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A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction

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Journal of Geriatric Cardiology 2022年第7期19卷 531-538页

作者： xue-qi dong Pei-Pei qiN Di ZHANG qiong-Yu ZHANG Yi QU Lin ZHAO Yi-Ting LU Yu-Xiao HU Chun-xue YANG Xin-Chang LIU Ya-Xin LIU Xian-Liang ZHOU Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Department of Obstetrics and Gynecology Peking Union Medical College HospitalBeijingChina

BACKGROUND Left ventricular noncompaction(LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogenic mutation leading to disease in a Chinese LVNC *** A 3-generation family affected by LVNC was recruited. Clinical assessments were performed on available family members, with clinical examination, ECG, echocardiography and cardiac MRI. The proband(Ⅰ-2), the proband’s daughter(Ⅱ-1, affected) and mother(Ⅲ-1, unaffected) were selected for WGS. Sanger sequencing were performed in all of the 4 surviving family *** Combined whole genome sequencing with linkage analysis identified a novel missense mutation in the giant protein obscurin(OBSCN NM_001098623, c.C19063T), as the only plausible disease-causing variant that segregates with disease among the four surviving individuals, with interrogation of the entire genome excluding other potential causes. This c.C19063T missense mutation resulted in p.R6355W in the encoded OBSCN protein. It affected a highly conserved residue in the C terminus of the obscurin-B-like isoform between the PH and STKc domains, which was predicted to affect the function of the protein by different bioinformatics *** Here we present clinical and genetic evidence implicating the novel R6355W missense mutation in obscurin as the cause of familial LVNC. This expands the spectrum of obscurin’s roles in cardiomyopathies. It furthermore highlights that rare obscurin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here. This study also provided new insights into the molecular basis of OBSCN mutation positive LVNC.

关键词： ventricular mother linkage

Implication of a novel truncating mutation in titin as a cause of autosomal dominant left ventricular noncompaction

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Journal of Geriatric Cardiology 2022年第4期19卷 301-314页

作者： 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 Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Department of Echocardiography Fuwai HospitalNatio-nal Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Institute of Medicinal Biotechnology Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina State Key Laboratory of Membrane Biology Institute of ZoologyChinese Academy of ScienceBeijingChina

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 are *** the present study,we identified a novel TTN mutation in a pedigree with LVNC and investigated the potential pathogenic mechanism by functional *** The whole-genome sequencing with linkage analysis was performed in a 3-generation family affected by autoso-mal dominant LVNC *** clustered regularly interspaced short palindromic repeats associated protein 9(CRISPR/Cas9)technology was used to establish novel truncating mutation in TTN in a rat cardiomyoblast H9C2 cell line in vitro,in which functional studies were carried out and characterized in comparison to its wild-type *** A novel truncating mutation TTN p.R2021X was identified as the only plausible disease-causing variant that segreg-ated with disease among the five surviving affected individuals,with an interrogation of the entire genome excluding other po-tential *** reverse transcription-polymerase chain reaction and cellular immunofluorescence supported a haplo-insufficient disease mechanism in titin truncation mutation *** functional studies suggested mitochondrial abnormities in the presence of mutation,including decreased oxygen consumption rate,reduced adenosine triphosphate produc-tion,impaired activity of electron translation chain,and abnormal mitochondrial structure on electron *** aut-ophagy under electron microscopy accompanied with activation of the Akt-mTORC1 signaling pathway was observed in TTN p.R2021X truncation mutation *** The TTN p.R2021X mutation has a function in the cause of a highly penetrant familial *** findings expand the spectrum of titin’s roles in cardiomyopathies and provide novel insight into the molecular basis of titin-tr

关键词： linkage mechanism impaired

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《西游记》动画传播的美学思考

求是学刊 2013年第5期40卷 142-148页

作者：齐学东福建广播电视大学文法系福建福州350003

在根据古代小说改编和新编的动画影视作品中,和《西游记》相关的作品最多、最成功。从解释学、接受美学的维度看,小说《西游记》在改编和新编成动画片时,因为小说语言转换成动画画面、原著文本的历史视野和导演们的当代视野的融合、观... 详细信息

