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Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A(KAT6A)

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journal of Genetics and Genomics 2020年第10期47卷 650-654页

作者： simr.npr.et kaur.nicole j.van ber.en Bruria Ben-Zeev Emanuela Leonardi Tiong Y.Tan David Coman Benjamin Kamien Susan M.White Miya St john Dean Phelan Kristin Rigbye Sze Chern Lim Michelle C.Torres Melanie Marty Elena Savva Teresa Zhao Sean Massey Alessandra Murgia Wendy A.Gold john Christodoulou Brain and Mitochondrial Research Group Murdoch Children's Research InstituteMelbourneAustralia Department of Paediatrics University of MelbourneMelbourneAustralia Paediatric Neurology Institute The Edmond and Lily Safra Paediatric HospitalSheba Medical CenterTel HaShomerIsrael Sackler School of Medicine Tel Aviv UniversityIsrael Molecular Genetics of Neurodevelopment Department of Woman and Child HealthUniversity of PadovaItaly Fondazione Istituto di Ricerca Pediatrica(IRP) Citta della SperanzaPadovaItaly Victorian Clinical Genetics Services Murdoch Children's Research InstituteMelbourneAustralia Department of Paediatrics The Wesley HospitalBrisbaneBrisbaneAustralia Queensland Children's Hospital BrisbaneAustralia School of Medicine University of QueenslandBrisbaneAustralia Genetic Services of Western Australia Western AustraliaAustralia Faculty of Health and Medical Sciences University of Western AustraliaAustralia Speech and Language Murdoch Children's Research InstituteParkvilleVictoriaAustralia Department of Audiology and Speech Pathology University of MelbourneParkvilleVictoriaAustralia The University of Sydney School of Medical Sciences and Discipline of Child and Adolescent HealthFaculty of Medicine and HealthSydneyAustralia Molecular Neurobiology Lab Kids ResearchWestmead Children's HospitalWestmeadSydneyAustralia Kids Neuroscience Centre Kids ResearchChildren's Hospital at WestmeadWestmeadSydneyAustralia

Pathogenic variants in methyl-Cp G protein 2(MECP2;OMIM300005)result in an X-linked,severe,and progressive epigenetic disorder,Rett syndrome(RTT,OMIM:312750),that predominantly affects females(Rett,1966).Using Neul’s revised diagnostic criteria,affected individuals can be clinically classified as classic or atypical RTT(Neul et al.,2010).

关键词： Rett al. landscape

OTX2 stimulates adult retinal ganglion cell regeneration

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Neural Regeneration Research 2022年第3期17卷 690-696页

作者： Raoul Torero Ibad nicole Quenech’du Alain Prochiantz Kenneth L.Moya Centre for Interdisciplinary Research in Biology(CIRB) Collége de FranceCNRS UMR 7241INSERM U1050Labex MemoLifeParis Sciences et Lettres Research UniversityParisFrance

Retinal ganglion cell(RGC) axons provide the only link between the light sensitive and photon transducing neural retina and visual centers of the *** axon degeneration occurs in a number of blinding diseases and the ability to stimulate axon regeneration from surviving ganglion cells could provide the anatomic substrate for restoration of ***2 is a homeoprotein transcription factor expressed in the retina and previous studies showed that,in response to stress,exogenous OTX2 increases the in vitro and in vivo survival of *** we examined and quantified the effects of OTX2 on adult RGC axon regeneration in vitro and in *** results show that exogenous OTX2 stimulates the regrowth of axons from RGCs in cultures of dissociated adult retinal cells and from explants of adult retinal tissue and that RGCs respond directly to OTX2 as regrowth is observed in cultures of purified adult rat ***,after nerve crush in vivo,we observed a positive effect of OTX2 on the number of regenerating axons up to the optic chiasm within 14 days post crush and a very modest level of acuity absent in control *** effect of OTX2 on RGC survival and regeneration is of potential interest for degenerative diseases affecting this cell *** animal procedures were approved by the local "Comié d'éιthique en expérimentation animale n°59" and authorization n° 00702.01 delivered March 28,2014 by the French "Ministére de l'enseignement supérieur et de la recherche".

