASSIFICATION FUNCTION stress tolerance plant development
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Search for Dispersed Repeats in Oryza sativa Genome Using Iterative Procedure Method
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作者 Valentina RUDENKO Eugene KOROTKOV 《Rice science》 2025年第4期472-474,共3页
In this study,we searched for dispersed repeats(DRs)in the rice(Oryza sativa)genome using the iterative procedure(IP)method.The results revealed that the O.sativa genome contained 79 DR families,comprising 992739 DNA ... In this study,we searched for dispersed repeats(DRs)in the rice(Oryza sativa)genome using the iterative procedure(IP)method.The results revealed that the O.sativa genome contained 79 DR families,comprising 992739 DNA repeats,of which 496762 and 495977 were identified on the forward and reverse DNA strands,respectively.The detected DRs were,on average,374 bp in length and occupied 66.4%of the O.sativa genome.Totally 61%of DRs,identified by the IP method,overlapped with previously annotated dispersed repeats(ADRs)detected using the Extensive De Novo TE Annotator(EDTA)pipeline. 展开更多
关键词 Oryza sativa genome dna repeatsof iterative procedure annotated dispersed repeats dispersed repeats drs de novo TE annotator dispersed repeats
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Factors Influencing the Choice of Mode of Delivery in Women with Repeat Pregnancies after Cesarean Delivery
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作者 Wenli Chen 《Open Journal of Obstetrics and Gynecology》 2025年第2期213-223,共11页
The increasing rate of cesarean delivery has become a widespread concern worldwide, nearly half of which is due to previous cesarean deliveries, and elective repeat cesarean delivery (ERCD), which is the main option f... The increasing rate of cesarean delivery has become a widespread concern worldwide, nearly half of which is due to previous cesarean deliveries, and elective repeat cesarean delivery (ERCD), which is the main option for women who have a second pregnancy after cesarean section, is a major factor in this increase. The trial of labor after cesarean section (TOLAC) is considered to be the best method, and the safety and feasibility of TOLAC have been confirmed by numerous studies, but in clinical practice, there are many factors that make TOLAC unsuccessful. This article reviews the factors that influence the choice of delivery method after cesarean section as follows. 展开更多
关键词 Trial of Labor after Cesarean Section Elective repeat Cesarean Delivery Influence Factor
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Genome-wide profiling of polymorphic short tandem repeats and their influence on gene expression and trait variation in diverse rice populations
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作者 Xiyu Tan Wanyong Zeng +7 位作者 Yujian Yang Zhansheng Lin Fuquan Li Jianhong Liu Shaotong Chen Yao-Guang Liu Weibo Xie Xianrong Xie 《Journal of Genetics and Genomics》 2025年第6期733-746,共14页
Short tandem repeats(STRs)modulate gene expression and contribute to trait variation.However,a systematic evaluation of the genomic characteristics of STRs has not been conducted,and their influence on gene expression... Short tandem repeats(STRs)modulate gene expression and contribute to trait variation.However,a systematic evaluation of the genomic characteristics of STRs has not been conducted,and their influence on gene expression in rice remains unclear.Here,we construct a map of 137,629 polymorphic STRs in the rice(Oryza sativa L.)genome using a population-scale resequencing dataset.A genome-wide survey encompassing 4726 accessions shows that the occurrence frequency,mutational patterns,chromosomal distribution,and functional properties of STRs are correlated with the sequences and lengths of repeat motifs.Leveraging a transcriptome dataset from 127 rice accessions,we identify 44,672 expression STRs(eSTRs)by modeling gene expression in response to the length variation of STRs.These eSTRs are notably enriched in the regulatory regions of genes with active transcriptional signatures.Population analysis identifies numerous STRs that have undergone genetic divergence among different rice groups and 1726 tagged STRs that may be associated with agronomic traits.By editing the(ACT)_(7) STR in OsFD1 promoter,we further experimentally validate its role in regulating gene expression and phenotype.Our study highlights the contribution of STRs to transcriptional regulation in plants and establishes the foundation for their potential use as alternative targets for genetic improvement. 展开更多
关键词 Gene expression Genomic variation Rice Short tandem repeat STR Transcriptional regulation