在根据古代小说改编和新编的动画影视作品中,和《西游记》相关的作品最多、最成功。从解释学、接受美学的维度看,小说《西游记》在改编和新编成动画片时,因为小说语言转换成动画画面、原著文本的历史视野和导演们的当代视野的融合、观众的期待视野对创作和欣赏的作用,使得动画作品和原著不可避免地产生差异。忠实于原著的改编作品都尽量保留原著的情节、人物形象,通过作品传播古代文化,给人以教益。新编类型的作品,更关注娱乐性、趣味性,以搞笑为能事,但也能激起观众对原著的兴趣和重新认识。

关键词：《西游记》改编新编美学思考

索隐派的旧版翻新——评“刘心武揭秘《红楼梦》”

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福建师范大学学报（哲学社会科学版） 2006年第3期 127-131页

作者：齐学东福建广播电视大学福建福州350003

刘心武揭秘《红楼梦》是利用考证派的成果,把索隐与考证结合起来的新索隐派。他的“揭秘”热闹有趣,并借助央视的力量,影响巨大,但却不可信。我们应该以平常心对待此事,通过“百家争鸣”,促进“红学”的发展。

关键词：索隐派刘心武《红楼梦》 “红学”

Management of solid renal tumour associated with von Hippel-Lindau disease

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Chinese Medical Journal 2007年第22期120卷 2049-2052页

作者： ZHANG Jin HUANG Yi-ran LIU dong-ming ZHOU Li-xin xue Wei CHEN qi dong Bai-jun PAN Jia-hua XUAN Han-qing Department of Urology Renji Hospital Shanghai Jiaotong University Medical School Shanghai 200127 China

Von Hippel-Lindau （VHL） disease is a rare autosomal dominant disorder caused by germ line mutations of the VHL tumour suppressor gene. it predisposes affected individuals to develop a variety of neoplasms, including haemangioblastomas of the central nervous system, retinal angiomas, renal cell carcinomas （RCCs）, pheochromocytomas and cysts of the kidneys and epididymis. Germ line VHL mutations have been found in all VHL disease families. RCC occurs in 25% to 45% of patients with VHL disease and is one of the leading causes of death.

关键词： Hippel-Lindau disease germ line mutation renal cell carcinoma nephron -sparing surgery

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快速瀑布模型动态副本创建策略研究

系统仿真学报 2008年第15期20卷 4054-4056,4063页

作者：亓雪冬仝兆岐何潮观中国石油大学地球资源与信息学院山东东营257062 胜利油田物探研究院山东东营257022

在高性能数据网格中,动态副本创建策略能使用户访问远程大数据文件时有效的减少带宽消耗和访问延迟。提出了多层数据网格环境下一种新的动态副本创建策略——快速瀑布模型算法。OptorSim网格仿真器也被修改用以更好的适应多层数据网格... 详细信息

在高性能数据网格中,动态副本创建策略能使用户访问远程大数据文件时有效的减少带宽消耗和访问延迟。提出了多层数据网格环境下一种新的动态副本创建策略——快速瀑布模型算法。OptorSim网格仿真器也被修改用以更好的适应多层数据网格架构和研究这种算法的性能。仿真结果表明:对比Fast Spread,LRU,LFU,Economy-Bin和Economy-Zipf五种算法,快速瀑布模型算法能在随机访问模式下有效地减少数据访问的平均响应时间,并且其优势随着用户提交作业数量的增加而增大。

关键词：副本数据网格仿真性能

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

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Chinese Medical Journal 2019年第2期132卷 127-134页

作者： Peng Fan Chao-Xia Lu xue-qi dong Di Zhu Kun-qi Yang Ke-qiang Liu Di Zhang Ying Zhang Xu Meng Hui-qiong Tan Li-Tian YU Ke-Fei DOU Ya-Xin Liu xue Zhang Xian-Liang Zhou Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100005China Emergency and Cdtical Care Center Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China

