LOSS-OF-FUNCTION

作品数：31被引量：89H指数：6
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相关领域：医药卫生生物学更多>>
相关作者：周中军刘宝华邹建军高益军更多>>
相关机构：香港大学复旦大学中国科学院南京医科大学更多>>
相关期刊：《Asian Journal of Pharmaceutical Sciences》《Frontiers of Medicine》《Journal of Cancer Therapy》《Virologica Sinica》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广东省自然科学基金国家科技支撑计划更多>>
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Understanding neurodevelopmental proteasomopathies as new rare disease entities:A review of current concepts,molecular biomarkers,and perspectives
《Genes & Diseases》2024年第6期168-191,共24页Silvestre Cuinat Stephane Bezieau Wallid Deb Sandra Mercier Virginie Vignard Bertrand Isidor Sebastien Kury Frederic Ebstein 
supported by the European Joint Programme on Rare Diseases (EJP RD)for the project"UPS-NDDiag"and the Agence Nationale de la Recherche (ANR)for the project ANR-21-CE17-0005.
The recent advances in high throughput sequencing technology have drastically changed the practice of medical diagnosis,allowing for rapid identification of hundreds of genes causing human diseases.This unprecedented ...
关键词：Biomarkers Loss-of-function variants Neurodevelopmental disorders PROTEASOME Rare diseases Therapeutic targets 
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 
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 
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141,DDHD2,and LHFPL5
《Frontiers of Medicine》2024年第1期81-97,共17页Liwei Sun Xueting Yang Amjad Khan Xue Yu Han Zhang Shirui Han Xiaerbati Habulieti Yang Sun Rongrong Wang Xue Zhang 
supported by the National Natural Science Foundation of China(NSFC)(Nos.82001221 and 81788101);the National Key Research and Development Program of China(Nos.2022YFC2703900 and 2022YFC2703903);the CAMS Innovation Fund for Medical Sciences(CIFMS)(Nos.2021-I2M-1-018,2022-I2M-JB-004 and 2017-I2M-B&R-05).
Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine.Panoramic variation analysis is imperative to analyze the disease phenotypes resul...
关键词：neurodevelopmental disorder autosomal recessive intellectual DISABILITY CONSANGUINITY spastic paraplegia hearing loss TMEM141 
Large-scale loss-of-function perturbations reveal a comprehensive epigenetic regulatory network in breast cancer
《Cancer Biology & Medicine》2024年第1期83-103,共21页Yumei Wang Haiyan Wang Wei Shao Yuhui Chen Yu Gui Chao Hu Xiaohong Yi Lijun Huang Shasha Li Dong Wang 
supported by grants from the National Natural Science Foundation of China(Grant No.82172723);the Natural Science Foundation of Sichuan(Grant Nos.2023NSFSC1828 and 2022NSFSC1289);the“Xinglin Scholar”Scientific Research Promotion Plan of Chengdu University of Transitional Chinese Medicine(Grant No.BSH2021003);the Innovation Team and Talents Cultivation Program of National Administration of Traditional Chinese Medicine(Grant No.ZYYCXTD-D-202209);the Research Funding of Department of Science and Technology of Qinghai Province(Grant No.2023-ZJ-729)。
Objective:Epigenetic abnormalities have a critical role in breast cancer by regulating gene expression;however,the intricate interrelationships and key roles of approximately 400 epigenetic regulators in breast cancer...
关键词：Epigenetic regulators breast cancer regulatory network HTS^(2) 
Loss-of-function of zebrafish cdt1 causes retarded body growth and underdeveloped gonads resembling human Meier-Gorlin syndrome
《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2023年第11期1037-1046,共10页Yinan HE Yong WANG Yanqing ZHU Li Jan LO 
supported by the National Natural Science Foundation of China (Nos.31830113 and 31771596).
The cell cycle consists of four distinct phases:GO/Gl,S(DNA synthesis),G2,and M(mitosis).The Gl to S transition is typified by an accumulation of 4',6-diamidino-2-phenylindole(DAPI)signal that indicates the rapid DNA ...
关键词：synthesis initiated FUNCTION 
A loss-of-function mutant allele of a glycosyl hydrolase gene has been co-opted for seed weight control during soybean domestication被引量：3
《Journal of Integrative Plant Biology》2023年第11期2469-2489,共21页Siming Wei Bin Yong Hongwei Jiang Zhenghong An Yan Wang Bingbing Li Ce Yang Weiwei Zhu Qingshan Chen Chaoying He 
supported by the grants from the Chinese Academy of Sciences (ZDRW-ZS-2019-2-0101 and XDA08010105);the National Natural Science Foundation of China (31525003,31930007)to C.Y.H。
The resultant DNA from loss-of-function mutation can be recruited in biological evolution and development.Here,we present such a rare and potential case of“to gain by loss”as a neomorphic mutation during soybean dom...
关键词：DOMESTICATION frameshift mutation QTL seed weight SOYBEAN to gain by loss 
A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility
《Asian Journal of Andrology》2023年第5期643-645,共3页Si-Yi Zhao Lan-Lan Meng Zhao-Li Du Yue-Qiu Tan Wen-Bin He Xiong Wang 
supported by grants from the National Key Research and Development Program of China(2022YFC2702604);the National Natural Science Foundation of China(82171608,82201773,and 81971447);the China Postdoctoral Science Foundation(2022M711119);the Scientific Research Foundation of the Health Committee of Hunan Province(B202301039323 and B202301039518).
Male infertility is a major reproductive disorder,which is clinically characterized by highly heterogeneous phenotypes of abnormal sperm count or quality.To date,five male patients with biallelic loss-of-function(LOF)...
关键词：loss-of-function variant male infertility oligo-astheno-teratozoospermia PARN-like ribonuclease domain-containing exonuclease 1 
Inhibiting WNT secretion reduces high bone mass caused by Sost loss-of-function or gain-of-function mutations in Lrp5被引量：2
《Bone Research》2023年第3期595-606,共12页Cassandra R.Diegel Ina Kramer Charles Moes Gabrielle E.Foxa Mitchell J.McDonald Zachary B.Madaj Sabine Guth Jun Liu Jennifer L.Harris Michaela Kneissel Bart O.Williams 
Proper regulation of Wnt signaling is critical for normal bone development and homeostasis.Mutations in several Wnt signaling components,which increase the activity of the pathway in the skeleton,cause high bone mass ...
关键词：HOMEOSTASIS function mass 
FBXW7βloss-of-function enhances FASN-mediated lipogenesis and promotes colorectal cancer growth被引量：6
《Signal Transduction and Targeted Therapy》2023年第6期3123-3143,共21页Wenxia Wei Baifu Qin Weijie Wen Boyu Zhang Haidan Luo Yuzhi Wang Hui Xu Xiaoshan Xie Sicheng Liu Xin Jiang Mengan Wang Qin Tang Jiayu Zhang Runxiang Yang Zongmin Fan Haiwen Lyu Junzhong Lin Kai Li Mong-Hong Lee 
supported by National Key R&D Program of China(2020YFA0803300),the Basic and Applied Basic Research Program of Guangzhou City(202102020084);the Basic and Applied Basic Research Program of Guangdong Province(2023A1515030245),the Natural Science Foundation of Guangdong Province(2021A1515012081);the National Natural Science Foundation of China(81630072);the Guangzhou Science and Technology Program Project(202206010167).
Continuous de novo fatty acid synthesis is required for the biosynthetic demands of tumor.FBXW7 is a highly mutated gene in CRC,but its biological functions in cancer are not fully characterized.Here,we report that FB...
关键词：FBXW7 SUSTAINED FASN 
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