TITIN

作品数:35被引量:66H指数:4
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相关领域:医药卫生生物学更多>>
相关作者:李俊平王瑞元徐玉明蒋晓萍方卫斌更多>>
相关机构:北京体育大学杭州师范大学苏州大学成都体育学院更多>>
相关期刊:《杭州师范大学学报(自然科学版)》《协和医学杂志》《Genes & Diseases》《浙江医学》更多>>
相关基金:国家自然科学基金国家教育部博士点基金山东省自然科学基金湖北省自然科学基金更多>>
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Novel compound heterozygous TTN gene variants with additional potential contributory mutations in two sisters with severe scoliosis:A case report
《Genes & Diseases》2025年第3期57-60,共4页Huaiyuan Wang Shengjie Li Weiyun Chen Jianxiong Shen 
supported by the National Natural Science Foundation of China(No.82272446).
Titin,the largest known protein in nature,is a giant sarcomeric protein that plays essential architectural,developmental,and regulatory roles in striated muscles.Mutations in the TTN gene(MIM:188840)that encodes titin...
关键词:compound heterozygous variants muscle diseases giant sarcomeric protein titinopathies SCOLIOSIS striated musclesmutations TITIN 
ALKBH5靶向调控Titin基因介导Wnt/β-catenin信号通路参与宫颈癌生物学行为的机制研究
《浙江医学》2025年第1期32-39,共8页胡益飞 吴淋淋 郑顺杰 
浙江省医药卫生科技计划项目(2021KY1184);金华市科技计划项目(2023-3-149)。
目的探讨ALKB同源物5(ALKBH5)靶向调控肌联蛋白(Titin)基因表达,并介导无翅型小鼠乳房肿瘤病毒整合位点家族蛋白(Wnt)/β-连锁蛋白(β-catenin)信号通路参与宫颈癌生物学行为的相关机制。方法回顾性选取2022年10月至2023年10月经金华市...
关键词:宫颈癌 ALKB同源物5 肌联蛋白 无翅型小鼠乳房肿瘤病毒整合位点家族蛋白/β-连锁蛋白信号通路 增殖 凋亡 迁移 侵袭 上皮间质转化 
Free energy calculation of titin Ig81 from SMD simulations using Jarzynski's equality
《分子科学学报》2024年第6期552-558,共7页HU Xin 
supported by Natural Science Foundation of Shandong Province(ZR2021QD126)。
The crystal structure of Ig81 domain confirms that the domain folds into a compactβ-sandwich,but with an evanescent BC-loop at the N-terminus.It is not clear whether the divergent BC-loop has an effect on the stabili...
关键词:Ig81 domain steered molecular dynamics Jarzynski's equality free energy 
18例AchR抗体、Titin抗体阳性重症肌无力临床特点分析
《罕少疾病杂志》2024年第7期119-121,共3页刘波 
目的探讨AchR抗体、Titin抗体双阳性的重症肌无力患者的临床特点。方法回顾分析AchR抗体、Titin抗体双阳性的重症肌无力病例(A组)18例,AchR抗体阳性重症肌无力病例(B组)20例。通过患者性别、首次发病年龄、首发临床症状、合并相关抗体情...
关键词:重症肌无力 AchR抗体 TITIN抗体 胸腺瘤 
肌联蛋白Titin突变与宫颈癌免疫和预后相关性研究
《解剖科学进展》2023年第6期569-572,共4页严聪 李恒 周琼 张飞忠 
湖北省卫健委2019-2020年青年人才项目(WJ2019Q048)。
目的分析宫颈癌(CC)中肌联蛋白Titin(TTN)突变与免疫应答之间的关联以及临床预后。方法宫颈癌的RNA-Seq、基因突变和临床生存数据从人类基因组图谱(TCGA)网站获取;GSE9750数据从基因表达综合数据库(GEO)获取。临床病例选择确诊为宫颈癌...
关键词:肌联蛋白Titin 突变 宫颈鳞状细胞癌 预后 免疫 
Effect of titin phosphorylation on degradation of titin from skeletal muscles
《Food Science and Human Wellness》2023年第4期1184-1191,共8页Ying Wang Xin Li Dequan Zhang Zheng Li Baocai Xu Jie Zhu 
financially supported by National Natural Science Foundation(32102035);the Agricultural Science and Technology Innovation Program(CAAS-ASTIP-2020-IFST-03);Central Public-interest Scientific Institution Basal Research(S2019RCJC01,S2020JBKY-16).
