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

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

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Genetic pathways in cerebral palsy:a review of the implications for precision diagnosis and understanding disease mechanisms

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Neural Regeneration Research 2024年第7期19卷 1499-1508页

作者： Yiran Xu Yifei Li Seidu A.richard Yanyan Sun Changlian Zhu henan Key Laboratory of Child Brain Injury and henan Pediatric Clinical Research Center Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan ProvinceChina National health Council(NhC)Key Laboratory of Birth Defects Prevention Henan Key Laboratory of Population Defects PreventionZhengzhouHenan ProvinceChina Department of human Anatomy School of Basic Medicine and Institute of NeuroscienceZhengzhou UniversityZhengzhouHenan ProvinceChina Center for Brain Repair and Rehabilitation Institute of Neuroscience and PhysiologyUniversity of GothenburgGothenburgSweden

Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and *** with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal *** disturbances severely impact the child’s daily life and impose a substantial economic burden on the *** cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and *** review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy *** is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa *** pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still ***,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy *** r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular ***,exploring targeted genotypes holds potential for precision *** conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral *** breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical *** investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management *** elucidating the underlying cellular mechanisms,w

关键词： cerebral palsy environmental factors etiology genetic factors genetic mutation movement disorder spastic diplegia

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Nearest Neighbor Sampling of Point Sets Using Rays

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Communications on Applied Mathematics and Computation 2024年第2期6卷 1131-1174页

作者： Liangchen Liu Louis Ly Colin B.Macdonald richard Tsai Department of Mathematics The University of Texas at Austin2515 SpeedwayAustinTX 78712USA Oden Institute for Computational Engineering and Sciences The University of Texas at Austin201 E24th StAustinTX 78712USA Department of Mathematics University of British Columbia1984 Mathematics RdVancouverBCV6T1Z2Canada

We propose a new framework for the sampling,compression,and analysis of distributions of point sets and other geometric objects embedded in Euclidean *** approach involves constructing a tensor called the RaySense sketch,which captures nearest neighbors from the underlying geometry of points along a set of *** explore various operations that can be performed on the RaySense sketch,leading to different properties and potential *** information about the data set can be extracted from the sketch,independent of the ray *** integrals on point sets can be efficiently computed using the *** also present several examples illustrating applications of the proposed strategy in practical scenarios.

关键词： Point clouds Sampling Classification Registration Deep learning Voronoi cell analysis

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Autolysosomal acidification impairment as a mediator for TNFR1 induced neuronal necroptosis in Alzheimer’s disease

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Neural Regeneration Research 2024年第9期19卷 1869-1870页

作者： Evridiki Asimakidou richard Reynolds Anna M.Barron Chih hung Lo Department of Clinical Neurosciences University of CambridgeCambridgeUK Department of Brain Sciences Faculty of MedicineImperial College LondonLondonUK Lee Kong Chian School of Medicine Nanyang Technological UniversitySingaporeSingapore

Neuronal necroptosis-an emerging form of regulated cell death associated with neuroinflammatory signaling:Alzheimer’s disease(AD)is characterized by the presence of extracellular amyloid-β(Aβ)plaques and intracellular tau neurofibrillary tangles as well as progressive neuronal *** evidence has suggested that prolonged neuroinflammation with increased levels of cytokines,arising from neuronal injury,innate immune responses from glial cells,and peripheral inflammation,leads to neuronal death and AD progression.

关键词： Alzheimer death tau Aβ

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Free vibration and buckling analysis of polymeric composite beams reinforced by functionally graded bamboo fbers

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Applied Mathematics and Mechanics(English Edition) 2024年第3期45卷 543-562页

作者： h.M.FEIZABAD M.h.YAS Department of Mechanical Engineering Razi UniversityKermanshah ***Iran