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Delivery Modes and Their Effects on Mothers and Neonates in Cases of Repeat Pregnancy with Uterine Scars
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作者 Hongyu Wang Tiantian Chen 《Journal of Clinical and Nursing Research》 2025年第1期27-31,共5页
Objective:To investigate the delivery modes of women with repeat pregnancies involving uterine scars and their effects on both mothers and neonates.Methods:A study was conducted on 100 patients treated at Shenzhen Mat... Objective:To investigate the delivery modes of women with repeat pregnancies involving uterine scars and their effects on both mothers and neonates.Methods:A study was conducted on 100 patients treated at Shenzhen Maternity and Child Healthcare Hospital from July 2023 to July 2024.The participants were divided into a control group and an observation group,with 50 cases in each.The division was based on the indications for prior cesarean section,cervical maturity,postpartum complications,and thickness of the cesarean scar.The control group underwent cesarean delivery,while the observation group experienced vaginal delivery.The two groups were compared in terms of intrapartum blood loss,postpartum blood loss within 2 hours,length of hospital stay,Apgar scores at 1-minute post-birth,and incidences of neonatal fever and jaundice.Results:The observation group had significantly lower intrapartum blood loss,postpartum blood loss within 2 hours,and shorter hospital stays compared to the control group(P<0.05).Additionally,the Apgar scores at 1 minute post-birth were significantly higher in the observation group(P<0.05).The incidence of neonatal fever and jaundice was significantly lower in the observation group(P<0.05).These differences were statistically significant.Conclusion:Vaginal delivery has high clinical value for women with repeat pregnancies involving uterine scars.It reduces maternal intrapartum and postpartum blood loss,shortens hospital stays,improves neonatal Apgar scores,and decreases the incidences of neonatal fever and jaundice.This method is worthy of clinical application and promotion. 展开更多
关键词 Uterine scars repeat pregnancy Delivery mode Cesarean section Vaginal delivery
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Repeat ablation and single-session ablation in patients with multiple colorectal cancer liver metastases after chemotherapy failure
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作者 Si-Qi Gao Bo-Wen Zhang +1 位作者 Qi-Yu Zhao Tian-An Jiang 《World Journal of Gastroenterology》 2025年第43期88-100,共13页
BACKGROUND The feasibility and safety of radiofrequency ablation(RFA)for oligometastatic colorectal liver metastases(CRLM)have been well established.However,the role of RFA in multiple metastases after first-line chem... BACKGROUND The feasibility and safety of radiofrequency ablation(RFA)for oligometastatic colorectal liver metastases(CRLM)have been well established.However,the role of RFA in multiple metastases after first-line chemotherapy failure remains underexplored.AIM To assess long-term survival and factors affecting outcomes of RFA in patients with multiple refractory CRLM.METHODS A retrospective study was conducted on patients who underwent ablation of CRLM at our institution between January 2015 and June 2024.A total of 80 patients were included,with 42 individuals receiving single-session ablation and 38 underwent repeat ablation.Enhanced computed tomography imaging was utilized to evaluate procedural efficacy 24 hours post-RFA,followed by follow-up scans every 3-4 months.Progression-free survival(PFS)and overall survival(OS)rates were compared at endpoint using Kaplan-Meier curves.Cox regression was used to identify the factors associated with OS and PFS.RESULTS The technical success rate was recorded at 98.7%.At endpoint,42(52.5%)patients achieved tumor-free survival,while 28(35%)remained alive with residual tumors present.No significant OS/PFS differences existed between single-session(median follow-up 29.5 months,median PFS 24.5 months)and repeat ablation(30 months,14 months)cohorts(P>0.05).Multivariate analysis showed that larger tumor size(P<0.001)and older age(P=0.01)were associated with worse OS.The median PFS was 13.5 months,with tumor size emerging as the only independent predictor(P=0.04).CONCLUSION For patients with multiple refractory CRLM,both single-session ablation and repeat ablation can increase the proportion of patients achieving tumor-free status.However,careful consideration is necessary for ablation of metastases larger than 2.7 cm. 展开更多
关键词 Colorectal liver metastases Radiofrequency ablation repeat ablation REFRACTORY Long-term survival Chemotherapy failure