关键词： axon regeneration dissociated retinal culture GAP-43 homeoprotein optic nerve crush OTX2 retinal explants retinal ganglion cell

Associations between physical activity levels and ATPase inhibitory factor 1 concentrations in older adults

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journal of Sport and Health Science 2024年第3期13卷 409-418页

作者： jérémy Raffin Yves Rolland Annelise Genoux Guillaume Combes Mikael Croyal bertrand Perret Sophie Guyonnet Bruno Vellas Laurent O.Martinez Philipe de Souto Barreto For the MAPT/DSA Group Institut du Vieillissement Gérontopôle de ToulouseCentre Hospitalo-Universitaire de ToulouseToulouse 31000France Centre d'Epidémiologie et de Recherche en Santédes Populations UnitéMixte de Recherche 1295Institut National de la Santéet de la Recherche MédicaleUniversitéToulouse-III-Paul-SabatierToulouse 31000France LimitAging Team Institut des Maladies Métaboliques et CardiovasculairesUnitéMixte de Recherche 1297Institut National de la Santéet de la Recherche MédicaleUniversitéToulouse III-Paul SabatierToulouse 31432France Service de Biochimie Pôle de biologieHôpital de PurpanCentre Hospitalo-Universitaire de ToulouseToulouse 31300France L'Institut du Thorax Institut National de la Santéet de la Recherche MédicaleCentre National de la Recherche ScientifiqueCentre Hospitalo-Universitaire de NantesNantes UniversitéNantes 44000France BioCore US16Structure Fédérative de Recherche BonamyInstitut National de la Santéet de la Recherche MédicaleCentre National de la Recherche ScientifiqueCentre Hospitalo-Universitaire de NantesNantes UniversitéNantes 44000France Plate-forme de spectrométrie de masse Centre de Recherche en Nutrition HumaineOuestNantes 44000France 不详

Background:Adenosine triphosphatase inhibitory factor 1(IF1)is a key protein involved in energy ***1 has been linked to various agerelated diseases,although its relationship with physical activity(PA)remains ***,the apolipoprotein A-I(apoA-I),a PA-modulated lipoprotein,could play a role in this relationship because it shares a binding site with IF1 on the cell-surface ATP *** examined here the associations between chronic PA and plasma IF1 concentrations among older adults,and we investigated whether apoA-I mediated these ***:In the present work,1096 healthy adults(63.8%females)aged 70 years and over who were involved in the Multidomain Alzheimer Prevention Trial study were ***1 plasma concentrations(square root of ng/mL)were measured at the 1-year visit of the Multidomain Alzheimer Prevention Trial,while PA levels(square root of metabolic equivalent task min/week)were assessed using questionnaires administered each year from baseline to the 3-year *** linear regressions were performed to investigate the associations between the first-year mean PA levels and IF1 *** analyses were conducted to examine whether apoA-I mediated these *** linear regressions were carried out to investigate whether the 1-year visit IF1 concentrations predicted subsequent changes in ***:Multiple linear regressions indicated that first-year mean PA levels were positively associated with IF1 concentrations(B=0.021;SE=0.010;p=0.043).Mediation analyses revealed that about 37.7%of this relationship was mediated by apoA-I(B_(ab)=0.008;SE=0.004;p=0.023).Longitudinal investigations demonstrated that higher concentrations of IF1 at the 1-year visit predicted a faster decline in PA levels over the subsequent 2 years(time×IF1:B=0.148;SE=0.066;p=0.025).Conclusion:This study demonstrates that regular PA is associated with plasma IF1 concentrations,and it suggests that apoA-I partly med

关键词： Aging Apolipoprotein Bioenergetics Exerkine Mitochondria

Forecasting the development of boreal paludified forests in response to climate change: a case study using Ontario ecosite classification

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Forest Ecosystems 2015年第1期2卷 45-55页

作者： Benoit Lafleur nicole j Fenton Yves bergeron Institut de recherche sur les forêts Université du Québec en Abitibi-Témiscamingue 445 boul. de l’Université Rouyn-Noranda QC J9X 5E4 Canada Centre d’étude de la forêt Université du Québec à Montréal 141 Avenue du Président-Kennedy Montréal QC H2X 1Y4 Canada

Background：Successional paludification,a dynamic process that leads to the formation of peatlands,is influenced by climatic factors and site features such as surficial deposits and soil *** boreal regions,projected climate change and corresponding modifications in natural fire regimes are expected to influence the paludification process and forest *** objective of this study was to forecast the development of boreal paludified forests in northeastern North America in relation to climate change and modifications in the natural fire regime for the period 2011–***：A paludification index was built using static（*** deposits and soil texture）and dynamic（*** regime and soil organic layer thickness）stand scale factors available from forest *** index considered the effects of three temperature increase scenarios（i.e.＋1°C,＋3°C and＋6°C）and progressively decreasing fire cycle（from 300 years for 2011–2041,to 200 years for 2071–2100）on peat accumulation rate and soil organic layer（SOL）thickness at the stand level,and paludification at the landscape ***：Our index show that in the context where in the absence of fire the landscape continues to paludify,the negative effect of climate change on peat accumulation resulted in little modification to SOL thickness at the stand level,and no change in the paludification level of the study area between 2011 and ***,including decreasing fire cycle to the index resulted in declines in paludified ***,the index predicts a slight to moderate decrease in the area covered by paludified forests in 2100,with slower rates of ***：Slower paludification rates imply greater forest productivity and a greater potential for forest harvest,but also a gradual loss of open paludified stands,which could impact the carbon balance in paludified ***,as the thick Sphagnum layer typical of paludified forests may protect soil organic layer from dr

