GAIN-OF-FUNCTION

作品数：17被引量：172H指数：7
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相关领域：医药卫生生物学更多>>
相关作者：周中军刘宝华侯静林琛莅更多>>
相关机构：香港大学复旦大学昆明理工大学暨南大学更多>>
相关期刊：《Stress Biology》《Acta Biochimica et Biophysica Sinica》《The Crop Journal》《hLife》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国家教育部博士点基金广东省自然科学基金更多>>
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Corrigendum to: Disruption of a DNA G-quadruplex causes a gain-of-function SCL45A1 variant relevant to developmental disorders
《Acta Biochimica et Biophysica Sinica》2024年第11期1722-1722,共1页Yuxi Chen Jiang Long Sixian Wu Yazhen Wei Fei Yan Qing Li Jierui Yan Nannan Zhang Wenming Xu 
In the original version of this manuscript,an error was found in the title.Modified title is as follows.The authors apologize for this error.
关键词：function error Modified 
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 
Dysregulated STAT1 gain-of-function:Pathogen-free autoimmunity and fungal infection
《hLife》2024年第8期397-418,共22页Liping Guo Dongli Lian Yuchen Gu Xiaoyu Lu Ying Zhang Xiaohe Li Tatyana Aleksandrovna Khrustaleva Jianfeng Lan Yanhua Liang Vladislav Victorovich Khrustalev Yanyan Mao Yafan Chen Hongzhou Lu Jing Yuan 
supported in part by the National Science and Technology Major Project(No.2021 YFC2301803);Shenzhen Fund for Guangdong Provincial High-Level Clinical Key Specialties(No.SZGSP011);Science and Technology Program of Shenzhen,China(No.JCYJ 20230807143411023);the clinical research project of Shenzhen Third Peoples Hospital(No.G2022044);the Teaching Quality and Teaching Reform Project of Education Department of Guangdong Province:Experimental Teaching Demonstration Center of Emerging Infectious Diseases(Y01411846).
Inborn errors of the signal transducer and activator of transcription 1(STAT1)result in four types of immunodeficiency disease with varying degrees of impaired STAT1 function:autosomal recessive(AR)complete STAT1 defi...
关键词：signal transducer and activator of transcription 1 gain-of-function(STAT-GOF)mutation fungal infection chronic mucocutaneous candidiasis(CMC) Talaromyces marneffei treatment 
Disruption of a DNA G-quadruplex causes a gain-of-function SCL45A1 variant relevant to developmental disorders
《Acta Biochimica et Biophysica Sinica》2024年第5期709-716,共8页Yuxi Chen Jiang Long Sixian Wu Yazhen Wei Fei Yan Qing Li Jierui Yan Nannan Zhang Wenming Xu 
supported by the grants from the Science and Technology Department of Sichuan Province(No.2021YJ0170);the Regional Innovation Cooperation Project of Sichuan Province(No.2022YFQ0100).
SLC45A1 encodes a glucose transporter protein highly expressed in the brain.Mutations in SLC45A1 may lead to neurological diseases and developmental disorders,but its exact role is poorly understood.DNA G-quadruplexes...
关键词：SLC45A1 DNA G4 transcriptional enhancement gain of function 
SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs被引量：1
《Acta Pharmacologica Sinica》2022年第12期3139-3148,共10页Qian-bei Guo Li Zhan Hai-yan Xu Zhao-bing Gao Yue-ming Zheng 
This work was supported by the National Science Fund for Distinguished Young Scholars(81825021);the National Natural Science Foundation of China(81773707);the Youth Innovation Promotion Association of the Chinese Academy of Sciences(2020284);the Fund of Science and Technology Commission of Shanghai Municipality(19431906000).
De novo missense mutations in SCN8A gene encoding voltage-gated sodium channel NaV1.6 are linked to a severe form of early infantile epileptic encephalopathy named early infantile epileptic encephalopathy type13(EIEE1...