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Anti-interference methods for narrowband and repeater-modulation interference in airborne SAR systems
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作者 Kai Chen Yong-Bo Zhao +3 位作者 Kai Jiang Long Sun Kun Deng Chang-Chun Ding 《Journal of Electronic Science and Technology》 2025年第3期1-12,共12页
With the advancement of electronic countermeasures,airborne synthetic aperture radar(SAR)systems are facing increasing challenges in maintaining effective performance in hostile environments.In particular,high-power i... With the advancement of electronic countermeasures,airborne synthetic aperture radar(SAR)systems are facing increasing challenges in maintaining effective performance in hostile environments.In particular,high-power interference can severely degrade SAR imaging and signal processing,often rendering target detection impossible.This highlights the urgent need for robust anti-interference solutions in both the signal processing and image processing domains.While current methods address interference across various domains,techniques such as waveform modification and spatial filtering typically increase the system costs and complexity.To overcome these limitations,we propose a novel approach that leverages the multi-domain characteristics of interference to efficiently suppress narrowband interference and repeater modulation interference.Specifically,narrowband interference is mitigated using notch filtering,a signal processing technique that effectively filters out unwanted frequencies,while repeater modulation interference is addressed through strong signal amplitude normalization,which enhances both the signal and image processing quality.These methods were validated through tests on real SAR data,demonstrating significant improvements in the imaging performance and system robustness.Our approach offers valuable insights for advancing anti-interference technologies in SAR systems and provides a cost-effective solution to enhance their resilience in complex electronic warfare environments. 展开更多
关键词 Airborne radar Narrowband interference repeater modulation interference Signal and image processing ANTI-INTERFERENCE
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Exploiting a No-Regret Opponent in Repeated Zero-Sum Games
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作者 LI Kai HUANG Wenhan +1 位作者 LI Chenchen DENG Xiaotie 《Journal of Shanghai Jiaotong university(Science)》 2025年第2期385-398,共14页
In repeated zero-sum games,instead of constantly playing an equilibrium strategy of the stage game,learning to exploit the opponent given historical interactions could typically obtain a higher utility.However,when pl... In repeated zero-sum games,instead of constantly playing an equilibrium strategy of the stage game,learning to exploit the opponent given historical interactions could typically obtain a higher utility.However,when playing against a fully adaptive opponent,one would have dificulty identifying the opponent's adaptive dynamics and further exploiting its potential weakness.In this paper,we study the problem of optimizing against the adaptive opponent who uses no-regret learning.No-regret learning is a classic and widely-used branch of adaptive learning algorithms.We propose a general framework for online modeling no-regret opponents and exploiting their weakness.With this framework,one could approximate the opponent's no-regret learning dynamics and then develop a response plan to obtain a significant profit based on the inferences of the opponent's strategies.We employ two system identification architectures,including the recurrent neural network(RNN)and the nonlinear autoregressive exogenous model,and adopt an efficient greedy response plan within the framework.Theoretically,we prove the approximation capability of our RNN architecture at approximating specific no-regret dynamics.Empirically,we demonstrate that during interactions at a low level of non-stationarity,our architectures could approximate the dynamics with a low error,and the derived policies could exploit the no-regret opponent to obtain a decent utility. 展开更多
关键词 no-regret learning repeated game opponent exploitation opponent modeling dynamical system system identification recurrent neural network(RNN)
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Bridge RNA-Guided Genetic Recombination Tools for Treating Neurodegenerative Nucleotide Repeat Disorders
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作者 Fengshi Li Jingyu Yu +3 位作者 Peng Wang Tianwen Li Qisheng Tang Jianhong Zhu 《Neuroscience Bulletin》 2025年第4期734-736,共3页
Genome rearrangement is an important process that leads to genetic diversity,including mutation-related insertions,deletions,or inversions in the genome[1,2].