Natural fibers have been extensively researched as reinforcement materials in polymers on account of their environmental and economic advantages in comparison with synthetic fibers in the recent *** fibers are renowned for their good mechanical properties,abundance,and short cycle *** beams are one of the fundamental structural components and are susceptible to mechanical loads in engineering applications,this paper performs a study on the free vibration and buckling responses of bamboo fiber reinforced composite(BFRC)beams on the elastic *** different functionally graded(FG)layouts and a uniform one are the considered distributions for unidirectional long bamboo fibers across the *** elastic properties of the composite are determined with the law of *** hamilton’s principle,the governing equations of motion are *** generalized differential quadrature method(GDQM)is then applied to the equations to obtain the *** achieved outcomes exhibit that the natural frequency and buckling load values vary as the fiber volume fractions and distributions,elastic foundation stiffness values,and boundary conditions(BCs)and slenderness ratio of the beam ***,a comparative study is conducted between the derived analysis outcomes for BFRC and homogenous polymer beams to examine the effectiveness of bamboo fibers as reinforcement materials,demonstrating the significant enhancements in both vibration and buckling responses,with the exception of natural frequencies for cantilever beams on the Pasternak foundation with the FG-◇fiber ***,the obtained analysis results of BFRC beams are also compared with those for carbon nanotube reinforced composite(CNTRC)beams found in the literature,indicating that the buckling loads and natural frequencies of BFRC beams are lower than those of CNTRC beams.

关键词： bamboo fiber free vibration buckling analysis functionally graded(FG)beam elastic foundation generalized differential quadrature method(GDQM)

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Comparative analyses of mitogenomes in the social bees with insights into evolution of long inverted repeats in the Meliponini

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Zoological Research 2024年第1期45卷 160-175页

作者： Yu-Ran Li Zheng-Wei Wang richard T.Corlett Wen-Bin Yu Yunnan Key Laboratory for the Conservation of Tropical Rainforests and Asian Elephants&Center for Integrative Conservation Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesMenglaYunnan 666303China CAS Key Laboratory of Tropical Forest Ecology Xishuangbanna Tropical Botanical GardenChinese Academy of SciencesMenglaYunnan 666303China Southeast Asia Biodiversity Research Institute Chinese Academy of SciencesMenglaYunnan 666303China University of Chinese Academy of Sciences Shijingshan DistrictBeijing 100049China

The insect mitogenome is typically a compact circular molecule with highly conserved gene ***,mitogenome structural variations have been reported in specific taxa,and gene rearrangements,usually the tRNAs,occur in different *** synapomorphies of mitogenome organizations can provide information for phylogenetic inferences,comparative analyses of mitogenomes have been given increasing ***,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 *** 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 *** analyses revealed that mitogenomes of Apini and Bombini are the typical type,while those of Meliponini show diverse variations in mitogenome sizes and *** inverted repeats(IRs)cause significant gene rearrangements of protein coding genes(PCGs)and rRNAs in Indo-Malay/Australian stingless bee *** 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 *** finding of IRs and different patterns of gene rearrangements suggested that Meliponini is a hotspot in mitogenome *** 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.

关键词： Social bees Phylogeny Mitogenome structure Gene rearrangement Inverted repeats

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Using clinical cases to guide healthcare

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World Journal of Clinical Cases 2024年第9期12卷 1555-1559页

作者： Michael Colwill Samantha Baillie richard Pollok Andrew Poullis Department of Gastroenterology St George's University Hospital NHS Foundation TrustLondon SW170QTUnited Kingdom

Evidence-based practice(EBP)has been the gold standard in healthcare for nearly three centuries and aims to assist physicians in providing the safest and most effective healthcare for their *** well-established hierarchy of evidence lists systematic reviews and meta-analyses at the top however these methodologies are not always appropriate or possible and in these instances case-control studies,case series and case reports are utilised to support ***-control studies allow simultaneous study of multiple risk factors and can be performed rapidly and relatively cheaply.A recent example was during the Coronavirus pandemic where case-control studies were used to assess the efficacy of personal protective equipment for healthcare *** series and case reports also play a role in EBP and are particularly useful to study rare diseases such as inflammatory bowel disease in transgender and gender non-conforming *** are also vital in generating and disseminating early signals and encouraging further *** these methodologies have weaknesses,particularly with regards to bias and loss of patient confidentiality for rare pathologies,they have an important part to play in EBP and when appropriately utilised can significantly impact upon clinical practice.

