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RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model

Journal of Genetics and Genomics 2024年第12期51卷 1389-1403页

作者： Ji-Won Park Tae-Ik Choi Tae-Yoon kim Yu-Ri Lee Dilan Wellalage Don jaya k.george-abraham Laurie A.Robak Cristina C.Trandafir Pengfei Liu Jill A.Rosenfeld Tae Hyeong kim Florence Petit Yoo-Mi kim Chong kun Cheon Yoonsung Lee Cheol-Hee kim Department of Biology Chungnam National UniversityDaejeon 34134Republic of Korea Department of Pediatrics The University of Texas at Austin Dell Medical SchoolAustinTX 78723USA Department of Molecular and Human Genetics Baylor College of MedicineHoustonTX 77030USA Baylor Genetics Laboratories HoustonTX 77021USA Department of Pediatrics Kyung Hee University Hospital at GangdongSeoul 05278Republic of Korea Univ.Lille CHU LilleClinique de g en etique Guy FontaineF-59000 LilleFrance Department of Pediatrics Chungnam National University Sejong HospitalSejong 30099Republic of Korea Department of Pediatrics Pusan National University Children’s HospitalYangsan 50612Republic of Korea Research Institute for Convergence of Biomedical Science and Technology Pusan National University Yangsan HospitalYangsan 50612Republic of Korea Clinical Research Institute Kyung Hee University Hospital at GangdongSchool of MedicineKyung Hee UniversitySeoul 05278Republic of Korea

Williams syndrome(WS)is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23,characterized by intellectual disability,distinctive craniofacial and dental features,and cardiovascular *** studies have explored the roles of individual genes within these microdeletions in contributing to WS ***,we report five patients with WS with 1.4 Mb-1.5 Mb microdeletions that include RFC2,as well as one patient with a 167-kb microdeletion involving RFC2 and six patients with intragenic variants within *** investigate the potential involvement of RFC2 in WS pathogenicity,we generate a rfc2 knockout(kO)zebrafish using CRISPR-Cas9 ***,we generate a kO zebrafish of its paralog gene,rfc5,to better understand the functions of these RFC genes in development and *** rfc2 and rfc5 kO zebrafish exhibit similar phenotypes reminiscent of WS,including small head and brain,jaw and dental defects,and vascular ***-seq analysis reveals that genes associated with neural cell survival and differentiation are specifically affected in rfc2 kO *** addition,heterozygous rfc2 kO adult zebrafish demonstrate an anxiety-like behavior with increased social *** results suggest that RFC2 may contribute to the pathogenicity of WS,as evidenced by the zebrafish model.

关键词： Williams syndrome RFC2 RFC5 Zebrafish knockout CRISPR-Cas9

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Intelligent integrated sensing and communication:a survey

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Science China(Information Sciences) 2025年第03期68卷 5-46页

作者： Jifa ZHANG Weidang LU Chengwen XING Nan ZHAO Naofal AL-DHAHIR george k.kARAGIANNIDIS Xiaoniu YANG School of Information and Communication Engineering Dalian University of Technology College of Information Engineering Zhejiang University of Technology School of Information and Electronics Beijing Institute of Technology Department of Electrical and Computer Engineering The University of Texas at Dallas Department of Electrical and Computer Engineering Aristotle University of Thessaloniki

Integrated sensing and communication (ISAC) is a promising technique to increase spectral efficiency and support various emerging applications by sharing the spectrum and hardware between these functionalities. However, the traditional ISAC schemes are highly dependent on the accurate mathematical model and suffer from the challenges of high complexity and poor performance in practical scenarios. Recently, artificial intelligence (AI) has emerged as a viable technique to address these issues due to its powerful learning capabilities, satisfactory generalization capability, fast inference speed, and high adaptability for dynamic environments, facilitating a system design shift from model-driven to data-driven. Intelligent ISAC, which integrates AI into ISAC, has been a hot topic that has attracted many researchers to investigate. In this paper, we provide a comprehensive overview of intelligent ISAC, including its motivation, typical applications, recent trends, and challenges. In particular, we first introduce the basic principle of ISAC, followed by its key techniques. Then, an overview of AI and a comparison between model-based and AI-based methods for ISAC are provided. Furthermore, the typical applications of AI in ISAC and the recent trends for AI-enabled ISAC are reviewed. Finally, the future research issues and challenges of intelligent ISAC are discussed.

