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A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra

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Journal of Genetics and Genomics 2021年第2期48卷 167-171页

作者： Yingzhi Wu meifang Peng Jieyi Chen Jinlong Suo Sihai Zou Yanqing Xu Andrew O.m.wilkie Weiguo Zou Xiongzheng mu Sijia Wang Department of Plastic Surgery Huashan HospitalFudan UniversityShanghai 200040China State Key laboratory of Genetic Engineering at School of life Sciences Fudan UniversityShanghai 200011China CAS Key laboratory of Computational Biology CAS-MPG Partner Institute for Computational BiologyShanghai Institute of Nutrition and HealthUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China The State Key laboratory of Cell Biology CAS Center for Excellence in Molecular Cell ScienceShanghai Institute of Biochemistry and Cell BiologyChinese Academy of SciencesUniversity of Chinese Academy of SciencesShanghai 200031China Department of Oral and maxillofacial Surgery Affiliated Hospital of StomatologyChongqing Medical UniversityChongqing 401147China Chongqing Key laboratory of Oral Diseases and Biomedical Sciences Chongqing 401147China Forest Ridge School of the Sacred Heart BellevueWA 98006USA mRC Weatherall Institute of m.lecular medicine University of OxfordJohn Radcliffe HospitalOxford 0X39DSUK Center for Excellence in Anim.l Evolution and Genetics Chinese Academy of SciencesKunming 650223China

Craniosynostosis is a rare disease in which one or more of the cranial sutures in an infant skull prematurely fuses by turning into bone,with a prevalence of 1 in 2,000—2,500 individuals from reports in Western countries(wilkie et al.,2017).It may restrict the growth of the brain,leading to some degree of morphological and functional abnorm.lities,and may affect the neurocognitive function of infants(lattanzi et al.,2017).Genetic variants underlying craniosynostosis have been identified in cohort studies in Western populations.

关键词： patients turning

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THE ROlE OF THE NmDA RECEPTOR（NmDAR）IN THE HIGH ANOXIA-TOlERANCE AND AmmONIA-TOlERANCE OF THE GOlDFISH（CARASSIUS AURATUS）

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THE ROLE OF THE NMDA RECEPTOR（NMDAR）IN THE HIGH ANOXIA-TOL...

基于锥形量热分析的聚丙烯/海泡石复合材料阻燃性能研究

国际比较生理生化及毒理学大会暨第六届中国比较生理学会议

作者： m.P.wilkie m.E.Pamenter D.S.Shin G.Skelton S.Alkabie l.T Buck Department of Biology Wilfrid Laurier UniversityWaterlooOntarioN2L 3C5Canada.Department of Cell and Systems BiologyUniversity of TorontoTorontoOntarioMSS 3G5Canada. Department of Cell and Systems Biology University of TorontoTorontoOntarioM5S 3G5Canada. Department of Cell and Systems Biology University of TorontoTorontoOntarioM5S 3G5Canada. Department of Biology Wilfrid Laurier UniversityWaterlooOntarioN2L 3C5Canada. Department of Biology Wilfrid Laurier UniversityWaterlooOntarioN2L 3C5Canada. Department of Cell and Systems Biology University of TorontoTorontoOntarioM5S 3G5Canada.

＜正＞Recently,evidence has begun to accum.late suggesting that fish that can withstand long periods of oxygen deprivation（hypoxia/anoxia）are generally ammonia tolerant（Walsh et ***. Biochem Physiol,147A:332）.One ...

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材料导报 2012年第16期26卷 120-124页

作者：曹伟城王林江谢襄漓 Charles A.wilkie 桂林理工大学材料科学与工程学院桂林理工大学有色金属及材料加工新技术教育部重点实验室桂林理工大学化学与生物工程学院 Department of Chemistry and Fire RetardantResearch Facility Marquette UniversityPO BOX 1881MilwaukeeWI 53201USA

以天然海泡石(Sepiolite,SEP)和用十六烷基三甲基溴化铵(CTAB)改性的有机海泡石(Organic-sepio-lite,OSEP)为填料,采用熔融共混法分别制备聚丙烯/海泡石(PP/SEP)、聚丙烯/有机海泡石(PP/OSEP)复合材料。根据锥形量热仪实验数据,选择热... 详细信息

