TRIO

作品数：113被引量：69H指数：4
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相关作者：马俊青孟炯孟丽张生芳毛俊峰更多>>
相关机构：南京医科大学郑州大学第一附属医院大连医科大学大连交通大学更多>>
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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5%of 320 families with steroid-resistant nephrotic syndrome
《Genes & Diseases》2025年第2期25-28,共4页Ronen Schneider Shirlee Shril Florian Buerger Konstantin Deutsch Kirollos Yousef Camille N.Frank Ana C.Onuchic-Whitford Thomas M.Kitzler Youying Mao Verena Klambt Muhammad Y.Zahoor Katharina Lemberg Amar J.Majmundar Bshara Mansour Ken Saida Steve Seltzsam Caroline M.Kolvenbach Lea Maria Merz Nils D.Mertens Tobias Hermle Nina Mann Dalia Pantel Abdul A.Halawi Aaron Bao Luca Schierbaum Sophia Schneider Daanya Salmanullah Iddo Z.Ben Dov Itamar Sagiv Loai A.Eid Hazem Subhi H.Awad Muna Al Saffar Neveen A.Soliman Marwa M.Nabhan Jameela A.Kari Sherif El Desoky Mohamed A.Shalaby Said Ooda Hanan M.Fathy Shrikant Mane Richard P.Lifton Michael J.G.Somers Friedhelm Hildebrandt 
supported by grants from the National Institutes of Health (NIH) (No.5R01DK076683-13,RC2-DK122397 to F.H.);Sequencing and data processing were performed by the Yale Centers for Mendelian Genomics funded by the National Human Genome Research Institute (No.U54 HG006504);supported by the Office of Faculty Development.K.Y.,C.N.F.,and N.D.M.are supported by an NIH Training Grant (No.5T32DK007726);by the 2017 Post-doctoral Fellowship Grant from the Harvard Stem Cell Institute.A.C.O.acknowledges support from the National Institutes of Health F32 Ruth L.Kirschstein Postdoctoral Individual National Research Service Award (No.DK122766);supported by a Post-Doctoral Fellowship award from the KRESCENT Program,a national kidney research training partnership of the Kidney Foundation of Canada,the Canadian Society of Nephrology,and the Canadian Institutes of Health Research.V.K.is funded by the Deutsche Forschungsgemeinschaft grant (No.403877094);supported by a Fulbright Scholar fellowship (USEFP).K.L.is funded by the Deutsche Forschungsgemeinschaft Research Foundation (No.DFG461126211);supported by the NIH (No.5K12HD052896-13,1K08DK125768-01A1);American Society of Nephrology Norman Siegel Research Scholar Grant,and Manton Center for Orphan Disease Research;supported by the Deutsche Forschungsgemeinschaft (German Research Foundation,No.442070894);supported by a grant from the Deutsche Forschungsgemeinschaft (German Research Foundation,No.KO 6579/2-1);supported by funding from the National Institutes of Health (No.K08-DK127011);supported by the Jiang-Li Family Foundation.
Steroid-resistant nephrotic syndrome(SRNS)is a leading cause of pediatric end-stage renal disease.Monogenic causes have been detected in 11%-45%of pediatric SRNS using exome sequencing,1-3 leaving a large proportion o...
关键词：PEDIATRIC nephrotic RESISTANT 
It's not Overcapacity,but a Matter of Global Imbalances
《China & World Economy》2025年第2期138-170,共33页Kai Guo He Zhu Fei Yu Jiajia Zhang 
Against the backdrop of geopolitical conflicts and major power competition,the US and several Western nations have claimed that China has significant"overcapacity"in manufacturing and have imposed various tariff and n...
关键词：global imbalances industrial policy new trio OVERCAPACITY manufacturing investment 
CMA和Trio-WES在胎儿肾脏发育异常产前诊断中的应用
《山东医学高等专科学校学报》2025年第1期1-4,共4页郑丽 李永丽 李华锋 
临沂市重点研发计划(No.2023YX0146)。
目的探讨产前肾脏发育异常的遗传学病因。方法选取215例产前超声提示胎儿有肾脏发育异常的孕妇为研究对象,所有样本均行CMA检测,其中36例CMA检出阴性进一步行Trio-WES。结果CMA共检出染色体拷贝数异常17例(7.91%),经分析明确致病性变异...
关键词：染色体微阵列分析 家系全外显子测序 肾脏 
Dentate Gyrus Morphogenesis is Regulated by an Autism Risk Gene Trio Function in Granule Cells
《Neuroscience Bulletin》2025年第1期1-15,共15页Mengwen Sun Weizhen Xue Hu Meng Xiaoxuan Sun Tianlan Lu Weihua Yue Lifang Wang Dai Zhang Jun Li 
supported by grants from the Key Realm R&D Program of Guangdong Province(2019B030335001);the National Natural Science Foundation of China(82071541,81971283,82271576,and 82101570);the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2023-PT320-08).