关键词： artificial intelligence deep learning deep reinforcement learning federated learning generative artificial intelligence integrated sensing and communication machine learning transfer learning

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Trajectory controllability of fractional dynamical systems

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Journal of Control and Decision 2017年第2期4卷 114-130页

作者： Venkatesan Govindaraj Muslim Malik Raju k.george Department of Mathematics Indian Institute of Space Science and TechnologyTrivandrumIndia School of Basic Sciences Indian Institute of Technology MandiMandiIndia

In this paper,we discuss the trajectory controllability of linear and nonlinear fractional dynamical systems represented by the fractional differential equations in the sense of Caputo fractional derivative by using the Mittag-Leffler function and Gronwall-Bellman *** the nonlinear system,we assume Lipschitz-type conditions on the *** are given to illustrate the theoretical results.

关键词： Fractional derivative trajectory controllability Mittag-Leffler function Gronwall-Bellman inequality Lipschitz continuity

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Geochemistry and petrogenesis of magnesian high-k granitoids from Bundelkhand Craton,Central India:New insights into crustal evolution

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Acta Geochimica 2025年第1期44卷 36-58页

作者： Shailendra k.Prajapati Meraj Alam Parashar Mishra Hemant kumar Geological Survey of India Northern RegionLucknowUP 226024India Department of Geology Indira Gandhi National Tribal UniversityAmarkantakMP 484887India

Background The Bundelkhand Craton is significant for preserving the multiphase granitoids magmatism from Paleoarchean to Neoarchean *** consists of a variety of granite rocks,including TTGs,sanukitoids,and high-k *** study presents geochemical characteristics of high-silica(68.97 wt.%–73.99 wt.%),low-silica(58.73wt.%–69.94 wt.%),and high k_(2)O(2.77 wt.%–6.16 wt.%)contents of *** The data on Bundelkhand Craton’s granitic magmatism and geodynamics is not sufficiently *** data from this study will be used to further understand the origin,source,and petrogenesis of granitoid rocks and their implications for the evolution of *** Twenty-one samples were collected and analyzed for major,trace,and REE *** elements were measured using X-ray fluorescence spectrometry(XRF),and trace and REE elements were analyzed by *** procedures from the Geological Survey of India were *** The geochemical analysis presents high-silica(68.97-73.99 wt.%),low-silica(58.73-69.94 wt.%),and high k_(2)O(2.77-6.16 wt.%)contents in granitoids,classified as *** rocks are calcic to calcalkalic,magnesian,and range from peraluminous to metaluminous *** patterns showed strong LREE enrichment relative to HREEs,with prominent negative Eu anomalies corresponding to earlier plagioclase ***-element patterns revealed negative anomalies in Nb,Sr,P,and Ti and positive anomalies in *** The geochemical signatures attributed to the post-collisional magma generation and continental crustal *** studied rocks show A-type and A2-type lineage,suggesting they originated from the melting of continental crust during transitional/post-collisional tectonic *** formation of hybrid granitoids in the Bundelkhand Craton is connected to the fractionation of hybrid magmas in shallow-seated magma chambers during these tectonic processes.

关键词： Geochemistry Petrogenesis A-type granites Crustal evolution Bundelkhand craton

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Spherical quantum dot described by a scalar exponential potential under the influence of a linear electric field

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Communications in Theoretical Physics 2025年第2期77卷 172-175页

作者： k Bakke Departamento de Física Universidade Federal da Paraíba

We study the confinement of a spinless charged particle to a spherical quantum dot under the influence of a linear electric field. The spherical quantum dot is described by a short-range potential given by the power-exponential potential. Then, by analysing the region near the spherical quantum dot centre, we discuss two cases where the energy levels can be obtained for s-waves and how the linear electric field modifies the spectrum of energy of the spherical quantum dot.

关键词： spherical quantum dot power-exponential potential short-range potential linear electric field

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Regression analysis of squeezing-induced hybrid nanofluid flow in Darcy-Forchheimer porous medium

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Applied Mathematics and Mechanics(English Edition) 2025年第1期46卷 193-208页

作者： k.MUHAMMAD M.SARFRAZ Department of Humanities and Sciences School of Electrical Engineering and Computer Science National University of Sciences and Technology Department of Mathematics Quaid-i-Azam University

