云南高校图书馆联盟文献共享服务平台- VARIANTS

VARIANTS: 作品数：613被引量：1047H指数：14; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：张启发谈移芳吴松顾先明谢金燕更多>>; 相关机构：华南农业大学电子科技大学哈尔滨医科大学复旦大学更多>>; 相关期刊：更多>>; 相关基金：国家自然科学基金国家重点基础研究发展计划中国博士后科学基金北京市自然科学基金更多>>

Reanalysis of whole genome sequencing ends a diagnostic odyssey of neurodevelopmental disorders caused by RNU4-2 variants: 《Science China(Life Sciences)》2025年第4期1194-1196,共3页Shiqi Fan Shuanghao Yang Miao Sun Weiyue Gu Xue Zhang; supported by the National Key Research and Development Program of China(2022YFC2703900);the CAMS Innovation Fund for Medical Sciences(2021-I2M-1018);the National Natural Science Foundation of China(82394420 and 82394423);the Theranostics and Translational Research Facility of National Infrastructures for Translational Medicine,Institute of Clinical Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College for the support。; Dear Editor,Neurodevelopmental disorders(NDD)are a group of diseases with high phenotypic heterogeneity characterized by inability in cognition,communication,psychological skills,and motor development.The common types...; 关键词：diagnostic odyssey autism spectrum disorder asd attention deficit hyperactivity REANALYSIS rnu variants whole genome sequencing neurodevelopmental disorders

Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis: 《Science China(Life Sciences)》2025年第3期880-883,共4页Wenqian Li Guoxiong Han Xiaorui Wang Kuo Shen Youbang Xie; supported by the Translational Research Grant of NCRCH (2021WWB04);the Clinical Research Center for Blood System Diseases of Qinghai Province (2021-SF-136);the 2022 “Kunlun Yingcai” Advanced Innovation and Entrepreneurship Top-notch Talents Project in Qinghai Province;the National Natural Science Foundation of China(81960027).; Dear Editor,Polycythemia,defined by an elevated red blood cell(RBC)count and increased hemoglobin(Hb)levels,is not typically associated with leukocytosis or thrombocytosis(Lund and Anholm,1957).Familial erythrocytosis...; 关键词：elevated typically

COVID-19 vaccine updates for people under different conditions: 《Science China(Life Sciences)》2024年第11期2323-2343,共21页Yijiao Huang Weiyang Wang Yan Liu Zai Wang Bin Cao; supported by the National Natural Science Foundation of China(82241056,82170015,82100009,82030002);Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences(2021-I2M-1-048);New Cornerstone Science Foundation,National Key R&D Program of China(2023YFC2306300);National Key R&D Program of China(2023YFC2306300).; SARS-CoV-2 has caused global waves of infection since December 2019 and continues to persist today.The emergence of SARS-CoV-2 variants with strong immune evasion capabilities has compromised the effectiveness of exis...; 关键词：SARS-CoV-2 VACCINE variants of concern ELDERLY IMMUNOCOMPROMISED

Whole-genome sequencing identifies novel genes for autism in Chinese trios: 《Science China(Life Sciences)》2024年第11期2368-2381,共14页Suhua Chang Jia Jia Liu Yilu Zhao Tao Pang Xiangyu Zheng Zhirui Song Anyi Zhang Xuping Gao Lingxue Luo Yanqing Guo Jing Liu Li Yang Lin Lu; supported by the National Program for Brain Science and Brain-like Intelligence Technology of China (2021ZD0200800);Beijing Municipal Science and Technology Commission (Z181100001518005);the National Natural Science Foundation of China (31401139, 32170613, 81671358, 81873803);the Natural Science Foundation of Beijing Municipality (7232225); Autism spectrum disorder(ASD)is a neurodevelopmental disorder with high genetic heritability but heterogeneity.Fully understanding its genetics requires whole-genome sequencing(WGS),but the ASD studies utilizing WGS d...; 关键词：AUTISM whole-genome sequencing de novo variants inherited variants SNV structural variants

Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway: 《Science China(Life Sciences)》2024年第9期1915-1927,共13页Ling Li Lei Lu Ziqi Xiao Jingyi Lv Hefeng Huang Bo Wu Tongjin Zhao Chengtao Li Weimin Wang Hongyan Wang; supported by the National Key Research and Development Program of China(2021YFC2701101);the National Natural Science Foundation of China(82150008,81930036);Commission for Science and Technology of Shanghai Municipality(20JC1418500);Open Fund Project of Guangdong Academy of Medical Sciences(YKY-KF202202)。; The BMP signaling pathway plays a crucial role in regulating early embryonic development and tissue homeostasis.SMAD6 encodes a negative regulator of BMP,and rare variants of SMAD6 are recurrently found in individuals...; 关键词：SMAD6 DEAMIDATION BMP signaling pathway GFPT2

Engineering disease-resistant plants with alternative translation efficiency by switching uORF types through CRISPR被引量：1: 《Science China(Life Sciences)》2024年第8期1715-1726,共12页Jingjing Tian Zhijuan Tang Ruixia Niu Yulu Zhou Dan Yang Dan Chen Ming Luo Rui Mou Meng Yuan Guoyong Xu; supported by the National Key Research and Development Program of China(2023ZD04073);the Major Project of Hubei Hongshan Laboratory(2022hszd016);the National Natural Science Foundation of China(32070284,32172421);the Key Research and Development Program of Hubei Province(2022BFE003);the Fundamental Research Funds for the Central Universities(2662023PY006).; Engineering disease-resistant plants can be a powerful solution to the issue of food security.However,it requires addressing two fundamental questions:what genes to express and how to control their expressions.To find...; 关键词：disease-resistant plants broad-spectrum disease resistance UORF uORF types uORF variants CRISPR

Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice被引量：1: 《Science China(Life Sciences)》2024年第7期1325-1337,共13页Chengcheng Song Yingying Qin Yan Li Bingyi Yang Ting Guo Wenqing Ma Dian Xu Keyan Xu Fangfang Fu Li Jin Yanhua Wu Shuyan Tang Xiaojun Chen Feng Zhang; supported by the National Natural Science Foundation of China(32288101);the National Key Research and Development Program of China(2021YFC2701400);Shenkang Clinical Technology Innovation Project(SHDC22021219)。; Premature ovarian insufficiency(POI)is a heterogeneous female disorder characterized by the loss of ovarian function before the age of 40.It represents a significant detriment to female fertility.However,the known POI...; 关键词：POI RNF111 female fertility ovarian reserve

Highly efficient base editing in rabbit by using near-PAMless engineered CRISPR/Cas9 variants被引量：5: 《Science China(Life Sciences)》2023年第3期635-638,共4页Zhongtian Zhang Xinyu Wu Jie Yang Xin Liu Ruonan Liu Yuning Song; supported by the National Key Research and Development Program of China Stem Cell and Translational Research(2019YFA0110700);the National Natural Science Foundation of China(32000359)。; Dear Editor,Base editors can achieve targeted C-to-T and A-to-G conversion without the generation of DNA double-strand breaks(DSBs)or the requirement of a donor template,showing the potential to generate new mutations...; 关键词：BASE RABBIT BASES

SARS-CoV-2 variants,immune escape,COVID-19 vaccine,and therapeutic strategies被引量：3: 《Science China(Life Sciences)》2023年第2期406-410,共5页Haiying Que Li Chen Xiawei Wei; supported by the National Science Foundation for Excellent Young Scholars(32122052);the National Natural Science Foundation Regional Innovation and Development(U19A2003)。; The global pandemic of coronavirus disease 2019(COVID-19) caused by severe acute respiratory syndrome coronavirus2(SARS-CoV-2) has brought considerable challenges to worldwide public health and the economy. Over 535 m...; 关键词：ACUTE RESPIRATORY VACCINE

A third high dose of inactivated COVID-19 vaccine induces higher neutralizing antibodies in humans against the Delta and Omicron variants:a Randomized,Double-Blinded Clinical Trial被引量：3: 《Science China(Life Sciences)》2022年第8期1677-1679,共3页Yu Cao Xiaoli Wang Siqi Li Yuan Dong Yonghong Liu Jing Li Yanqing Zhao Yingmei Feng; supported by grants from the Beijing Science Foundation of China(Z201100005520062 and Z201100007920017)。; Dear Editor,The current pandemic of coronavirus disease 2019(COVID-19),caused by infection with severe acute respiratory syndrome coronavirus-2(SARS-Co V-2),has been ongoing for over 2 years.Like other viruses,SARS-Co...; 关键词：acute respiratory ANTIBODIES

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