关键词： Boreal forest Canada Carbon sequestration Paludification Peat forests Forest harvest

High-Harmonic Generation and Correlated Electron Emission from Relativistic Plasma Mirrors at 1 kHz Repetition Rate

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Ultrafast Science 2022年第3期2卷 19-27页

作者： Stefan Haessler Marie Ouillé jaismeen kaur Maïmouna Bocoum Frederik Böhle Dan Levy Louis Daniault Aline Vernier jérôme Faure Rodrigo Lopez-Martens Laboratoire d’Optique Appliquée ENSTA ParisCNRSEcole PolytechniqueInstitut Polytechnique de Paris181 Chemin de la Hunière et des Joncherettes91120 PalaiseauFrance Ardop engineering Citéde la Photonique11 Avenue de la CanteranneBât.Pléione33600 PessacFrance Department of Physics of Complex Systems Weizmann Institute of ScienceRehovot 7610001Israel

We report evidence for the first generation of XUV spectra from relativistic surface high-harmonic generation(SHHG)on plasma mirrors at a kilohertz repetition rate,emitted simultaneously with energetic *** spectra and electron angular distributions are measured as a function of the experimentally controlled plasma density gradient scale length Lg for three increasingly short and intense driving pulses:24 fs and a0=1:1,8 fs and a0=1:6,and finally 4 fs and a0≈2:1,where a0 is the peak vector potential normalized by mec/e with the elementary charge e,the electron rest mass me,and the vacuum light velocity *** all driver pulses,we observe correlated relativistic SHHG and electron emission in the range Lg∈½λ/20,λ/4,with an optimum gradient scale length of Lg≈λ/*** universal optimal Lg-range is rationalized by deriving a direct intensity-independent link between the scale length Lg and an effective similarity parameter for relativistic laser-plasma interactions.

关键词： Attosecond science and technology Attosecond light source High-harmonic generation

Extraordinarily stable and wide-temperature range sodium/potassium-ion batteries based on 1D SnSe2-SePAN composite nanofibers

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InfoMat 2023年第9期5卷 38-50页

作者： Yiyi Wang Fuyu Xiao Xi Chen Peixun Xiong Chuyuan Lin Hong-en Wang Mingdeng Wei Qingrong Qian Qinghua Chen Lingxing Zeng engineering Research Center of Polymer Green Recycling of Ministry of Education College of Carbon Neutral Modern IndustryFujian Normal UniversityFuzhouthe People's Republic of China Universitéde Picardie jules Verne Laboratoire de Réactivitéet Chimie des Solides(LRCS)AmiensFrance Inorganic Chemistry I Technische Universität DresdenDresdenGermany College of Physics and Electronics Information Yunnan Key Laboratory of Optoelectronic Information TechnologyYunnan Normal UniversityKunmingthe People's Republic of China Fujian Provincial Key Laboratory of Electrochemical energy Storage Materials Fuzhou UniversityFuzhouthe People's Republic of China Key Laboratory of Advanced energy Materials Chemistry(Ministry of Education) College of ChemistryNankai UniversityTianjinthe People's Republic of China

Developing electrodes with long lifespan and wide-temperature adaptability is crucial important to achieve high-performance sodium/potassium-ion batteries(SIBs/PIBs).Herein,the SnSe2-SePAN composite was fabricated for extraordinarily stable and wide-temperature range SIBs/PIBs through a coupling strategy between controllable electrospinning and selenylation,in which SnSe2 nanoparticles were uniformly encapsulated in the SePAN *** unique structure of SnSe2-SePAN not only relieves drastic volume variation but also guarantees the structural integrity of the composite,endowing SnSe2-SePAN with excellent sodium/potassium storage ***,SnSe2-SePAN displays a high sodium storage capacity and excellent feasibility in a wide working temperature range(-15 to 60℃:300 mAh g^(-1)/700 cycles/-15℃;352 mAh g^(-1)/100 cycles/60℃at 0.5 A g^(-1)).At room temperature,it delivers a record-ultralong cycling life of 192 mAh g^(-1)that exceeds 66000 cycles even at 15 A g^(-1).It exhibits extremely superb electrochemical performance in PIBs(157 mAh g^(-1)exceeding 15000 cycles at 5 A g^(-1)).The ex situ XRD and TEM results attest the conversion-alloy mechanism of ***,computational calculations verify that SePAN takes an important role in intensifying the electrochemical performance of SnSe2-SePAN ***,this study breaks new ground on solving the polyselenide dissolution issue and improving the wide temperature workable performance of sodium/potassium storage.

