VARIANTS

作品数：613被引量：1047H指数：14
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Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy without tuberous sclerosis
《Acta Epileptologica》2024年第4期336-342,共7页Nanxiang Shen Zhihong Zhuo Xiangyun Luo Bingmei Li Xuqing Lin Sheng Luo Zilong Ye Pengyu Wang Na He Yiwu Shi Weiping Liao 
supported by the National Natural Science Foundation of China(82271505);Guangzhou Medical University Student Innovation Ability Promoting Program(2022A045).
Background The TSC1 gene encodes a growth inhibitory protein hamartin,which plays a crucial role in negative regulation of the activity of mTORC1(mechanistic target of rapamycin complex 1).TSC1 has been associated wit...
关键词：TSC1 gene De novo variant Focal epilepsy Developmental and epileptic encephalopathy 
Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene:a case report
《Acta Epileptologica》2023年第4期264-271,共8页Suli Zhang Shuangzhu Lin Wanqi Wang Yuru Gan Cui Wang Bangtao Li Qiming Pang 
supported by Natural Science Foundation of Hainan Province of China(821RC1133).
Background Developmental and epileptic encephalopathy(DEE)is a group of rare inherited disorders characterized by intellectual disability,delayed development,epileptic seizures,and other related symptoms.DEE44 is caus...
关键词：Infantile spasms EPILEPSY Developmental and epileptic encephalopathy UBA5 gene 
Natural variants and editing events provide insights into routes for spike architecture modification in common wheat
《The Crop Journal》2023年第1期148-156,共9页Min Fan Xiaoyu Zhang Ragupathi Nagarajan Wenxuan Zhai Yahya Rauf Haiyan Jia Zhengqiang Ma Liuling Yan 
supported by the grants from the USDA National Institute of Food and Agriculture(NIFA)(2017-67007-25932 and 2022-68013-36439);the Oklahoma Center for Advanced Science and Technology(OCAST,AR17-020-03);the China Scholarship Council,and “Programme of Introducing Talents of Discipline to Universities”Project of China(B08025);a Short-term Exchange Fund in Agricultural College of Nanjing Agricultural University for her Ph.D.research work at the Oklahoma State University。
Spike architecture is an indicative trait of grain yield in common wheat(Triticum aestivum).A segregating population was generated for mapping genes contributing to spike morphometric traits by crossing the two common...
关键词：Q gene Spike shape miR172 Gene editing Wheat 
Association of variants in the KIF1A gene with amyotrophic lateral sclerosis被引量：1
《Translational Neurodegeneration》2022年第1期235-247,共13页Panlin Liao Yanchun Yuan Zhen Liu Xiaorong Hou Wanzhen Li Jin Wen Kexuan Zhang Bin Jiao Lu Shen Hong Jiang Jifeng Guo Beisha Tang Zhuohua Zhang Zhonghua Hu Junling Wang 
the National Key R&D Program of China(2021YFA0805200);the National Major Projects in Brain Science and Brain-like Research(2021ZD0201803 to J.W.);the National Natural Science Foundation of China(82171431,81671120,81300981 to J.W.,31872778 and 82171506 to Z.H.);the National Key Research and Development Program of China(#2018YFC1312003 to J.W.);the Natural Science Fund for Distinguished Young Scholars of Hunan Province,China(2020JJ2057 to J.W.);the Project Program of National Clinical Research Center for Geriatric Disorders at Xiangya Hospital(2020LNJJ13 to J.W.);Key Research and Development Programs from Hunan Province(2021DK2001 to Z.H.);the Innovative Team Program from Hunan Province(2019RS1010);the Innovation-driven Team Project from Central South University(2020CX016);the Discipline Innovative Engineering Plan(111 Program)of China(B13036).Z.H.is supported by the Hunan Hundred Talents Program for Young Outstanding Scientists.
Background:Amyotrophic lateral sclerosis(ALS)is a devastating progressive neurodegenerative disease that affects neurons in the central nervous system and the spinal cord.As in many other neurodegenerative disorders,t...
