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印度家族中先天性白内障的突变分析:sNPs和CRYBB2基因中新的致病性等位基因的鉴定

世界核心医学期刊文摘（眼科学分册） 2005年第2期1卷 35-36页

作者： santhiya s.t. Manisastry s.M. Rawlley D. J. Graw 齐翔云 GsF-Natl. Res. Ctr. Environ./Hlth. Institute of Developmental Genetics Ingolstüadter Landstr. 1 D-85764 Neuherberg Germany

PURPOsE. to study some functional candidate genes in cataract families of Indi an descent. MEtHODs. Nine Indian families, clinically documented to have congeni tal/childhood cataracts, were screened for mutations in candidate genes such as CRYG (A→D), CRYBB2, and GJA8 by PCR analyses and sequencing. Genomic DNA sample s of either probands or any representative affected member of each family were P CR amplified and sequenced commercially. Documentation of single nucleotide poly morphisms (sNPs) and candidate mutations was done through BLAst sEARCH(http://ww ***/ blast/Blast.- cgi?). REsULts. several single nucleotide polymorphisms in CRYG, CRYBB2, and G JA8 genes were observed. Because they do not co-segregate with the phenotype, t hey were excluded as candidates for the cataract formation in these patients. However, a substitution (W151C in exon 6 of CRYBB2) was identi fied as.t.e most likely caus.t.ve mutation underlying the phenotype of central n uclear cataract in all affected members of family C176. Protein structural inter pretations demonstrated that no major structural alterations could be predicted and that even the hydrogen bonds.t. the neighboring Leu166 were unchanged. surpr isingly, hydropathy analysis of the mutant βB2-crystallin featuring the amino acids at pos.t.on 147 to 155, further increased the hydrophobicity, which might impair the solubility of the mutant protein. Finally, the Cys residue at pos.t.o n 151 might possibly be involved in intramolecular disulphide bridges with other cysteines during translation, possibly leading to dramatic structural changes. CONCLUsIONs. Exon 6 of CRYBB2 appears.t. be a critical region susceptible for mu tations leading to lens opacity.

关键词：先天性白内障 CRYBB2 突变分析 sNPs 致病性白内障形成先证者候选基因核性白内障晶状体混浊

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Evaluation of red soil-bentonite mixtures for compacted clay liners

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Journal of Rock Mechanics and Geotechnical Engineering 2024年第2期16卷 697-710页

作者： A.s.Devapriya t.thyagaraj Department of Civil Engineering Indian Institute of Technology MadrasChennai600036India

Compacted clay liners are an integral part of the waste landfills,which are provided to contain the leachate within the landfills and protect the surrounding ***,locally available natural soils are used for the construction of compacted clay liners if they s.t.sfy the design ***,not all soils in their natural state s.t.sfy all the design criteria for the liner ***,there is a definite need to modify the locally available natural soils by blending with bentonite to meet the required design criteria for the *** view of this.t.e present study evaluates.t.e suitability of an Indian red soil enhanced with bentonite as a liner *** achieve this,a series of experiments were carried out using locally available red soil and ***,the suitability of the red soil was evaluated as a liner *** experimental results showed that the red soil met all the selection criteria stipulated by the Environmental Protection Agencies(EPAs)for the liners except the hydraulic conductivity ***,the red soil was mixed with bentonite contents of 10%,20%and 30%,and the red soil-bentonite mixtures were evaluated for their suitability for liners in their compacted ***,as.t.e liners in the arid and semi-arid regions are subjected to moisture variations due to seasonal moisture fluctuations and other factors.t.e red soil-bentonite mixtures were subjected to wetdry cycles,and their suitability was evaluated after wet-dry *** experimental results revealed that all the red soil-bentonite mixtures met the stipulated EPA criteria for the liners in the as-compacted ***,the red soil-bentonite mixtures with 20%and 30%bentonite contents only s.t.sfied the hydraulic conductivity requirement even after wet-dry *** experimental findings were supplemented with the microstructural insights captured through digital camera images,scanning electron microscopy(sEM),and mercury intrusion porosimetry(M

关键词： Compacted clay lines Hydraulic conductivity Wet-dry cycles Microstructure

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Physics of porous materials under extreme laser-generated conditions

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Matter and Radiation at Extremes 2024年第3期9卷 1-3页

作者： V.t.tikhonchuk s.Weber Extreme Light Infrastructure ERIC ELI Beamlines Facility25241 DolníBrezanyCzech Republic CELIA University of Bordeaux33405 TalenceFrance

Porous materials offer unique possibilities for the production of plasmas with controlled dens.t. profiles for experiments on laser–matter *** are of growing relevance to many applications,such as inertial confinement fusion,fundamental research,and secondary *** the processes of transformation of a porous solid into a plasma is of fundamental interest and is needed for producing materials with desired properties.