关键词：early infantile epileptic encephalopathy type 13 SCN8A gain-of-function mutation antiepileptic drugs PHENYTOIN CARBAMAZEPINE 
A new gain-of-function OsGS2/GRF4 allele generated by CRISPR/Cas9 genome editing increases rice grain size and yield被引量：7
《The Crop Journal》2022年第4期1207-1212,共6页Wenshu Wang Weipeng Wang Yanlin Pan Chao Tan Hongjing Li Ya Chen Xingdan Liu Jing Wei Nian Xu Yu Han Han Gu Rongjian Ye Qi Ding Chonglie Ma 
supported by the National Key Research and Development Program of China(2016YFD0102000);“Breeding of Major New Varieties of Main Grain Crops”Program(2020ABA016)from Department of Science and Technology of Hubei Province.
Grain size is one of the most important factors affecting rice grain quality and yield,and attracts great attention from molecular biologists and breeders.In this study,we engineered a CRISPR/Cas9 system targeting the...
关键词：Genome editing GS2/GRF4 Grain size YIELD RICE 
The CRISPR/Cas9 revolution continues: From base editing to prime editing in plant science被引量：6
《Journal of Genetics and Genomics》2021年第8期661-670,共10页Yan Li Wenjing Li Jun Li 
financially supported by the National Natural Science Foundation of China (32000454);Provincial Natural Science Foundation of Hebei for Excellent Young Scholar (C2020204062);Program for Young Talents of Hebei Education Department (BJ2021025);Starting Grant from Hebei Agricultural University (YJ201958)。
The ability to precisely inactivate or modify genes in model organisms helps us understand the mysteries of life. Clustered regularly interspaced short palindromic repeats(CRISPR)/CRISPR-associated protein 9(Cas9), a ...
关键词：CRISPR/Cas9 Base editing Prime editing LOSS-OF-FUNCTION GAIN-OF-FUNCTION DNA free 
Gain-of-function mutations of AtNHX1 suppress sos1 salt sensitivity and improve salt tolerance in Arabidopsis被引量：3
《Stress Biology》2021年第1期170-188,共19页Isaiah Catalino M.Pabuayon Jiafu Jiang Hongjia Qian Jung-Sung Chung Huazhong Shi 
supported by the US Department of Agriculture[National Research Initiative project 2007–35100-18378 to H.S.].
Soil salinity severely hampers agricultural productivity.Under salt stress,excess Na+accumulation causes cellular damage and plant growth retardation,and membrane Na+transporters play central roles in Na+uptake and ex...
关键词：sos1 suppressor AtHKT1 ATNHX1 GAIN-OF-FUNCTION Salt tolerance 
Hemophagocytic lymphohistiocytosis caused by STAT1 gain-offunction mutation is not driven by interferon-γ:A case report被引量：6
《World Journal of Clinical Cases》2020年第23期6130-6135,共6页Nan Liu Fen-Ying Zhao Xiao-Jun Xu 
BACKGROUND Hemophagocytic lymphohistiocytosis(HLH)is a life-threatening hyperinflammatory syndrome caused by many genetic defects.STAT1 is a DNAbinding factor that regulates gene transcription.HLH caused by STAT1 gain...
关键词：Hemophagocytic lymphohistiocytosis Signal transducer and activator of transcription 1 GAIN-OF-FUNCTION Interferon gamma Mycobacterial disease Case report 
Gain-of-function mutant p53 in cancer progression and therapy被引量：39
《Journal of Molecular Cell Biology》2020年第9期674-687,共14页Cen Zhang Juan Liu Dandan Xu Tianliang Zhang Wenwei Hu Zhaohui Feng 
This work was supported in part by grants from the National Institutes of Health(NIH;R01CA227912 and R01CA214746)to Z.F.and grants from NIH(R01CA203965);Congressionally Directed Medical Research Programs(CDMRP;W81XWH-16-1-0358 and W81XWH1810238)to W.H.
p53 is a key tumor suppressor,and loss of p53 function is frequently a prerequisite for cancer development.The p53 gene is the most frequently mutated gene in human cancers;p53 mutations occur in>50%of all human cance...
关键词：tumor suppressor p53 MUTATION GAIN-OF-FUNCTION TUMORIGENESIS cancer therapy 
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