关键词 genetic diversityincluding genome rearrangement mutation related insertions neurodegenerative nucleotide repeat disorders deletions inversions RNA guided genetic recombination
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Nucleotide-binding domain,leucine-rich repeat,and pyrin domaincontaining protein 3 inflammasome:From action mechanism to therapeutic target in clinical trials
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作者 Chun-Ye Zhang Shuai Liu +1 位作者 Yu-Xiang Sui Ming Yang 《World Journal of Gastrointestinal Oncology》 2025年第2期6-16,共11页
The nucleotide-binding domain,leucine-rich repeat,and pyrin domain-containing protein 3(NLRP3)inflammasome is a critical modulator in inflammatory disease.Activation and mutation of NLRP3 can cause severe inflammation... The nucleotide-binding domain,leucine-rich repeat,and pyrin domain-containing protein 3(NLRP3)inflammasome is a critical modulator in inflammatory disease.Activation and mutation of NLRP3 can cause severe inflammation in diseases such as chronic infantile neurologic cutaneous and articular syndrome,Muckle-Wells syndrome,and familial cold autoinflammatory syndrome 1.To date,a great effort has been made to decode the underlying mechanisms of NLRP3 activation.The priming and activation of NLRP3 drive the maturation and release of active interleukin(IL)-18 and IL-1βto cause inflammation and pyroptosis,which can significantly trigger many diseases including inflammatory diseases,immune disorders,metabolic diseases,and neurodegenerative diseases.The investigation of NLRP3 as a therapeutic target for disease treatment is a hot topic in both preclinical studies and clinical trials.Developing potent NLRP3 inhibitors and downstream IL-1 inhibitors attracts wide-spectrum attention in both research and pharmaceutical fields.In this minireview,we first updated the molecular mechanisms involved in NLRP3 inflammasome activation and the associated downstream signaling pathways.We then reviewed the molecular and cellular pathways of NLRP3 in many diseases,including obesity,diabetes,and other metabolic diseases.In addition,we briefly reviewed the roles of NLRP3 in cancer growth and relative immune checkpoint therapy.Finally,clinical trials with treatments targeting NLRP3 and its downstream signaling pathways were summarized. 展开更多
关键词 Nucleotide-binding domain leucine-rich repeat and pyrin domain-containing protein 3 Metabolic disease INFLAMMATION Cancer IMMUNOTHERAPY Clinical trial
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The pentatricopeptide repeat protein AL5 modulates early chloroplast development in rice
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作者 Jingjing Zhang Tong Chen +4 位作者 Yicai Huang Gaokun Chen Tingting Xu Yiran Liu Zemin Zhang 《The Crop Journal》 2025年第5期1386-1396,共11页
Chloroplasts are essential for normal plant growth and development.In plants,pentatricopeptide repeat(PPR)proteins mediate RNA processing in chloroplasts.Here,we characterized a rice albino leaf 5(al5)mutant which exh... Chloroplasts are essential for normal plant growth and development.In plants,pentatricopeptide repeat(PPR)proteins mediate RNA processing in chloroplasts.Here,we characterized a rice albino leaf 5(al5)mutant which exhibits albinism during early leaf development.The MutMap+analysis and transformation experiments revealed that AL5 encodes a chloroplast-localized P-type PPR protein.The AL5 mutation resulted in the defective splicing of ribosomal protein L2(rpl2)and ribosomal protein S12(rps12),which are involved in the synthesis of chloroplast 50S and 30S ribosomal subunits,respectively.The RNA-electrophoretic mobility shift assay(REMSA)further demonstrated that AL5 directly binds to rpl2 transcripts.Finally,disruption of AL5 led to reduced expression of plastid-encoded polymerase(PEP)-dependent plastid genes and nuclear-encoded photosynthetic genes.Notably,the albino al5 mutant phenotype was regulated by low temperature.These results suggest that AL5 participates in plastid RNA splicing and plays an important role in chloroplast development in rice. 展开更多
关键词 Albino Leaf 5(Al5)mutant MutMap+ Pentatricopeptide repeat protein(PPR) RNA splicing Chloroplast development
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Nonperiodic interrupted sampling repeater jamming suppression for inverse synthetic aperture radar