This article presents a mathematical model addressing a scenario involving a hybrid nanofluid flow between two infinite parallel plates. One plate remains stationary, while the other moves downward at a squeezing velocity. The space between these plates contains a Darcy-Forchheimer porous medium. A mixture of water-based fluid with gold(Au) and silicon dioxide(Si O2) nanoparticles is formulated. In contrast to the conventional Fourier's heat flux equation, this study employs the Cattaneo-Christov heat flux equation. A uniform magnetic field is applied perpendicular to the flow direction, invoking magnetohydrodynamic(MHD) effects. Further, the model accounts for Joule heating, which is the heat generated when an electric current passes through the fluid. The problem is solved via NDSolve in MATHEMATICA. Numerical and statistical analyses are conducted to provide insights into the behavior of the nanomaterials between the parallel plates with respect to the flow, energy transport, and skin *** findings of this study have potential applications in enhancing cooling systems and optimizing thermal management strategies. It is observed that the squeezing motion generates additional pressure gradients within the fluid, which enhances the flow rate but reduces the frictional drag. Consequently, the fluid is pushed more vigorously between the plates, increasing the flow velocity. As the fluid experiences higher flow rates due to the increased squeezing effect, it spends less time in the region between the plates. The thermal relaxation, however, abruptly changes the temperature, leading to a decrease in the temperature fluctuations.

关键词： convective boundary condition Darcy-Forchheimer medium hybrid nanofluid Joule heating magnetohydrodynamic (MHD) numerical solution O175.2 O361 regression analysis squeezing flow

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Photoluminescence upgradation of La_(2)MgTiO_(6):2%Dy^(3+) perovskite with monovalent(Li^(+)),divalent(Ba^(2+),Sr^(2+)) and trivalent(Bi^(3+),Sm^(3+))cation sensitization

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Journal of Rare Earths 2025年第1期43卷 47-56,I0002页

作者： V.P.Veena k.Arun C.k.Shilpa S.V.Jasira k.M.Nissamudeen School of Pure and Applied Physics Kannur UniversityPayyanur CampusEdatKannurKrala67 India Department of Nanoscience and Nanotechnology Kannur UniversityPayyanur CampusEdatkannurKerala670327India

Nano phosphors of 2%Dy^(3+)(wt%)doped La_(2)MgTiO_(6) and monovalent/divalent/trivalent co-doped La_(1.98)Dy_(0.02)MgTiO_(6):x%A^(y+)(A^(y+):Li+,Ba^(2+),Sr^(2+),Bi^(3+),and Sm^(3+);0≤x≤2 wt%)were synthesized by combustion *** the XRD data,it is deduced that an increase in the valency of co-dopant increases the crystallinity of the double perovskite orthorhombic nanocrystal *** an increase in co-dopant size,an elevation in optical bandgap is visible with the highest bandgap of 3.835 eV for Bi^(3+).The photo-absorption is monotonically broadened for Sr^(2+),Sm^(3+),and Li+around 200-450 ***351 nm,Dy^(3+)triggered lattice shows major characteristic emission peaks at 480 nm(^(4)F_(9/2)→^(6)H_(15/2)),574 nm(^(4)F_(9/2)→^(6)H_(13/2)),and 670 nm(^(4)F_(9/2)→^(6)H_(11/2)).leading to near white light emission with CIE coordinates(0.341,0.376).Upon co-doping,the PL intensity is significantly increased with maximum emission for trivalent Sm^(3+),followed by divalent Sr^(2+)and monovalent Li+*** increasing excitation wavelength,Sr^(2+)shows a dominated output and it is found that divalent Sr^(2+)is a potential codopant that could enhance luminescence intensity up to 6 times with a Sr^(2+)→Dy^(3+)energy transfer efficiency of 86%.It is specified that the CIE coordinates of Li+co-doped samples show ideal white emission with color coordinates(0.333,0.336).The concluding outcomes signify the noblest rare earth Sm^(3+)co-doping and thus Sm^(3+)→Dy^(3+)energy transfer mechanism is discussed in detail.

关键词： Photoluminescence Perovskite WLED Co-doping Rareearths

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Honeycomb-spiderweb-inspired self-similar hybrid cellular structures for impact applications

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Defence Technology(防务技术) 2025年第1期43卷 182-200页

作者： k.Tewari M.k.Pandit M.M.Mahapatra P.R.Budarapu School of Mechanical Sciences Indian Institute of Technology BhubaneswarBhubaneswar752050India

Inspired by nature's self-similar designs,novel honeycomb-spiderweb based self-similar hybrid cellular structures are proposed here for efficient energy absorption in impact *** energy absorption is enhanced by optimizing the geometry and topology for a given *** proposed hybrid cellular structure is arrived after a thorough analysis of topologically enhanced self-similar *** optimized cell designs are rigorously tested considering dynamic loads involving crush and high-velocity bullet ***,the influence of thickness,radial connectivity,and order of patterning at the unit cell level are also *** maximum crushing efficiency attained is found to be more than 95%,which is significantly higher than most existing traditional *** on,the first and second-order hierarchical self-similar unit cell designs developed during crush analysis are used to prepare the cores for sandwich *** tests are performed on the developed sandwich structures using the standard 9-mm *** influence of multistaging on impact resistance is also investigated by maintaining a constant total thickness and mass of the sandwich ***,in order to avoid layer-wise weak zones and hence,attain a uniform out-of-plane impact strength,off-setting the designs in each stage is *** sandwich structures with first and second-order self-similar hybrid cores are observed to withstand impact velocities as high as 170 m/s and 270 m/s,respectively.