关键词： anode energy storage SnSe2-SePAN composite sodium/potassium-ion batteries widetemperature range

Ecosystem management in paludified boreal forests:enhancing wood production,biodiversity,and carbon sequestration at the landscape level

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Forest Ecosystems 2018年第4期5卷 376-389页

作者： Benoit Lafleur nicole j.Fenton Martin Simard Alain Leduc David Paré Osvaldo Valeria Yves bergeron NSERC-UQAT-UQAM Industrial Chair in Sustainable Forest Management and Institut de recherche sur les forêts Université du Québec en Abitibi-Témiscamingue445boul.de I'UniversiteRouyn-NorandaQC J9X 5E4Canada Department of Geography Laval UniversityQuebecQC GIV 0A6Canada Centre d'etude de la foret Universite du Quebec a Montreal141 Avenue du President-KennedyMontrealQC H2X IY4Canada Ressources Naturelles Canada Service canadien des forets Centre de foresterie des Laurentides1055du P.E P S.P.O.13ox 3800QuebecQC GIV 4C7Canada

Canada’s boreal forest represents an important contributor of the world’s wood supply industry. However,maintaining or increasing productivity of the boreal forest may be challenging in areas dominated by forested peatlands. Moreover, sustainable management of these forests must also consider other important aspects of the forest ecosystem such as biodiversity and carbon sequestration. To address these concerns, ecosystem-based management has been implemented in some Canadian jurisdictions, such as in regions where a large portion of the boreal forest is dominated by forested peatlands. The objectives of this paper are(1) to summarize our current understanding of how natural disturbances influence stand dynamics and biodiversity in forested peatlands, and(2) to review the main differences between natural and managed forest stands with respect to soil properties, stand productivity, understory plant communities. We also discuss how even-age management regime succeeds or fails to preserve old forests and how this loss affects both forest structure and habitat diversity at the landscape *** conclude by showing how, in boreal forested peatlands, forest management could contribute to carbon sequestration and mitigate projected climate change.

关键词： Clearcutting Fire Forest dynamics Partial cutting Soil properties Stand productivity Understory plant

Influence of Heavy Fuel Oil on the Thermo-Physical and Erodibility Properties of Earthen Materials

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journal of Minerals and Materials Characterization and engineering 2024年第1期12卷 37-48页

作者： Ohindemi G. Yameogo Donzala D. Some Souleymane Ouedraogo Philbert Nshimiyimana Sié Kam Dieudonné j. Bathiebo Laboratoire d’energies Thermiques Renouvelables (L.E.T.RE) Unité de Formation et de Recherche en Sciences Exactes et Appliquées (UFR-SEA) University Joseph Ki-Zerbo of Ouagadougou Ouagadougou Burkina Faso Ministry in Charge of Infrastructures Ouagadougou Burkina Faso Department of Civil engineering and Architectural Design Graduate School of Science and Engineering Saga University Saga Japan Laboratoire Eco-Matériaux et Habitats Durables (LEMHaD) Institut International d’Ingénierie de l’Eau et de L’Environnement (Institut 2iE) Ouagadougou Burkina Faso

This study focuses on the use of heavy fuel oil in construction material in Burkina Faso. Its mixture with silty or clayey soil is used as a coating to reinforce the walls of raw earth constructions which are very sensitive to water. The interest of this study is to determine erodibility, water content, while highlighting the influence of the porosity accessible by water on thermal diffusion in construction material containing heavy fuel oil. The heavy fuel oil was mixed with a silty-clayey soil, in different proportions, and water to make bricks samples on which tests were carried out. At the end of the experimental tests, it appears that the water content increases gradually, but not significantly with the addition of heavy fuel oil, which causes a slight increase in the speed of heat propagation through the material with reduced porosity, particularly those containing higher quantities of heavy fuel oil. Conversely, we note a good performance of heavy fuel oil in terms of water resistance properties such as porosity accessible by water and erodibility. This allows us to conclude that the mixture of heavy fuel oil and silty-clayey soil used as a coating material could greatly reduce water infiltration into the walls of housing constructions with raw earthen materials.