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作者 WU Qihua ZHAO Feng +3 位作者 ZHAO Tiehua LIU Xiaobin XU Zhiming XIAO Shunping 《Journal of Systems Engineering and Electronics》 2025年第4期940-950,共11页
Nonperiodic interrupted sampling repeater jamming(ISRJ)against inverse synthetic aperture radar(ISAR)can obtain two-dimensional blanket jamming performance by joint fast and slow time domain interrupted modulation,whi... Nonperiodic interrupted sampling repeater jamming(ISRJ)against inverse synthetic aperture radar(ISAR)can obtain two-dimensional blanket jamming performance by joint fast and slow time domain interrupted modulation,which is obviously dif-ferent from the conventional multi-false-target deception jam-ming.In this paper,a suppression method against this kind of novel jamming is proposed based on inter-pulse energy function and compressed sensing theory.By utilizing the discontinuous property of the jamming in slow time domain,the unjammed pulse is separated using the intra-pulse energy function diffe-rence.Based on this,the two-dimensional orthogonal matching pursuit(2D-OMP)algorithm is proposed.Further,it is proposed to reconstruct the ISAR image with the obtained unjammed pulse sequence.The validity of the proposed method is demon-strated via the Yake-42 plane data simulations. 展开更多
关键词 jamming suppression compressed sensing(CS) interrupted sampling repeater jamming(ISRJ) energy function inverse synthetic aperture radar(ISAR).
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Fibrin glue sealing for repeat Descemet’s membrane detachment after deep anterior lamellar keratoplasty:case reports
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作者 Xue-Qin Gong Bi-Shan Tian +2 位作者 Jin-Yu Zhang Chun-Xiao Wang Shi-You Zhou 《International Journal of Ophthalmology(English edition)》 2025年第7期1398-1400,共3页
Dear Editor,We report a surgical method for treating repeat Descemet’s membrane(DM)detachments in two cases with DM micro-perforation during deep anterior lamellar keratoplasty(DALK).DM micro-perforation is a common ... Dear Editor,We report a surgical method for treating repeat Descemet’s membrane(DM)detachments in two cases with DM micro-perforation during deep anterior lamellar keratoplasty(DALK).DM micro-perforation is a common intraoperative complication that occurs during the performance of DM baring in DALK,using methods such as the bigbubble air technique[1].The sequelae of DM micro-perforations include postoperative DM detachments,higher endothelial cell loss,endothelial decompensation,and transplant interface scarring[2]. 展开更多
关键词 bigbubble air technique repeat Descemets membrane detachment transplant interface scarr fibrin glue sealing dm micro perforation surgical method deep anterior lamellar keratoplasty dalk dm deep anterior lamellar keratoplasty
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Repeatability,interocular correlation and agreement of optic nerve head vessel density in healthy eyes:a sweptsource optical coherence tomographic angiography study 被引量:2
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作者 Dan-Qi Fang Da-Wei Yang +2 位作者 Xiao-Ting Mai Carol Y Cheung Hao-Yu Chen 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第5期896-903,共8页
AIM:To assess the repeatability,interocular correlation,and agreement of quantitative swept-source optical coherence tomography angiography(OCTA)optic nerve head(ONH)parameters in healthy subjects.METHODS:Thir ty-thre... AIM:To assess the repeatability,interocular correlation,and agreement of quantitative swept-source optical coherence tomography angiography(OCTA)optic nerve head(ONH)parameters in healthy subjects.METHODS:Thir ty-three healthy subjects were enrolled.The ONH of both eyes were imaged four times by a swept-source-OCTA using a 3 mm×3 mm scanning protocol.Images of the radial peripapillary capillary were analyzed by a customized Matlab program,and the vessel density,fractal dimension,and vessel diameter index were measured.The repeatability of the four scans was determined by the intraclass correlation coefficient(ICC).The most well-centered optic disc from the four repeated scans was then selected for the interocular correlation and agreement analysis using the Pearson correlation coefficient,ICC