关键词： Sandwich structures Honeycomb-spider web inspired Self-similar hierarchy Crush analysis High-velocity impact Strong and weak zones Multistaging

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Characterization and source apportionment of volatile organic compounds in Hong kong:A 5-year study for three different archetypical sites

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Journal of Environmental Sciences 2025年第5期151卷 424-440页

作者： Yuchen Mai Vincent Cheung Peter k.k.Louie kenneth Leung Jimmy C.H.Fung Alexis k.H.Lau Donald R.B.lake Dasa Gu Division of Environment and Sustainability The Hong Kong University of Science and TechnologyHong Kong 999077China Environmental Protection Department Hong Kong 999077China Environment and Ecology Bureau Hong Kong 999077China Department of Chemistry University of CaliforniaIrvine 92617USA

Initial success has been achieved in Hong kong in controlling primary air pollutants,but ambient ozone levels kept increasing during the past three *** organic compounds(VOCs)are important for mitigating ozone pollution as its major *** study analyzed VOC characteristics of roadside,suburban,and rural sites in Hong kong to investigate their compositions,concentrations,and source *** showthat the TVOC concentrations were 23.05±13.24,12.68±15.36,and 5.16±5.48 ppbv for roadside,suburban,and rural sites between May 2015 to June 2019,*** using Positive Matrix Factorization(PMF)model,six sources were identified at the roadside site over five years:Liquefied petroleum gas(LPG)usage(33%–46%),gasoline evaporation(8%–31%),aged air mass(11%–28%),gasoline exhaust(5%–16%),diesel exhaust(2%–16%)and fuel filling(75–9%).Similarly,six sources were distinguished at the suburban site,including LPG usage(30%–33%),solvent usage(20%–26%),diesel exhaust(14%–26%),gasoline evaporation(8%–16%),aged air mass(4%–11%),and biogenic emissions(2%–5%).At the rural site,four sources were identified,including aged airmass(33%–51%),solvent usage(25%–30%),vehicular emissions(11%–28%),and biogenic emissions(6%–12%).The analysis further revealed that fuel filling and LPG usage were the primary contributors to OFP and OH reactivity at the roadside site,while solvent usage and biogenic emissions accounted for almost half of OFP and OH reactivity at the suburban and rural sites,*** findings highlight the importance of identifying and characterizing VOC sources at different sites to help policymakers develop targeted measures for pollution mitigation in specific areas.

关键词： Volatile organic compounds Positive matrix factorization Source apportionment Ozone formation

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Early Detection of Heartbeat from Multimodal Data Using RPA Learning with kDNN-SAE

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Computer Systems Science & Engineering 2023年第4期45卷 545-562页

作者： A.k.S.Saranya T.jaya Department of Electronics and Communication Engineering Ponjesly College of EngineeringNagercoilIndia Department of Electronics and Communication Engineering CSI Institute of TechnologyNagercoilIndia

Heartbeat detection stays central to cardiovascular an electrocardiogram(ECG)is used to help with disease diagnosis and *** Convolutional Neural Network(CNN)-based methods suffer from the less generalization problem thus;the effectiveness and robustness of the traditional heartbeat detector methods cannot be *** contrast,this work proposes a heartbeat detector krill based Deep Neural Network Stacked Auto Encoders(kDNN-SAE)that computes the disease before the exact heart rate by combining features from multiple ECG *** are classified independently and multiple signals are fused to estimate life threatening conditions earlier without any error in classification of heart *** work contained Training and testing stages,in the preparation part at first the Adaptive Filter Enthalpy-based Empirical Mode Decomposition(EMD)is utilized to eliminate the motion artifact in the *** that point,the robotic process automation(RPA)learning part extracts the effective features are extracted,and normalized the value of the feature then estimated utilizing the RPA loss *** last kDNN-SAE prepared training for the data stored in the *** the subsequent stage,input signal compute motion artifact and RPA Learning the evaluation part determines the detection of *** early diagnosis of heart failures is an essential *** results of the experiments show that our proposed method has a high score outcome of *** to the CIF,which reaches *** CNN and Artificial Neural Network(ANN)had less score 0.95115 and 0.90147.

关键词： Deep neural network krill herd optimization stack auto-encoder adaptive filter enthalpy based empirical mode decomposition robotic process automation

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