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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>>

Variants within KIF5B are associated with weight loss through mitochondrial transport alteration in sheep: 《Journal of Genetics and Genomics》2024年第12期1513-1516,共4页Jieran Chen Haitao Wang Tingting Li Yuting Zhang Yan Chen Na Zhang Hengqian Yang Zhichao Zhang Ziyuan Duan Xia Li Daxiang Wang Zhixiong He Fan Hu Jianfeng Gao Runlin Z.Ma Xun Huang Qiuyue Liu; supported by the Strategic Priority Research Program of Chinese Academy of Sciences(XDA24030205 and XDA26040303);Biological Breeding-National Science and Technology Major Project(2023ZD0407106 and 2023ZD0406805)。; Sheep(Ovis aries)is a key source of meat for humans,and their weight loss significantly impacts meat production.Although a few causative genes related to weight loss have been identified,the inheritance mechanisms and...; 关键词：CHAINS WEIGHT SHEEP

Pathogenic TDRD12 variants cause defective piRNA pathway and male infertility in humans and mice: 《Journal of Genetics and Genomics》2024年第11期1322-1326,共5页Ziyou Bao Yan Wang Renxue Wang Fan Dong Tongtong Li Wai-Yee Chan Zi-Jiang Chen Gang Lu Hongbin Liu Xiangfeng Chen; supported by the National Key R&D Program of China(2023YFC2705503);Major Innovation Projects in Shandong Province(2021ZDSYS16);the National Natural Science Foundation of China(82071699 and 82371619);CAMS Innovation Fund for Medical Sciences(2021-I2M-5-001);the Basic Science Center Program of NSFC(31988101);Science Foundation for Distinguished Young Scholars of Shandong(ZR2021JQ27);Taishan Scholars Program for Young Experts of Shandong Province(tsqn202103192)。; Non-obstructive azoospermia(NOA),the lack of sperm in the ejaculate due to failure of spermatogenesis,can result from a variety of diverse factors,with genetic factors accounting for~30%of NOA cases,including chromoso...; 关键词：VARIANTS TDR

Both gain-and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia被引量：1: 《Journal of Genetics and Genomics》2024年第8期801-810,共10页Wan-Bing Sun Jing-Xin Fu Yu-Lan Chen Hong-Fu Li Zhi-Ying Wu Dian-Fu Chen; supported by grants from the National Natural Science Foundation of China(82101526,82171238,and 81330025)。; KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channelαsubunit.Three variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic dyskinesia(PKD),but the correlation between them remains unc...; 关键词：Paroxysmal kinesigenic dyskinesia KCNA1 LOSS-OF-FUNCTION GAIN-OF-FUNCTION CHANNELOPATHY Episodicataxiatype1

Chinese patients with adult onset leukodystrophy caused by CST3 variants: 《Journal of Genetics and Genomics》2024年第7期778-780,共3页Yi Zhang Zhi-Ying Wu; supported by the grant(82230062)from the National Natural Science Foundation of China to Zhi-Ying Wu.; Leukodystrophies represent a group of cerebral white matter disorders that mainly affect axon-glia units.The disorders are clinically diverse and display significant genetic variability.It is challenging to differenti...; 关键词：al. PATIENTS Kohler

Exploring noncoding variants in genetic diseases:from detection to functional insights被引量：1: 《Journal of Genetics and Genomics》2024年第2期111-132,共22页Ke Wu Fengxiao Bu Yang Wu Gen Zhang Xin Wang Shunmin He Mo-Fang Liu Runsheng Chen Huijun Yuan; supported by the National Key Research and Development Program of China(82030030);the 1·3·5 Project for Disciplines of Excellence,West China Hospital;Sichuan University(ZYJC20002)to H.Yuan;Sichuan Science and Technology Program(2022YFS0211)to K.Wu.; Previous studies on genetic diseases predominantly focused on protein-coding variations, overlooking the vast noncoding regions in the human genome. The development of high-throughput sequencing technologies and funct...; 关键词：Noncoding variation Genetic disease Research approach CHALLENGE

Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts: 《Journal of Genetics and Genomics》2024年第2期222-229,共8页Wenbin Huang Shiying Zhang Jiuxiang Lin Yi Ding Nan Jiang Jieni Zhang Huaxiang Zhao Feng Chen; supported by the National Natural Science Foundation of China(No.81870747,82170916,81900984,and 82001030);the Fundamental Research Funds for the Central Universities(PKU2022XGK001);Natural Science Foundation of Beijing Municipality(7182184);Xi'an“Science and Technology+”Action Plan-Medical Research Project(20YXYJ0010[1]);the Fundamental Research Funds for the Central Universities(xzy012020110).; Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formatio...; 关键词：Or ofacial clefts FLNB Loss-of-function mutati on Cleft palate Filamin B Actin flannent Knockout mouse

NCAD v1.0: a database for non-coding variant annotation and interpretation: 《Journal of Genetics and Genomics》2024年第2期230-242,共13页Xiaoshu Feng Sihan Liu Ke Li Fengxiao Bu Huijun Yuan; supported by the National Natural Science Foundation of China(82171836);the 1·3·5 project for disciplines of excellence,West China Hospital,Sichuan University(ZYJC20002).; The application of whole genome sequencing is expanding in clinical diagnostics across various genetic disorders, and the significance of non-coding variants in penetrant diseases is increasingly being demonstrated. T...; 关键词：Non-coding variants ANNOTATION Variant interpretation DATABASE

PICOTEES:a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts被引量：1: 《Journal of Genetics and Genomics》2024年第2期243-251,共9页Xinran Dong Yulan Lu Lanting Guo Chuan Li Qi Ni Bingbing Wu Huijun Wang Lin Yang Songyang Wu Qi Sun Hao Zheng Wenhao Zhou Shuang Wang; funded by the Shanghai Hospital Development Center(SHDC2020CR6028-002 to W.Zhou);National Key R&D Program of China(2020YFC2006402 to Y.Lu);National Key R&D Program of China(2022ZD0116003 to X.Dong);the Science and Technology Commission of Shanghai(22002400700 to S.Wu);Shanghai Municipal Science and Technology Major Project(20Z11900600 to W.Zhou);National Key Research and Development Program(2018YFC0116903 to W.Zhou);Major Research Projects for Young and Middle-aged People of Fujian Province(2021ZQNZD017 to Y.Lu);supported by Key Lab Information Network Security,Ministry of Public Security(to H.Zheng and S.Wang);“Pioneer”and”Leading Goose”R&D Program of Zhejiang(No.2022C01126 to Q.Sun and S.Wang);National Key R&D Program of China(2021YFC2500802 and 2021YFC2500806 to H.Zheng and S.Wang).; The growth in biomedical data resources has raised potential privacy concerns and risks of genetic information leakage. For instance, exome sequencing aids clinical decisions by comparing data through web services, bu...; 关键词：Privacy protecti on Rare diseases in children Genetic testing Web system Trusted executi on envir onment

Multi-omics analyses of G6PD deficiency variants in Chinese population被引量：1: 《Journal of Genetics and Genomics》2024年第1期100-104,共5页He Ji Jiahuan Chen Peide Huang Zhimin Feng Weining Hu Mengyao Dai Xiaohui Sun Xiao Jin Guangquan Chen Guang Ning Lin Li Weiqing Wang Yanan Cao; supported by the National Key Research and Development Program of China(2020YFA0112800,2020YFA0112801);the National Natural Science Foundation of China(82270842,82000829);CAMS Innovation Fund for Medical Sciences(2020-12M-5-002).; Glucose-6-phosphate dehydrogenase(G6PD)deficiency is one of the most prevalent hereditary and X-linked enzyme disorders caused by the pathogenetic G6PD(NM_001042351.2)variants(Yang et al.,2016).The clinical manifestat...; 关键词：al. G6PD EPIDEMIOLOGY

Humoral and cellular immunity against diverse SARS-CoV-2 variants: 《Journal of Genetics and Genomics》2023年第12期934-947,共14页Changxu Chen Xin Wang Zeli Zhang; Since the outbreak of coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in late 2019, the virus has rapidly spread worldwide. This has led to an unprecedented ...; 关键词：SARS-CoV-2 COVID-19 Vaccines Humoral immunity Cellular immunity

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