以天然海泡石(Sepiolite,SEP)和用十六烷基三甲基溴化铵(CTAB)改性的有机海泡石(Organic-sepio-lite,OSEP)为填料,采用熔融共混法分别制备聚丙烯/海泡石(PP/SEP)、聚丙烯/有机海泡石(PP/OSEP)复合材料。根据锥形量热仪实验数据,选择热释放速率(HRR)、火灾性能指数(FPI)、生烟速率(SPR)、质量损失率(mlR)和燃烧残留物形貌分析,考察海泡石和有机海泡石对聚丙烯(PP)燃烧性能的影响。结果表明:CTAB以季铵盐的形式通过吸附方式键接在海泡石表面,改性后缔合和游离两种形式的-OH基团增加;阻燃PP的FPI有所提高,HRR最大降幅为66%,SPR由纯PP的0.117m2/s下降为0.0704m2/s,mlR由0.45g/s下降到0.20g/s;当有机海泡石阻燃剂添加量达到10%时,复合材料在燃烧过程中形成炭层。

关键词：海泡石聚丙烯锥形量热仪复合材料阻燃性能

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A variant in Il6ST with a selective Il-11 signaling defect in human and mouse

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Bone Research 2020年第2期8卷 157-168页

作者： Tobias Schwerd Freia Krause Stephen R.F.Twigg Dominik Aschenbrenner Yin-Huai Chen Uwe Borgmeyer miryam m.ller Santiago manrique Neele Schumacher Steven A.Wall Jonathan Jung Timo Damm Claus-Christian Glüer Jürgen Scheller Stefan Rose-John E.Yvonne Jones Arian laurence Andrew O.m.wilkie Dirk Schmidt-Arras Holm H.Uhlig Translational Gastroenterology Unit John Radcliffe HospitalUniversity of OxfordOxfordUK Department of Pediatrics Dr von Hauner Children’s HospitalLMU MunichMunichGermany Christian-Albrechts-University Kiel Institute of BiochemistryKielGermany Clinical Genetics Group MRC Weatherall Institute of Molecular MedicineUniversity of OxfordJohn Radcliffe HospitalOxfordUK Center for m.lecular Neurobiology Hamburg(ZmNH) University Medical Center Hamburg-EppendorfHamburgGermany Division of Structural Biology Wellcome Trust Centre for Human GeneticsUniversity of OxfordOxfordUK Craniofacial Unit Department of Plastic and Reconstructive SurgeryOxford University Hospitals NHS Foundation TrustJohn Radcliffe HospitalOxfordUK Section Biomedical Imaging Department of Radiology and NeuroradiologyUniversity Medical Center Schleswig-HolsteinKielGermany Institute of Biochemistry and m.lecular Biology Ⅱ Medical FacultyHeinrich-Heine-UniversityDüsseldorfGermany Department of Paediatrics University of OxfordOxfordUK NIHR Oxford Biomedical Research Centre OxfordUK The Beatson Institute for Cancer Research GlasgowUK School of medicine University of GlasgowGlasgowUK

The GP130 cytokine receptor subunit encoded by Il6ST is the shared receptor for ten cytokines of the Il-6 fam.ly. We describe a homozygous non-synonymous variant in Il6 ST(p.R281 Q) in a patient with craniosynostosis and retained deciduous teeth. We characterize the impact of the variant on cytokine signaling in vitro using transfected cell lines as well as primary patient-derived cells and support these findings using a mouse model with the corresponding genome-edited variant Il6 st p.R279 Q. We show that human GP130 p.R281 Q is associated with selective loss of Il-11 signaling without affecting Il-6, Il-27, OSm, lIF, CT1, ClC, and CNTF signaling. In mice Il6 st p.R279 Q lowers litter size and causes facial synostosis and teeth abnorm.lities. The effect on Il-11 signaling caused by the GP130 variant shows incom.lete penetrance but phenocopies aspects of Il11 RA deficiency in humans and mice. Our data show that a genetic variant in a pleiotropic cytokine receptor can have remarkably selective defects.