and Bland-Altman plots.RESULTS:All swept-source-OCTA ONH parameters exhibited certain repeatability,with ICC>0.760 and coefficient of variation(CoV)≤7.301%.The obvious interocular correlation was observed for papillary vessel density(ICC=0.857),vessel diameter index(ICC=0.857)and fractal dimension(ICC=0.906),while circumpapillary vessel density exhibited moderate interocular correlation(ICC=0.687).Bland-Altman plots revealed an agreement range of-5.26%to 6.21%for circumpapillary vessel density.CONCLUSION:OCTA ONH parameters demonstrate good repeatability in healthy subjects.The interocular correlations of papillary vessel density,fractal dimension and vessel diameter index are high,but the correlation for circumpapillary vessel density is moderate. 展开更多
关键词 interocular correlation repeatABILITY optic nerve head optical coherence tomography angiography vessel density
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Comparative analyses of mitogenomes in the social bees with insights into evolution of long inverted repeats in the Meliponini 被引量:1
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作者 Yu-Ran Li Zheng-Wei Wang +1 位作者 Richard T.Corlett Wen-Bin Yu 《Zoological Research》 SCIE CSCD 2024年第1期160-175,共16页
The insect mitogenome is typically a compact circular molecule with highly conserved gene contents.Nonetheless,mitogenome structural variations have been reported in specific taxa,and gene rearrangements,usually the t... The insect mitogenome is typically a compact circular molecule with highly conserved gene contents.Nonetheless,mitogenome structural variations have been reported in specific taxa,and gene rearrangements,usually the tRNAs,occur in different lineages.Because synapomorphies of mitogenome organizations can provide information for phylogenetic inferences,comparative analyses of mitogenomes have been given increasing attention.However,most studies use a very few species to represent the whole genus,tribe,family,or even order,overlooking potential variations at lower taxonomic levels,which might lead to some incorrect inferences.To provide new insights into mitogenome organizations and their implications for phylogenetic inference,this study conducted comparative analyses for mitogenomes of three social bee tribes(Meliponini,Bombini,and Apini)based on the phylogenetic framework with denser taxonomic sampling at the species and population levels.Comparative analyses revealed that mitogenomes of Apini and Bombini are the typical type,while those of Meliponini show diverse variations in mitogenome sizes and organizations.Large inverted repeats(IRs)cause significant gene rearrangements of protein coding genes(PCGs)and rRNAs in Indo-Malay/Australian stingless bee species.Molecular evolution analyses showed that the lineage with IRs have lower dN/dS ratios for PCGs than lineages without IRs,indicating potential effects of IRs on the evolution of mitochondrial genes.The finding of IRs and different patterns of gene rearrangements suggested that Meliponini is a hotspot in mitogenome evolution.Unlike conserved PCGs and rRNAs whose rearrangements were found only in the mentioned lineages within Meliponini,tRNA rearrangements are common across all three tribes of social bees,and are significant even at the species level,indicating that comprehensive sampling is needed to fully understand the patterns of tRNA rearrangements,and their implications for phylogenetic inference. 展开更多
关键词 Social bees PHYLOGENY Mitogenome structure Gene rearrangement Inverted repeats
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GATA binding protein 2 mediated ankyrin repeat domain containing 26 high expression in myeloid-derived cell lines 被引量:1
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作者 Yang-Zhou Jiang Lan-Yue Hu +11 位作者 Mao-Shan Chen Xiao-Jie Wang Cheng-Ning Tan Pei-Pei Xue Teng Yu Xiao-Yan He Li-Xin Xiang Yan-Ni Xiao Xiao-Liang Li Qian Ran Zhong-Jun Li Li Chen 《World Journal of Stem Cells》 SCIE 2024年第5期538-550,共13页