关键词： interaction. properties. porous

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tensor force impact on shell evolution in neutron-rich si and Ni is.t.pes

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Chinese Physics C 2024年第4期48卷 95-106页

作者： s.V.sidorov A.s.Kornilova t.Yu.tretyakova Faculty of Physics Lomonosov Moscow State UniversityMoscow 119991Russia skobeltsyn Institute of Nuclear Physics Lomonosov Moscow State UniversityMoscow 119991Russia

the influence of the tensor interaction of nucleons on the characteristics of neutron-rich silicon and nickel is.t.pes was studied in this *** forces are considered within the framework of the Hartree-Fock approach with the skyrme *** addition of a tensor component of interaction is shown to improve the description of the splittings between different single-particle states and decrease nucleon-nucleon pairing correlations in silicon and nickel *** attention was directed toward the role of isovector tensor forces relevant to the interaction of like nucleons.

关键词： nuclear shell model tensor interaction silicon is.t.pes nickel is.t.pes

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Mathematical modelling of ball and plate system with experimental and correlation function-based model validation

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Control theory and technology 2024年第2期22卷 326-341页

作者： t.R.Dil Kumar s.J.Mija Department of Electrical Engineering National Institute of Technology CalicutKozhikode673601KeralaIndia

the ball and plate system is an inherently nonlinear under actuated benchmark system used for validating the performance of various control schemes. A mathematical model depicting the dynamics close to that of the system is very much required for such a test bed. In this correspondence, the complete nonlinear model, a simplified nonlinear model, and a linearized model of the ball and plate system are developed. the system comprises a ball and plate mechanism and a rotary servo unit. the ball and plate mechanism is modelled using the Euler–Lagrange method, whereas.t.e rotary servo subsystem is modelled from the first principles. the nonlinear model of the combined system is developed by including the dynamics of the servo motor with gear and rolling resistance between the ball and the plate. the simplified nonlinear model of the system is obtained with suitable assumptions. the model is linearized around the operating point using the Jacobian. the validity of the developed models is investigated through correlation function analysis. the open-loop response of the three models, viz., nonlinear, simplified nonlinear, and linearized models, is analyzed in the MAtLAB/simulink platform. since the open-loop system is unstable, the experimental validation of the model is performed with a double-loop PsO (particle swarm optimization) PID control scheme.

关键词： Ball and plate system Correlation function Model validation Particle swarm optimization(PsO) PsO PID controller

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Grazing Pressure and Plant Functional types in Puna Highlands,Northwestern Argentina

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Phyton-International Journal of Experimental Botany 2024年第5期93卷 1067-1080页

作者： Quiroga Mendiola Mariana tálamo Andrés IPAF NOA—INtA(National Institute for Agricultural technology) Posta de HornillosJujuy4622Argentina Facultad de Ciencias Naturales Universidad Nacional de SaltaSalta4400Argentina Instituto de Bio y Geociencias del NOA(IBIGEO) UNSa-CONICET.Laboratorio de Ecología Aplicada a la Conservación(LEAC)Facultad de Ciencias NaturalesUniversidad Nacional de SaltaSalta4400Argentina Maestría en Gestión Ambiental Escuela de NegociosUniversidad Católica de Salta(UCASAL)Salta4400Argentina

the Puna grasslands support grazing systems.t.at produce meat and wool in multi-species herds,especially from llama(Lama glama)and ***,it is yet unknown whether grazing pressure can modify grassland structure and Plant Functional types divers.t. and cover in Puna *** analyzed the relationship between grazing pressure and Plant Functional types by comparing transects located near stockyards(high grazing pressure)and far from them(low pressure)and by evaluating the relationship between the Plant Functional types cover to a Grazing Pressure Index(GPI).this index incorporates.t.e heterogeneity of traditional pastoral *** two ecological s.t.s(Ciénego and tolar),we sampled paired transects(near-far).Plots near and far from corrals were similar in all the variables measured except for plots in tolar,which tend to have higher total cover,possibly due to fecal fertilization near ***,we recorded an increase in total cover and grass cover at higher GPI in Ciénego,while in tolar we found lower values of total cover and herbaceous dicotyledonous cover at intermediate intens.t.es of *** only negative relationship found was.t.e cover of clonal and non-clonal shrubs,possibly explained by the greater use of these shrubs as firewood near *** summary,our study does not show important changes in Plant Functional types as a function of grazing pressure in the studied grasslands probably because grazing pressure is diluted or diminished when livestock rotates in different areas and grazing durations ***,the long grazing history with which the Puna has evolved could also contribute to the co-structuration between native vegetation and livestock farming.

关键词： Natural grasslands Puna herbivory ecological perturbation

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QCD sum rule study of J^(P)=1^(±)exotic states with two heavy quarks in the molecular picture

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Chinese Physics C 2024年第6期48卷 31-37页

作者： t.M.Aliev s.Bilmis M.savcı Department of Physics Middle East Technical UniversityAnkara06800Turkey tUBItAK ULAKBIM Ankara06510Turkey

In this study,the spectroscopic parameters of exotic molecular states composed of mesons containing two heavy quarks(scalar-axial and pseudoscalar-axial meson combinations)are investigated within the QCD sum *** findings reveal that molecular states containing charm quarks do not form bound states,whereas states with b-quarks can form exotic molecular *** observation has significant implications for understanding the structure of these exotic states.