关键词： Il11 cytokine facial

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编码鸟苷酸环化酶活化蛋白1的GUCA1A基因发生突变引起视锥细胞、视锥细胞-视杆细胞及黄斑营养不良

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世界核心医学期刊文摘(眼科学分册) 2006年第2期 60-61页

作者： michaelides m wilkie S.E Jenkins S. A.R. Webster 白芳 Institute of Ophthalm.logy University College London 11- 43 Bath Street London EC1V 9EL United Kingdom Dr.

Purpose: To determine the underlying m.lecular genetic basis of a retinal dystrophy identified in a 4- generation fam.ly and to examine the phenotype and the degree of intrafam.lial variability. Design: Prospective case series. Participants: Six affected individuals from a nonconsanguineous British fam.ly. methods: Detailed ophthalm.logic examination, color fundus photography, autofluorescence imaging, and electrophysiologic assessment were performed. Blood sam.les were taken for DNA extraction, and mutation screening of GUCA1A, the gene encoding guanylate cyclase-activating protein 1 (GCAP1), was undertaken. Results: All affected subjects com.lained of m.ld photophobia and reduced central and color vision. Onset was between the third and fifth decade, with subsequent gradual deterioration of visual acuity and color vision. Visual acuity ranged between 6/9 and counting fingers. Color vision was either absent or markedly reduced along all 3 color axes. A range of macular appearances was seen, varying from m.ld retinal pigment epithelial disturbance to extensive atrophy. Electrophysiologic testing revealed a range of electrophysiologic abnorm.lities: isolated cone electroretinography abnorm.lities, reduced cone and rod responses (with cone loss greater than rod), and isolated macular dysfunction. The 4 coding exons of GUCA1A were screened for mutations in affected and unaffected fam.ly members. A single transition, A319G, causing a nonconservative missense substitution, Tyr99Cys, segregated uniquely in all affected subjects. Conclusions: The Tyr99Cys GUCA1A mutation has been previously shown to cause autosom.l dominant progressive cone dystrophy. This is the first report of this mutation also causing both cone-rod dystrophy and isolated macular dysfunction. The phenotypic variation described here exem.lifies the intrafam.lial heterogeneity of retinal dysfunction that can be observed in persons harboring the same mutation and chromosom.l segment.

关键词：黄斑营养不良视锥细胞 GUCA1A 视杆细胞活化蛋白鸟苷酸环化酶编码基因

Trajectory design for a solar-sail mission to asteroid 2016 HO_(3)

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Astrodynamics 2019年第3期3卷 231-246页

作者： Jeannette Heiligers Juan m.Fernandez Olive R.Stohlman W.Keats wilkie Faculty of Aerospace Engineering Delft University of TechnologyKluyverweg 12629 HSDelftthe Netherlands Structural Dynamics Branch Langley Research CenterNational Aeronautics and Space AdministrationHamptonVirginia23681-2199USA

This paper proposes the use of solar-sail technology currently under development at NASA langley Research Center for a CubeSat rendezvous mission with asteroid 2016 HO_(3),a quasi-satellite of ***-optim.l trajectories are sought for within a 2022–202_(3) launch window,starting from an assumed launcher ejection condition in the Earth-moon *** optim.l control problem is solved through a particular im.lementation of a direct pseudo-spectral method for which initial guesses are generated through a relatively sim.le and straightforward genetic algorithm search on the optim.l launch date and sail *** results show that the trajectories take 2.16–4.21 years to com.lete,depending on the assumed solar-sail reflectance model and solar-sail *** assess the performance of solar-sail propulsion for this mission,the trajectory is also designed assuming the use of solar electric *** resulting fuel-optim.l trajectories take longer to com.lete than the solar-sail trajectories and require a propellant consumption that exceeds the expected propellant capacity onboard the *** comparison demonstrates the superior performance of solar-sail technology for this mission.

关键词： asteroid 2016 HO_(3) solar sail solar electric propulsion trajectory design trajectory optimization