云南高校图书馆联盟文献共享服务平台- VARIANTS

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>>

Novel compound heterozygous variants in the TSPEAR gene causing autosomal recessive hearing loss in a Chinese family: 《Pediatric Investigation》2024年第4期313-315,共3页Xinyu Shi Xiaozhou Liu Zhengdong Zhao Yanjun Zong Yu Sun; funded by the Innovative Research Groups of Hubei Province(No.2023AFA038);the National Key Research and Development Program of China(No.2021YFF0702303,2023YFE0203200);the National Natural Science Foundation of China(No.82071058); To the editor:Hearing loss is the most common sensory disorder.TSPEAR gene encodes thrombospondin-type laminin G domain and epilepsy-associated repeats containing protein.1 While,patients with variants in the TSPEAR g...; 关键词：Chinese family VARIANT sensory disordertspear gene clinical phenotypesincluding TSPEAR gene congenital sensorineural hearing loss autosomal recessive hearing loss tspear gene

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

A new rhombohedral phase and its 48 variants inβtitanium alloy被引量：1: 《Transactions of Nonferrous Metals Society of China》2024年第9期2849-2863,共15页Xin-nan WANG Ming HAN Fu-rong ZHANG Guang-ming ZHAO Zhi-shou ZHU; financial supports from the National Natural Science Foundation of China(No.51071125);the Major Project of Department of Education of Jiangxi Province,China(No.GJJ210605)。; A new rhombohedral phase(termed R′)in a solution-aging-treated titanium alloy(Ti-4.5Al-6.5Mo-2Cr-2Nb-1V-1Sn-1Zr,wt.%)was identified.Its accurate Bravais lattice parameters were determined by a novel unit cell reconst...; 关键词：titanium alloy rhombohedral phase Bravais lattice reconstruction VARIANT orientation relationship

Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis: 《Pediatric Investigation》2024年第2期117-125,共9页Bin Zhang Rui He Riga Wu Zhou Yang Man Hu Nan Zhang Wu Guo Zigang Xu Lin Ma; Beijing Natural Science Foundation:Grant/Award Number:7222058;The Open Project of Henan Clinical Research Center of Childhood Diseases:Grant/Award Number:YJZX202209;National Regional Medical Center Opening Project:Grant/Award Number:NRMC0101;Investigator Initiated Project:Grant/Award Number:[2022]-E-028-Y;BCH Young Investigator Program(BCHYIP):Grant/Award Number:3-1-014-01-36。; Importance:Postzygotic mutations in the GNAQ/GNA11 genes,which encode the G-protein nucleotide binding protein alpha subunits,have been identified in patients with phakomatosis pigmentovascularis(PPV).However,little i...; 关键词：Phakomatosis pigmentovascularis GNA11 GNAQ Somatic variant

Dynamic evolution of an SVEIR model with variants and non-pharmaceutical interventions for controlling COVID-19被引量：1: 《Journal of Biosafety and Biosecurity》2024年第2期67-75,共9页Ruiyang Zhou Shaojian Cai Guangmin Chen Senzhong Huang Zhen Jin Zhihang Peng Weichuan Lin Fengying Wei Kuicheng Zheng; supported by Consultancy Project by the Chinese Academy of Engineering(2022-JB-06);supported by Special Projects of the Central Government Guiding Local Science and Technology Development(2021L3018);supported by the Natural Science Foundation of Fujian ProvinceProvince of China(2021J01621);supported by Fujian Science and Technology Innovation Platform Construction Project(2019Y2001);Health Science and Technology Project of Fujian Province(2020GGB019).; The epidemiological characteristics and distributions of two epidemics in Fujian Province of Southeast China were attributed to the complex interactions among variant,host,and non-pharmaceutical interventions(NPIs).Al...; 关键词：COVID-19 SVEIR model Transmission dynamics Non-pharmaceutical interventions Delta variant Omicron variant

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

Lab results of COVID-19 patients:Omicron vs delta variants: 《World Journal of Virology》2024年第2期71-77,共7页Dana Avraham Amir Herman Gal Shaham Arkady Shklyar Elina Sulim Maria Oulianski; BACKGROUND The coronavirus disease 2019(COVID-19)virus has been a world-known pan-demic since February 2020.Multiple variances had been established;the most common variants in Israel were omicron and delta.AIM To anal...; 关键词：COVID-19 CORONAVIRUS Omicron variant Delta variant

Sex Determination in Homo sapiens as a Multi-Step Process: Potential for Development of Variants and Sex Differences in Disease Risk: 《Journal of Biomedical Science and Engineering》2024年第1期13-34,共22页David A. Hart; Reproduction via cis-binary mechanisms appears to have evolved fairly early in the evolution of complex organisms, and a system committed to prior to evolution of humans. While the evolution of a chromosomal-specific ...; 关键词：Sex Determination Variant Development Fidelity of Sex Determination Biological Sex Determination Species Variation

RCoV19:A One-stop Hub for SARS-CoV-2 Genome Data Integration,Variant Monitoring,and Risk Pre-warning: 《Genomics, Proteomics & Bioinformatics》2023年第5期1066-1079,共14页Cuiping Li Lina Ma Dong Zou Rongqin Zhang Xue Bai Lun Li Gangao Wu Tianhao Huang Wei Zhao Enhui Jin Yiming Bao Shuhui Song; supported by grants from the National Key R&D Program of China(Grant Nos.2023YFC3041500 and 2021YFF0703703);the Key Collaborative Research Program of the Alliance of International Science Organizations(Grant No.ANSO-CR-KP-2022-09);the National Natural Science Foundation of China(Grant No.32270718);the Beijing Nova Program(Grant No.Z211100002121006);the Youth Innovation Promotion Association of the Chinese Academy of Sciences(Grant Nos.Y2021038 and 2019104),China.; The Resource for Coronavirus 2019(RCoV19)is an open-access information resource dedicated to providing valuable data on the genomes,mutations,and variants of the severe acute respiratory syndrome coronavirus 2(SARS-Co...; 关键词：SARS-CoV-2 Mutation VARIANTS Surveillance Pre-warning

Crystal structures of main proteases of SARS-CoV-2 variants bound to a benzothiazole-based inhibitor: 《Acta Biochimica et Biophysica Sinica》2023年第8期1257-1264,共8页Jiqing Luo Weiwei Wang Haihai Jiang Wenwen Li Pei Zeng Jie Wang Xuelan Zhou Xiaofang Zou Shenghui Chen Qisheng Wang Jin Zhang Jian Li; supported by the grants from the Gannan Medical University(No.QD201910);the Jiangxi Natural Science Foundation for Distinguished Young Scholars(No.20212ACB216001);the Jiangxi Key Research and Development Program(No.20203BBG73063);the Jiangxi“Double Thousand Plan(No.jxsq2019101064)”to J.L.;the Thousand Young Talents Program of China and the CAS“Light of West China”Program(2021)to J.Z.;the Natural Science Foundation of Jiangxi Province(No.20224BAB216004)to H.J.;the Shanghai Science and Technology Plan Project(No.21ZR1471800)to Q.W.; Main protease(Mpro)serves as an indispensable factor in the life cycle of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)as well as its constantly emerging variants and is therefore considered an attractiv...; 关键词：SARS-CoV-2 VARIANT main protease INHIBITOR BENZOTHIAZOLE YH-53

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