关键词： QCD sum rules exotic mesons molecular states

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Analysis of strong decays of sU(3)partners ofΩ(2012)baryon

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Chinese Physics C 2024年第8期48卷 34-41页

作者： t.M.Aliev s.Bilmis M.savci Department of Physics Middle East Technical UniversityAnkara 06800Turkey tUBItAK ULAKBIM Ankara 06510Turkey

We estimate the coupling constants and decay widths of the sU(3)partners of theΩ(2012)hyperon,as discovered by the BELLE Collaboration,using the distribution amplitudes of the octet baryons within the light cone sum rules *** study includes a comparison of the obtained results for the relevant decay widths with those derived within the framework of the flavor sU(3)*** observe a good agreement between the predictions of both ***,our result on the decay width ofΩ→ΞK is compatible with the existing experimental result within the uncertainties of the model *** results can provide helpful insights for determining the nature of the sU(3)partners of theΩ(2012)baryon.

关键词： coupling constants light cone sum rule hyperon

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Assessment of challenges and strategies for driving energy trans.t.ons in emerging markets:A socio-technological systems perspective

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Energy Geoscience 2024年第2期5卷 81-100页

作者： Nelson s.Chipangamate Glen t.Nwaila Wits Mining Institute University of the Witwatersrand1 Jan Smuts Ave.Johannesburg2000South Africa school of Geosciences University of the WitwatersrandPrivate Bag 3Wits2050South Africa

the pursuit of improved quality of life standards has significantly influenced the contemporary mining model in the 21st *** era is witnessing an unprecedented transformation driven by pressing concerns related to sustainability,climate change,the just energy trans.t.on,dynamic operating environments,and complex social *** trans.t.ons present both opportunities and *** aim of this study is.t. provide an extensive literature review on energy trans.t.on to identify the challenges and strategies associated with navigating transformations in energy *** these transformations is particularly critical in the face of the severe consequences of global warming,where an accelerated energy trans.t.on is viewed as a universal *** a socio-technological systems perspective,specifically through the application of Actor Network theory(ANt),this research provides a theoretical foundation while categorising challenges into five distinct domains and outlining strategies across.t.ese different *** insights are specifically tailored for emerging market countries.t. effectively navigate energy trans.t.on while fostering the development of resilient ***,our findings highlight that energy trans.t.on encompasses more than a mere technological shift;it entails fundamental changes in various systemic socio-economic *** focusing on the role of social structures in trans.t.ons.t.is study makes a significant and innovative contribution to ANt,which has historically been criticised for its limited acknowledgement of social ***,we propose an emerging market energy trans.t.on framework,which not only addresses.t.chnological aspects,but also integrates social *** framework paves.t.e way for future research and exploration of energy trans.t.on *** outcomes of this study offer valuable insights.t. policymakers,researchers,and practitioners engaged in t

关键词： Actor network theory Energy trans.t.on social innovation technology Actor inclusive policy

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superplasticity of fine-grained Mg-10Li alloy prepared by severe plastic deformation and understanding its deformation mechanisms

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Journal of Magnesium and Alloys 2024年第1期12卷 316-331页

作者： H.t.Jeong s.W.Lee W.J.Kim Department of Materials science and Engineering Hongik UniversityMapo-guSangsu-dong 72-1Seoul 121-791Republic of Korea

the superplastic behavior and associated deformation mechanisms of a fine-grained Mg-10.1 Li-0.8Al-0.6Zn alloy(LAZ1011)with a grain size of 3.2μm,primarily composed of the BCCβphase and a small amount of the HCPαphase,were examined in a temperature range of 473 K to 623 *** microstructural refinement of this alloy was achieved by employing high-ratio differential speed *** best superplasticity was achieved at 523 K and at strain rates of 10^(-4)-5×10^(-4)s^(-1),where tensile elongations of 550±600%were *** the heating and holding stage of the tensile samples prior to tensile loading,a significant increase in grain size was observed at temperatures above 573 ***,it was important to consider this effect when analyzing and understanding the superplastic deformation behavior and *** the investigated strain rate range,the superplastic flow at low strain rates was governed by lattice diffusion-controlled grain boundary sliding,while at high strain rates,lattice diffusion-controlled dislocation climb creep was.t.e rate-controlling deformation *** was concluded that solute drag creep is unlikely to *** the late stages of deformation at 523 K,it was observed that grain boundary sliding led to the agglomeration of theαphase,resulting in significant strain *** mechanism maps were constructed forβ-Mg-Li alloys in the form of 2D and 3D formats as a function of strain rate,stress.t.mperature,and grain size,using the constitutive equations for various deformation mechanisms derived based on the data of the current tests.

关键词： Magnesium-lithium alloy superplasticity severe plastic deformation Grain size Grain growth

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