-
在结果中检索

检索结果分析

结果分析中...
检索条件："关键词=loss-of-function "
共 条 记 录，以下是1-10

发文量、被引量趋势图

全选清除导出
参考文献引证文献引用追踪
视图：
排序：
显示条数：
Less Is More, Natural Loss-of-Function Mutation Is a Strategy for Adaptation被引量：4
《Plant Communications》2020年第6期34-42,共9页Yong-Chao Xu Ya-Long Guo 
supported by the National Natural Science Foundation of China(31925004);the Strategic Priority Research Program of the Chinese Academy of Sciences(XDB27010305);the Innovative Academy of Seed Design,Chinese Academy of Sciences.
Gene gain and loss are crucial factors that shape the evolutionary success of diverse organisms.In the past two decades,more attention has been paid to the significance of gene gain through gene duplication or de novo...
关键词：adaptive evolution BIODIVERSITY essential genes LOSS-OF-FUNCTION natural variation 
Pharmacologic inducers of the uric acid exporter ABCG2 as potential drugs for treatment of gouty arthritis被引量：18
《Asian Journal of Pharmaceutical Sciences》2020年第2期173-180,共8页Bojana Ristic Mohd Omar Faruk Sikder Yangzom D.Bhutia Vadivel Ganapathy 
This work was supported by the National Institutes of Health grant R41 AR074854;the Welch Endowed Chair in Biochemistry,Grant No.BI-0028,at Texas Tech University Health Sciences Center.
Uric acid is the end product of purine catabolism and its plasma levels are maintained below its maximum solubility in water(6–7 mg/dl).The plasma levels are tightly regulated as the balance between the rate of produ...
关键词：Uric acid excretion Intestine ABCG2 LOSS-OF-FUNCTION mutations GOUTY arthritis PHARMACOLOGIC INDUCERS 
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 
Novel oncogenes and tumor suppressor genes in hepatocellular carcinoma被引量：3
《Liver Research》2021年第4期195-203,共9页Fang Wang Peter Breslin S J Wei Qiu 
Hepatocellular carcinoma(HCC)is a very deadly disease.HCC initiation and progression involve multiple genetic events,including the activation of proto-oncogenes and disruption of the function of specific tumor suppres...
关键词：Hepatocellular carcinoma(HCC) ONCOGENE Tumor suppressor Activation LOSS-OF-FUNCTION 
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 
A mutation in TBXT causes congenital vertebral malformations in humans and mice
《Journal of Genetics and Genomics》2024年第4期433-442,共10页Shuxia Chen Yunping Lei Yajun Yang Chennan Liu Lele Kuang Li Jin Richard HFinnell Xueyan Yang Hongyan Wang 
supported by the National Key R&D Program of China(2021YFC2701101 to H.W.and X.Y.);the National Natural Science Foundation of China(81930036 and 82150008 to H.W.,and 31000542 to X.Y.);the Commission of Science and Technology of Shanghai Municipality(20JC1418500 to H.W.).
T-box transcription factor T(TBXT;T)is required for mesodermal formation and axial skeletal development.Although it has been extensively studied in various model organisms,human congenital vertebral malformations(CVMs...
关键词：Congenital vertebral malformation TBXT T gene Loss-of-function mutation 
A Traceable Cancer Model: DNA Damage, Fragile Site-SMGs, Mitotic Slippage, 4n-Genome-Reduction to Fitness-Gained, Initiating, 2n First Cells被引量：1
《Journal of Cancer Therapy》2021年第6期365-386,共22页Kirsten H. Walen 
We have known since 1976 that cancer evolves clonally from one initiated normal human cell, the first cell. Today we see that this fact has been ...
关键词：S-Period-DDR 2n-4n-90° Nuclear Turn Cytoskeleton/Cell Polarity Amitosis Time-Short Cell Cycle Fitness-Gain ANEUPLOIDY Loss-of-Function Genetics Parasitic-Tumor Life Therapy-Possibilities 
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 
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 
大麦稃壳白化突变性状的遗传解析
《作物学报》2024年第12期3046-3054,共9页孙曼 安朝丹 高广奇 郭杰 杨平 蒋枞璁 
中国农业科学院科技创新工程项目(农科英才计划-杨平)资助。
大麦(Hordeum vulgare L.)稃壳是在小穗上包裹种子的花器官,包括内稃和外稃。大麦稃壳具有光合作用能力,为籽粒发育提供部分营养物质。通过EMS诱变获得的大麦稃壳白化突变体,其稃壳明显呈白色,叶枕、茎节和茎基部均呈白化变异,但叶片和...
关键词：大麦 稃壳 白化突变体 HvGLK2 功能缺失 
全选清除导出
共2页<12>
检索报告 对象比较 聚类工具 使用帮助 返回顶部