BACKGROUND Thrombocytopenia 2,an autosomal dominant inherited disease characterized by moderate thrombocytopenia,predisposition to myeloid malignancies and normal platelet size and function,can be caused by 5’-untran... BACKGROUND Thrombocytopenia 2,an autosomal dominant inherited disease characterized by moderate thrombocytopenia,predisposition to myeloid malignancies and normal platelet size and function,can be caused by 5’-untranslated region(UTR)point mutations in ankyrin repeat domain containing 26(ANKRD26).Runt related transcription factor 1(RUNX1)and friend leukemia integration 1(FLI1)have been identified as negative regulators of ANKRD26.However,the positive regulators of ANKRD26 are still unknown.AIM To prove the positive regulatory effect of GATA binding protein 2(GATA2)on ANKRD26 transcription.METHODS Human induced pluripotent stem cells derived from bone marrow(hiPSC-BM)INTRODUCTION Ankyrin repeat domain containing protein 26(ANKRD26)acts as a regulator of adipogenesis and is involved in the regulation of feeding behavior[1-3].The ANKRD26 gene is located on chromosome 10 and shares regions of homology with the primate-specific gene family POTE.According to the Human Protein Atlas database,the ANKRD26 protein is localized to the Golgi apparatus and vesicles,and its expression can be detected in nearly all human tissues[4].Moreover,UniProt annotation revealed that ANKRD26 is localized in the centrosome and contains coiled-coil domains formed by spectrin helices and ankyrin repeats[5,6].The most common disease related to ANKRD26 is thrombocytopenia 2(THC2),which is a rare autosomal dominant inherited disease characterized by lifelong mild-to-moderate thrombocytopenia and mild bleeding[7-9].Caused by the variants in the 5’-untranslated region(UTR)of ANKRD26,THC2 is defined by a decrease in the number of platelets in circulating blood and results in increased bleeding and decreased clotting ability[8,10].Due to the point mutations that occur in the 5’-UTR of ANKRD26,its negative transcription factors(TFs),Runt related transcription factor 1(RUNX1)and friend leukemia integration 1(FLI1),lose their repression effect[11].The persistent expression of ANKRD26 increases the activity of the mitogen activated protein kinase and extracellular signal regulated kinase 1/2 signaling pathways,which are potentially involved in the regulation of thrombopoietin-dependent signaling and further impair proplatelet formation by megakaryocytes(MKs)[11].However,the positive regulators of ANKRD26,which might be associated with THC2 pathology,are still unknown. 展开更多
关键词 Ankyrin repeat domain containing 26 GATA binding protein 2 Thrombocytopenia 2 Transcriptional regulation Myeloid-derived cell lines
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CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
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作者 Yan Shi Chunyan Cao +16 位作者 Yiheng Zeng Yuanliang Ding Long Chen Fuze Zheng Xuejiao Chen Fanggui Zhou Xiefeng Yang Jinjing Li Liuqing Xu Guorong Xu Minting Lin Hiroyuki Ishiura Shoji Tsuji Ning Wang Zhiqiang Wang Wan-Jin Chen Kang Yang 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2024年第2期184-196,共13页
CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with leukoencephalopathy.However,since only three patients from a single family were reported,it remai... CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with leukoencephalopathy.However,since only three patients from a single family were reported,it remains unknown whether their clinicopathological features are typical for CGG repeat expansions in LOC642361/NUTM2B-AS1.Here,using repeat-primed-polymerase chain reaction and long-read sequencing,we identify 12 individuals from 3 unrelated families with CGG repeat expansions in LOC642361/NUTM2B-AS1,typically presenting with oculopharyngodistal myopathy.The CGG repeat expansions range from 161 to 669 repeat units.Most of the patients present with ptosis,restricted eye movements,dysphagia,dysarthria,and diffuse limb muscle weakness.Only one patient shows T2-weighted hyperintensity in the cerebellar white matter surrounding the deep cerebellar nuclei on brain magnetic resonance imaging.Muscle biopsies from three patients show a myopathic pattern and rimmed vacuoles.Analyses of muscle biopsies suggest that CGG repeat expansions in LOC642361/NUTM2B-AS1 may deleteriously affect aggrephagic capacity,suggesting that RNA toxicity and mitochondrial dysfunction may contribute to pathogenesis.Our study thus expands the phenotypic spectrum for the CGG repeat expansion of LOC642361/NUTM2B-AS1 and indicates that this genetic variant typically manifests as oculopharyngodistal myopathy with chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions in muscle fibers. 展开更多