Background:Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) *** involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and *** with genotype, it helps us precisely diagnose and treat for ***:Sanger sequencing was used to characterize DES variation, and then a minigene assay was used to verify the effect of splice-site mutation on pre-mRNA *** were analyzed based on clinical characteristics associated with ***:A splicing mutation (c.735+1G>T) in DES was detected in the proband.A minigene assay revealed skipping of the whole exon 3 and transcription of abnormal pre-mRNA lacking 32 *** affected family member who carried the identical mutation, was identified with a novel phenotype of desminopathy, non-compaction of ventricular *** were 2 different phenotypes varied in cardiomyopathy and skeletal myopathy among the 2 patients, but no significant correlation between genotype and phenotype was ***:We reported a novel phenotype with a splicing mutation in DES, enlarging the spectrum of phenotype in *** studies of desminopathy should promote our understanding of its pathogenesis and provide a precise molecular diagnosis of this disorder, facilitating clinical prevention and treatment at an early stage.

关键词： Desminopathy Cardiomyopathy Desmin gene Splicing mutation

基于网格技术的地震资料并行处理平台建设与应用

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中国石油大学学报（自然科学版） 2014年第2期38卷 180-186页

作者：钟敏陈朝根葛宇飞亓雪冬梁鸿仝兆岐中国石油大学计算机与通信工程学院山东青岛266580 中国石油大学地球科学与技术学院山东青岛266580

针对地球物理勘探领域海量数据处理需求和行业高性能资源整合需求,结合地震资料数据并行处理特征,利用网格技术建设应用网格分布并行处理平台,详细介绍平台的体系结构和关键技术,成功部署包含两个虚拟社区的应用网格平台。进行Marmousi... 详细信息

针对地球物理勘探领域海量数据处理需求和行业高性能资源整合需求,结合地震资料数据并行处理特征,利用网格技术建设应用网格分布并行处理平台,详细介绍平台的体系结构和关键技术,成功部署包含两个虚拟社区的应用网格平台。进行Marmousi模型地震波场正演模拟网格并行处理、基于模糊聚类作业划分策略的叠前深度偏移并行处理、积分法叠前时间偏移并行处理。验证了平台的稳定性和并行作业划分策略的有效性,平台效率与传统并行处理平台相比效率相当。结果表明,利用该平台可以进一步整合更多高性能资源,扩大并行处理规模,提高资源的利用率,缩短数据处理周期。

关键词：网格分布并行元调度地震资料处理

回火温度对Cr26-16Mn双金属复合板组织及力学性能的影响

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金属热处理 2016年第12期41卷 141-145页

作者：薛屺周毅董朋朋范萍李欢西南石油大学材料科学与工程学院四川成都610500

对比分析了Cr26-16Mn双金属复合材料与单一Cr26铸铁、16Mn钢的力学性能,利用OM、SEM、XRD等研究了回火温度对Cr26-16Mn双金属复合板组织及性能的影响。结果表明：在1000℃淬火条件下,随回火温度的升高,Cr26-16Mn复合板基材Cr26铸铁和复... 详细信息

对比分析了Cr26-16Mn双金属复合材料与单一Cr26铸铁、16Mn钢的力学性能,利用OM、SEM、XRD等研究了回火温度对Cr26-16Mn双金属复合板组织及性能的影响。结果表明：在1000℃淬火条件下,随回火温度的升高,Cr26-16Mn复合板基材Cr26铸铁和复层16Mn钢硬度均降低,单一16Mn钢及复合板冲击性能提高,复合板冲击吸收能量为单一Cr26铸铁的6~7倍。520℃以下回火时,Cr26铸铁中马氏体分解,残留奥氏体转变析出二次碳化物,基材硬度变化较小;随着回火温度提高,Cr26铸铁组织中析出大量二次碳化物,马氏体分解增加,硬度明显降低。16Mn钢在回火过程中马氏体形态消失,铁素体含量增加,冲击性能提高。在1000℃淬火时,Cr26-16Mn复合板在420~520℃回火能获得较好的硬度及冲击性能。

关键词： Cr26-16Mn双金属复合板回火温度组织硬度冲击性能