Autism Spectrum Disorders(ASDs)are reported as a group of neurodevelopmental disorders.The structural changes of brain regions including the hippocampus were widely reported in autistic patients and mouse models with ...
关键词：TRIO Autism spectrum disorders Dentate gyrus morphogenesis Neuron migration Spatial transcriptomic sequencing 
TRIO基因相关儿童智力发育障碍的临床特点和基因分析
《中华儿科杂志》2024年第11期1071-1075,共5页田小娟 王晓慧 任晓暾 贾天明 张广宇 
中国抗癫痫协会癫痫科研基金(CU-2022-018)。
目的总结TRIO基因相关儿童智力发育障碍(MRD)的临床表现和基因特点。方法病例系列研究,回顾性收集首都医科大学附属北京儿童医院神经内科及郑州大学第三附属医院儿科2019年8月至2024年3月就诊的9例TRIO基因相关MRD患儿病例资料,包括性...
关键词：发育障碍 小头畸形 大头畸形 面容畸形 基因 TRIO 
量子计算与音乐创作的交汇:《旋转——Q1合成器三重奏》(Spinnings—Q1 Synth Trio)
《黄钟（武汉音乐学院学报）》2024年第3期24-31,167,共9页郑中 杨维佳 
量子算法作曲伴随AI音乐时代的到来,俨然成为计算机音乐领域的热点话题。巴西室内乐和电子音乐作曲家爱德华多·雷克·米兰达(Eduardo Reck Miranda),在英国普利茅斯大学计算机音乐研究跨学科中心(ICCMR)主持与牛津大学合作的项目时,创...
关键词：量子算法作曲 量子计算 人工智能 
TRIO基因变异致常染色体显性遗传性智力发育障碍临床特点及遗传学分析
《中华神经科杂志》2024年第9期984-992,共9页梅道启 汤继宏 王媛 王莉 马昂 郭建梅 陈晓轶 
河南省科技厅科技攻关计划(232102310077);河南省医学科技攻关计划联合共建项目(LHGJ20200618,2018020633,LHGJ20200632);河南省医学教育项目(WJLX2022144,WJLX2020136);河南省儿童神经发育工程研究中心开放课题(SG201907,SG202203);苏州市科技计划项目(SKY2022007)。
目的:总结TRIO基因变异致2例常染色体显性遗传性智力发育障碍(MRD)患儿的临床表型和基因型特点。方法:回顾性研究郑州大学附属儿童医院神经内科2019年4月、2023年1月确诊的2例TRIO基因变异致常染色体显性MRD患儿的临床资料,总结其临床...
关键词：儿童 癫痫 错义变异 TRIO基因 常染色体显性遗传性智力发育障碍 
NODULATION TRIO in Medicago truncatula:Unveiling the redundant roles of MtLYK2,MtLYK3,and MtLYK2bis
《Journal of Integrative Plant Biology》2024年第8期1553-1556,共4页Yaohua Li Yanwen Zhao Ziang Yan Ru Dong Haixiang Yu Hui Zhu Yangrong Cao 
supported by the National Key R&D Program of China(2019YFA0904700);the National Natural Science Foundation of China(32090063);a Self-Innovation grant from the National Laboratory(AML2023B01)。
The legume–rhizobial symbiosis is a distinctive model in plant–microbe interactions.Despite being foreign invaders,rhizobia are acknowledged as“friends”by compatible host plants,leading to mutualistic endosymbiosi...
关键词：mutual SPITE REDUNDANT 
Incidental and secondary findings in trio exome sequencing
《Genes & Diseases》2024年第4期152-154,共3页Camille Cohen Emeline Bellanger Jeremie Mortreux Laure Raymond Francois Vialard Rodolphe Dard 
Exome sequencing(ES)generates secondary findings(SFs)in 2%of tested individuals if one follows the American College of Medical Genetics and Genomics(ACMG)guide-lines.i,z2 However,the rate of incidental and secondary f...
关键词：ROUTINE CLINICAL finding 
七叶皂苷对结直肠癌细胞增殖、侵袭的作用及机制研究
《世界中医药》2024年第13期1954-1958,1965,共6页习隽丽 周超 李子银 石磊 
国家自然科学基金面上项目(81871816);湖北省卫生健康委员会面上项目(WJ2021M157);湖北省自然科学基金项目(2020CFB661);武汉市卫生健康委员会面上项目(WX20B14);武汉大学医学部教学研究项目(2020028)。
目的:探究七叶皂苷对氧化三甲胺(TMAO)诱导的结直肠癌细胞株增殖及迁移侵袭的影响,并探讨其作用机制。方法:取结直肠癌HCT116细胞系,分为对照组、TMAO组、观察组3组,并分别进行处理。对照组不做处理,TMAO组仅使用100μmol/L TMAO诱导,...
关键词：七叶皂苷 结直肠癌 增殖 迁移 侵袭 SRC BTK TRIO 
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