关键词 Oculopharyngeal myopathy with LEUKOENCEPHALOPATHY Oculopharyngodistal myopathy CGG repeat expansion Rimmed vacuoles
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Analytical Solution for Plastic Responses of Metal Beams under Repeated Impacts Based on Membrane Factor Method
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作者 GUO Kai-ling ZHANG Yi-jiang +1 位作者 MU Meng-ying ZHU Ling 《船舶力学》 EI CSCD 北大核心 2024年第12期1891-1907,共17页
Marine structures are frequently subjected to repeated impact loadings,resulting in failure of the structures,even causing serious accidents.The analytical expressions of dimensionless permanent deflection and impact ... Marine structures are frequently subjected to repeated impact loadings,resulting in failure of the structures,even causing serious accidents.The analytical expressions of dimensionless permanent deflection and impact force of a metal beam based on maximal normal yield surface are derived by membrane factor method(MFM),then the results are compared with repeated impact tests.It can be found that the solutions based on MFM are between the upper and lower bounds,and very close to the results of the repeated impact tests,indicating the theoretical model proposed can predict the plastic responses of the metal beam accurately.What’s more,the influences of impact location and boundary condition on the dynamic responses of the beam subjected to repeated impacts are determined.Results show that,as the distance of impact location from the middle span of the beam increases,the permanent deflection decreases,while the impact force increases.Meanwhile,the influences of impact location enhance as the impact number increases.When the permanent deflection is smaller than the thickness,the effect of boundary condition on the plastic responses is significant.However,when the deflection is larger than the thickness,the beam will be like a string and only axial force works,resulting in little influence of boundary condition on the plastic responses of the beam. 展开更多
关键词 repeated impact theoretical analysis membrane factor method impact location boundary condition
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Study on cumulative effects of biological craniocerebral trauma under repeated blast
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作者 Xingyuan Huang Bingchen Xia +3 位作者 Lijun Chang Zhikang Liao Hui Zhao Zhihua Cai 《Theoretical & Applied Mechanics Letters》 CAS CSCD 2024年第3期174-183,共10页
Repeated blast impacts on personnel in explosive environments can exacerbate craniocerebral trauma.Most existing studies focus on the injury effects of a single blast,lacking in-depth analysis on the injury effects an... Repeated blast impacts on personnel in explosive environments can exacerbate craniocerebral trauma.Most existing studies focus on the injury effects of a single blast,lacking in-depth analysis on the injury effects and cumulative effects of repeated blasts.Therefore,rats were used as the experimental samples to suffer from explosion blasts with different peak air overpressures(167 kPa~482 kPa)and varying number of repeated blasts.The cumulative effect of craniocerebral trauma was most pronounced for moderate repeated blast,showing approximately 95%increase of trauma severity with penta blast,and an approximately 85%increase of trauma severity with penta minor blast.The cumulative effect of craniocerebral trauma from severe,repeated blast has a smaller rate of change compared to the other two conditions.The severity of trauma from penta blast increased by approximately 69%compared to a single blast.Comprehensive physiological,pathological and biochemical analysis show that the degree of neurological trauma caused by repeated blasts is higher than that of single blasts,and the pathological trauma to brain tissue is more extensive and severe.The trauma degree remains unchanged after double blast,increases by one grade after triple or quadruple blast,and increases by two grades after penta blast. 展开更多
关键词 repeated blast Craniocerebral trauma Trauma severity grade Cumulative effects
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