关键词： Porosity Accessible by Water Erodibility Water Content Thermal Diffusion

Performance and calibration of quark/gluon-jet taggers using 140 fb^(-1) of pp collisions at √s=13 TeV with the ATLAS detector

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Chinese Physics C 2024年第2期48卷 1-25页

作者： G. Aad B. Abbott K. Abeling N.j. Abicht S.H. Abidi A. Aboulhorma H. Abramowicz H. Abreu Y. Abulaiti B.S. Acharya C. Adam Bourdarios L. Adamczyk S.V. Addepalli M.j. Addison j. Adelman A. Adiguzel T. Adye A.A. Affolder Y. Afik M.N. Agaras j. Agarwala A. Aggarwal C. Agheorghiesei A. Ahmad F. Ahmadov W.S. Ahmed S. Ahuja X. Ai G. Aielli A. Aikot M. Ait Tamlihat B. Aitbenchikh I. Aizenberg M. Akbiyik T.P.A. Åkesson A.V. Akimov D. Akiyama N.N. Akolkar K. Al Khoury G.L. Alberghi j. Albert P. Albicocco G.L. Albouy S. Alderweireldt M. Aleksa I.N. Aleksandrov C. Alexa T. Alexopoulos F. Alfonsi M. Algren M. Alhroob B. Ali H.M.j. Ali S. Ali S.W. Alibocus M. Aliev G. Alimonti W. Alkakhi C. Allaire B.M.M. Allbrooke j.F. Allen C.A. Allendes Flores P.P. Allport A. Aloisio F. Alonso C. Alpigiani M. Alvarez Estevez A. Alvarez Fernandez M. Alves Cardoso M.G. Alviggi M. Aly Y. Amaral Coutinho A. Ambler C. Amelung M. Amerl C.G. Ames D. Amidei S.P. Amor Dos Santos K.R. Amos V. Ananiev C. Anastopoulos T. Andeen j.K. Anders S.Y. Andrean A. Andreazza S. Angelidakis A. Angerami A.V. Anisenkov A. Annovi C. Antel M.T. Anthony E. Antipov M. Antonelli F. Anulli M. Aoki T. Aoki j.A. Aparisi Pozo M.A. Aparo L. Aperio Bella C. Appelt A. Apyan N. Aranzabal S.j. Arbiol Val C. Arcangeletti A.T.H. Arce E. Arena j-F. Arguin S. Argyropoulos j.-H. Arling O. Arnaez H. Arnold G. Artoni H. Asada K. Asai S. Asai N.A. Asbah j. Assahsah K. Assamagan R. Astalos S. Atashi R.j. Atkin M. Atkinson H. Atmani P.A. Atmasiddha K. Augsten S. Auricchio A.D. Auriol V.A. Austrup G. Avolio K. Axiotis G. Azuelos D. Babal H. Bachacou K. Bachas A. Bachiu F. Backman A. Badea P. Bagnaia M. Bahmani A.j. Bailey V.R. Bailey j.T. Baines L. Baines O.K. Baker E. Bakos D. Bakshi Gupta V. Balakrishnan R. Balasubramanian E.M. Baldin P. Balek E. Ballabene F. Balli L.M. Baltes W.K. Balunas j. Balz E. Banas M. Bandieramonte A. Bandyopadhyay S. Bansal L. Barak M. Barakat E.L. Barberio D. Barberis M. Barbero M.Z. Barel K.N. Barends T. Barillari M-S. Barisits T. Barklow P. Baron D.A. Baron Mo The ATLAS Collaboration

The identification of jets originating from quarks and gluons,often referred to as quark/gluon tagging,plays an important role in various analyses performed at the Large Hadron Collider,as Standard Model measurements and searches for new particles decaying to quarks often rely on suppressing a large gluon-induced *** paper describes the measurement of the efficiencies of quark/gluon taggers developed within the ATLAS Collaboration,using √s=13 TeV proton–proton collision data with an integrated luminosity of 140 fb^(-1) collected by the ATLAS *** taggers with high performances in rejecting jets from gluon over jets from quarks are studied:one tagger is based on requirements on the number of inner-detector tracks associated with the jet,and the other combines several jet substructure observables using a boosted decision tree.A method is established to determine the quark/gluon fraction in data,by using quark/gluon-enriched subsamples defined by the jet *** in tagging efficiency between data and simulation are provided for jets with transverse momentum between 500 GeV and 2 TeV and for multiple tagger working points.

关键词： ATLAS jet QUARK GLUON TAGGING