The degradation of titin could make the myofibrillar fragmentation to improve meat tenderization during postmortem.This study aimed to investigate effect of phosphorylation on titin degradation.Protein kinase A(PKA)an...
关键词:MEAT TITIN DEGRADATION PHOSPHORYLATION Alkaline phosphatase 
TTN、OBSCN轴在结直肠癌肝转移中免疫功能临床进展
《临床医学进展》2023年第3期3510-3514,共5页杜碧涟 谭云波 金礼权 
结肠直肠癌(Colorectal Cancer, CRC)是我国最常见的恶性肿瘤之一,其发病率呈上升趋势。结直肠癌肝转移是患者主要死亡原因,但其分子机制尚未明确。近年来,免疫治疗在结直肠癌治疗中取得重大进展,但对于结直肠癌肝转移患者只有少部分人...
关键词:结直肠癌 肝转移 TTN (Titin) OBSCN 
Implication of a novel truncating mutation in titin as a cause of autosomal dominant left ventricular noncompaction
《Journal of Geriatric Cardiology》2022年第4期301-314,共14页Xue-Qi DONG Di ZHANG Yi QU Yu-Xiao HU Chun-Xue YANG Tao TIAN Nan XU Hai-Lun JIANG Li ZENG Peng-Yan XIA Ya-Xin LIU Rui LIU Xian-Liang ZHOU 
supported by the National Key Research and Development Program of China(2016 YFC1300100);the National Natural Science Foundation of China(No.81974042);the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2019XK320058);the Peking Union Medical College Youth Fund(No.3332018058).
BACKGROUND Mutation in the titin gene(TTN)in left ventricular noncompaction(LVNC)has been reported with a highly heterogeneous prevalence,and the molecular mechanisms underlying the pathogenesis of TTN gene mutation a...
关键词:LINKAGE mechanism IMPAIRED 
A sandwich ELISA kit reveals marked elevation of titin N-terminal fragment levels in the urine of mdx mice被引量:2
《Animal Models and Experimental Medicine》2022年第1期48-55,共8页Taku Shirakawa Ayumu Ikushima Nobuhiro Maruyama Yoshinori Nambu Hiroyuki Awano Kayo Osawa Kei Nirasawa Yoichi Negishi Hisahide Nishio Shoji Fukushima Masafumi Matsuo 
supported in part by the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED;20314714 to M.M.)
The mdx mouse is a model of Duchenne muscular dystrophy(DMD),a fatal progressive muscle wasting disease caused by dystrophin deficiency,and is used most widely in preclinical studies.Mice with dystrophin deficiency,ho...
关键词:biomarker Duchenne muscular dystrophy ELISA mdx mouse TITIN URINE 
SLM2 Is A Novel Cardiac Splicing Factor Involved in Heart Failure due to Dilated Cardiomyopathy
《Genomics, Proteomics & Bioinformatics》2022年第1期129-146,共18页Jes-Niels Boeckel Maximilian Mobius-Winkler Marion Muller Sabine Rebs Nicole Eger Laura Schoppe Rewati Tappu Karoline E.Kokot Jasmin M.Kneuer Susanne Gaul Diana M.Bordalo Alan Lai Jan Haas Mahsa Ghanbari Philipp Drewe-Boss Martin Liss Hugo A.Katus Uwe Ohler Michael Gotthardt Ulrich Laufs Katrin Streckfuss-Bomeke Benjamin Meder 
supported by grants from the Deutsches Zentrum für Herz-Kreislauf-Forschung(German Center for Cardiovascular Research,DZHK,Germany);the German Ministry of Education and Research(Grant No.FKZ 031L0075B,Ca RNAtion,Germany);the Informatics for Life(Klaus Tschira Foundation,Germany);the Faculty of Medicine of the Leipzig University to MMW;the Dr.Marija Orlovic Stiftung(Grant No.T0395/35973/2020,Germany)to JNB;the European Union(Grant No.FP7 Best Ageing,Europe);supported by an excellence fellowship of the Else Kr?ner Fresenius Foundation(Germany)。
Alternative mRNA splicing is a fundamental process to increase the versatility of the genome.In humans,cardiac mRNA splicing is involved in the pathophysiology of heart failure.Mutations in the splicing factor RNA bin...
关键词:SPLICING TITIN Dilated cardiomyopathy KHDRBS3 SLM2 
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