关键词：Amyotrophic lateral sclerosis KIF1A Axonal transport Presynaptic vesicle precursors 
Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study
《Frontiers of Medicine》2021年第3期438-447,共10页Yanghui Chen Yang Sun Zongzhe Li Chenze Li Lei Xiao Jiaqi Dai Shiyang Li Hao Liu Dong Hu Dongyang Wu Senlin Hu Bo Yu Peng Chen Ping Xu Wei Kong Dao Wen Wang 
This work was supported by the National Natural Science Foundation of China(Nos.91839302,91439203,and 81700413);the National Key R&D Program of China(No.2017YFC0909400);the Municipal Science and Technology Major Project(No.2017SHZDZX01).
Thoracic aortic dissection(TAD)without familial clustering or syndromic features is known as sporadic TAD(STAD).So far,the genetic basis of STAD remains unknown.Whole exome sequencing was performed in 223 STAD patient...
关键词：sporadic thoracic aortic dissection exome sequencing gene COL3A1 case–control study extracellular matrix 
Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease
《Quantitative Biology》2021年第2期216-227,共12页Mo Li Xue Zeng Chentian Jin Sheng Chih Jin Weilai Dong Martina Brueckner Richard Lifton Qiongshi Lu Hongyu Zhao 
the National Institutes of Health(NIH)grants R01 GM134005,and the National Science Foundation(NSF)grants DMS 1902903.Dr.Sheng Chih Jin's effort was supported by the Pathway to Independence Award(K99/R00)program,grants K99HL143036-01A1 and R00HL143036-02.
Background:Whole-exome sequencing(WES)studies have identified multiple genes enriched for de novo mutations(DNMs)in congenital heart disease(CHD)probands.However,risk gene identification based on DNMs alone remains st...
关键词：rare variants gene-level association test congenital heart disease de novo mutation 
ixed Dubin-Gilbert Syndrome： A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene被引量：5
《Chinese Medical Journal》2017年第8期1003-1005,共3页Jun Jiang Hua-Gui Wang Wei-Li Wu Xiang-Xin Peng 
Gilbert syndrome （GS, MIM #143500） is characterized by fluctuating mild, unconjugated hyperbilirubinemia 〈85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate （UDP）-glucuronosyltransferase g...
关键词：ABCC2 Gene Dubin-Johnson Syndrome Gilbert＇s Syndrome HYPERBILIRUBINEMIA UGTIAI Gene 
Association of gene variants with susceptibility to type 2 diabetes among Omanis被引量：3
《World Journal of Diabetes》2015年第2期358-366,共9页Sawsan Al-Sinani Nicolas Woodhouse Ali Al-Mamari Omaima Al-Shafie Mohammed Al-Shafaee Said Al-Yahyaee Mohammed Hassan Deepali Jaju Khamis Al-Hashmi Mohammed Al-Abri Khalid Al-Rassadi Syed Rizvi Yengo Loic Philippe Froguel Riad Bayoumi 
Supported by The Research Council(TRC),Muscat,Oman,No.RC/MED/BIOC/10/01
AIM:To investigate the association of 10 known common gene variants with susceptibility to type 2diabetes mellitus(T2D)among Omanis.METHODS:Using case-control design,a total of992 diabetic patients and 294 normoglycem...
关键词：Type 2 DIABETES GENETICS Oman Casecontrol ASSOCIATION GENE VARIANTS 
Variants of tumor necrosis factor-induced protein 3 gene are associated with left ventricular hypertrophy in hypertensive patients被引量：4
《Chinese Medical Journal》2011年第10期1498-1503,共6页XUE Hao WANG Shu-xia WANG Xiao-jian XIN Ying WANG Hu SONG Xiao-dong SUN Kai WANG Yi-bo HUI Ru-tai 
Background Tumor necrosis factor-induced protein 3 （TNFAIP3） gene has been shown important in cardiac remodeling. The aim of the present study was to investigate whether the variants of TNFAIP3 gene are associated w...
关键词：tumor necrosis factor induced protein 3 POLYMORPHISM left ventricular hypertrophy HYPERTENSION 
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