关键词： Evidence based medicine hierarchy of evidence Case reports Case series

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Conservation genomic investigation of an endangered conifer,Thuja sutchuenensis,reveals low genetic diversity but also low genetic load

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Plant Diversity 2024年第1期46卷 78-90页

作者： Tongzhou Tao richard IMilne Jialiang Li heng Yang Shiyang Wang Sihan Chen Kangshan Mao Key Laboratory for Bio-Resource and Eco-Environment of Ministry of Education&Sichuan Zoige Alpine Wetland Ecosystem National Observation and Research Station College of Life ScienceSichuan UniversityChengduChina Institute of Molecular Plant Science School of Biological ScienceUniversity of EdinburghEdinburgh EH93BFUK College of Science Tibet UniversityLhasa 850000Xizang Autonomous RegionPR China

Endangered species generally have small populations with low genetic diversity and a high genetic *** sutchuenensis is an endangered conifer endemic to southwestern *** was once considered extinct in the wild,but in 1999 was ***,little is known about its genetic *** collected 67 individuals from five wild,isolated *** populations,and used 636,151 SNPs to analyze the level of genetic diversity and genetic load in *** to delineate the conservation units of ***,based on whole transcriptome sequencing data,as well as target capture sequencing *** found that populations of *** could be divided into three *** groups had low levels genetic diversity and were moderately genetically *** findings also indicate that *** suffered two severe bottlenecks around the Last Glaciation Period and Last Glacial *** Thuja species,*** presented the lowest genetic load and hence might have purged deleterious mutations efficiently through purifying ***,distribution of fitness effects analysis indicated a high extinction risk for *** lines of evidence identified three management units for *** *** possesses a low genetic load,low genetic diversity,suboptimal fitness,and anthropogenic pressures all present an extinction risk for this rare *** might also hold true for many endangered plant species in the mountains all over the world.

关键词： Sichuan Arborvitae Genetic load Deleterious mutations Demographic history Conservation genomics

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Convexification of hybrid AC-DC Optimal Power Flow with Line-Commutated Converters

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CSEE Journal of Power and Energy Systems 2024年第2期10卷 617-628页

作者： hongyuan Liang Zhigang Li J.h.Zheng Q.h.Wu School of Electric Power Engineering South China University of TechnologyGuangzhou 510641China

Line-commutated converter (LCC)-based high-voltage DC (hVDC) systems have been integrated with bulk AC power grids for interregional transmission of renewable power. The nonlinear LCC model brings additional nonconvexity to optimal power flow (OPF) of hybrid AC-DC power grids. A convexification method for the LCC station model could address such nonconvexity but has rarely been discussed. We devise an equivalent reformulation for classical LCC station models that facilitates second-order cone convex relaxation for the OPF of LCC-based AC-DC power grids. We also propose sufficient conditions for exactness of convex relaxation with its proof. Equivalence of the proposed LCC station models and properties, exactness, and effectiveness of convex relaxation are verified using four numerical simulations. Simulation results demonstrate a globally optimal solution of the original OPF can be efficiently obtained from relaxed model.

关键词： AC-DC power system convex relaxation linecommutated converter optimal power flow second-order cone programming

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Shell-model representations of the microscopic version of the Bohr–Mottelson collective model

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Communications in Theoretical Physics 2024年第8期76卷 81-92页

作者： h G Ganev Joint Institute for Nuclear Research Dubna Russia Institute of Mechanics Bulgarian Academy of Sciences

The structure of the irreducible collective spaces of the group Sp（12, R）, which many-particle nuclear states are classified according to the chain Sp（12, R） ? U（6） ? SO（6） ? SUpn（3） ■SO（2） ? SO（3） of the proton–neutron symplectic model（PNSM）, is considered in detail. This chain of the PNSM was recently shown to correspond to a microscopic shell-model version of the Bohr–Mottelson collective model. The construction of the relevant shell-model representations of the Sp（12, R） group along this chain is considered for three nuclei with varying collective properties and from different mass regions. It is shown that the SUpn（3） basis states of the Sp（12, R） representations belonging to the SO（6） irreps with seniority υ ≥ υ0, with υ0denoting the maximal seniority SO（6） irrep contained in the Sp（12, R） bandhead, are always Pauli allowed, but organized in a different way into different SO（6） shells. This is in contrast to the case of filling the levels of the standard three-dimensional harmonic oscillator and using the plethysm operation. Although the SUpn（3） multiplets within υ hem. The results obtained in the present work are important for the practical application of the microscopic version of the Bohr–Mottelson collective model.

关键词： microscopic shell-model version of the Bohr-Mottelson model proton-neutron symplectic model shell-model representations Sp(12, R) dynamical algebra

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