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Mutation-independent gene knock-in therapy targeting 5′UTR for autosomal dominant retinitis pigmentosa

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Signal Transduction and Targeted Therapy 2023年第4期8卷 1361-1363页

作者： Duc Anh Hoang Baoshan Liao zongli zheng Wenjun Xiong Department of Biomedical Sciences City University of Hong KongHong KongChina Key Laboratory of Biochip Technology Biotech and Health CentreShenzhen Research Institute of City University of Hong KongShenzhenChina TUNG Biomedical Sciences Centre City University of Hong KongHong KongChina Ming Wai Lau Centre for Reparative Medicine Karolinska InstitutetHong KongChina These authors contributed equally:Duc Anh HoangBaoshan Liao

Dear Editor,Retinitis pigmentosa(RP)is an inherited photoreceptor degeneration disease with high genetic heterogeneity(>90 disease-causing genes according to RetNet:https://***/RetNet/***).Taking a single RP disease gene RHO as an example,there are more than two hundred loss-of-function and gain-of-function mutations identified.1 While gene supplementation therapy has emerged as the most promising treatment for autosomal recessive RP(arRP)and X-linked RP(ClinicalTrials identifier:NCT01482195,NCT03328130,NCT03116113,NCT03252847,NCT03316560),therapeutic approaches to treat autosomal dominant RP(adRP)fall behind due to the low efficiency to disrupt mutant alleles specifically and a broad spectrum of the gain-of-function mutations.

关键词： autosomal degeneration identifier

Cancer-associated histone mutation H2BG53D disrupts DNA–histone octamer interaction and promotes oncogenic phenotypes

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Signal Transduction and Targeted Therapy 2020年第1期5卷 2230-2233页

作者： Yi Ching Esther Wan Tsz Chui Sophia Leung Dongbo Ding Xulun Sun Jiaxian Liu Lina Zhu Tze Zhen Evangeline Kang Du Yang Yuchen Zhang Jitian Zhang Chengmin Qian Michael Shing Yan Huen Qing Li Maggie Zi Ying Chow zongli zheng Junhong Han Ajay Goel Xin Wang Toyotaka Ishibashi Kui Ming Chan Department of Biomedical Sciences City University of Hong KongHong KongChina Key Laboratory of Biochip Technology Biotech and Health CentreShenzhen Research Institute of City University of Hong KongShenzhenChina Division of Life Science Hong Kong University of Science and TechnologyHong KongChina State Key Laboratory of Protein and Plant Gene Research School of Life Sciences and Peking-Tsinghua Center for Life SciencesPeking UniversityPekingChina School of Biomedical Sciences The University of Hong KongHong KongChina Ming Wai Lau Centre for Reparative Medicine Karolinska InstitutetHong KongChina State Key Laboratory of Biotherapy and Cancer Center West China HospitalWest China Medical SchoolSichuan UniversitySichuanChina Department of Molecular Diagnostics and Experimental Therapeutics Beckman Research Institute at City of Hope Comprehensive Cancer CenterDuarteCAUSA

Dear Editor,Recent studies from us and others have deciphered the clinical relevance of a variety of oncohistones1 in different *** H3K27M and H3K36M mutant histones exert dominant-negative effects on methylation levels of histone H3K27 and H3K36 on wildtype histone protein in pediatric brain cancers2–4 and chondroblastoma,5,6 *** contrast to H3K27M and H3K36M that act in trans to cause global reduction of methylation at the respective residues,the H3G34 mutations,including H3G34V/R and H3G34W/L found in pediatric high-grade glioma and giant cell tumor of the bone,affect the H3K36 methylation in cis and alter the H3K36 methylation on the nucleosome containing the H3G34 mutation(s).

关键词： Cancer clinical pediatric

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掺铁尾矿水泥稳定碎石基层力学性能研究

科学技术创新 2023年第6期 113-116页

作者：郑宗利甘肃路桥第三公路工程有限责任公司甘肃兰州

为了研究铁尾矿在道路基层中大规模利用的可行性,本研究以力学强度最优为原则确定了铁尾矿砂、粗铁尾矿对水泥稳定碎石基层力学性能的影响,并在最大掺量下研究了水泥稳定碎石力学性质增长规律。结果表明:随铁尾矿砂掺量的增加,无侧限抗... 详细信息

为了研究铁尾矿在道路基层中大规模利用的可行性,本研究以力学强度最优为原则确定了铁尾矿砂、粗铁尾矿对水泥稳定碎石基层力学性能的影响,并在最大掺量下研究了水泥稳定碎石力学性质增长规律。结果表明:随铁尾矿砂掺量的增加,无侧限抗压强度基本呈线性下降趋势;随粗铁尾矿集料掺量的增加,水泥稳定碎石的无侧限抗压强度逐渐减小,且减小速率逐渐增大,4%水泥剂量下粗铁尾矿集料最大掺量为80%。铁尾矿的掺量对强度大小有影响,但不影响强度增长规律。

关键词：铁尾矿水泥稳定碎石力学强度最大掺量再生利用

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亚甲基四氢叶酸还原酶基因多态与胃癌易感性

中国公共卫生 2005年第6期21卷 661-663页

作者：毕建萍蔡琳郑宗立福建医科大学公共卫生学院流行病与卫生统计学教研室福州350004 福建省厦门市卫生局疾病预防控制科

目的探讨福建省人群亚甲基四氢叶酸还原酶(MTHFR)C667T基因多态与贲门癌、非贲门部胃癌易感性关系,及其与叶酸摄入和饮酒的交互作用。方法采用共同对照的病例对照研究方法,聚合酶链反应限制性片段长度多态性(PCRRFLP)方法检测基因型。... 详细信息

目的探讨福建省人群亚甲基四氢叶酸还原酶(MTHFR)C667T基因多态与贲门癌、非贲门部胃癌易感性关系,及其与叶酸摄入和饮酒的交互作用。方法采用共同对照的病例对照研究方法,聚合酶链反应限制性片段长度多态性(PCRRFLP)方法检测基因型。结果多因素分析结果显示,MTHFR变异基因型(CT或TT)增加非贲门部胃癌发生的危险。变异基因型与新鲜蔬菜、水果摄入少和常饮酒在贲门癌发生中存在交互作用,与豆制品和新鲜水果低摄入在非贲门部胃癌发生中存在交互作用。结论MTHFR变异基因型与低叶酸和常饮酒协同增加贲门癌发生的危险,变异基因型是非贲门部胃癌的危险因素,与低叶酸摄入协同增加非贲门部胃癌的危险。贲门癌与非贲门部胃癌的危险因素不尽相同。

关键词：亚甲基四氢叶酸还原酶基因多态性胃癌贲门癌非贲门部胃癌交互作用

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岩溶隧道突涌水预警体系的建立

灾害学 2022年第1期37卷 41-46页

作者：郑宗利关惠军苟想伟石恒岳于咏妍甘肃路桥建设集团有限公司甘肃兰州730030 交通运输部公路科学研究所北京100088

为加强岩溶隧道突涌水预警的准确性,基于理论分析方法及岩溶隧道实际特点,提出溶洞侵入及未侵入隧道两类情况下的岩溶隧道突涌水预警体系的建立方法。通过理论分析,确定了突涌水的主要影响因素及其发生过程中变化显著的监测项目。选择... 详细信息

为加强岩溶隧道突涌水预警的准确性,基于理论分析方法及岩溶隧道实际特点,提出溶洞侵入及未侵入隧道两类情况下的岩溶隧道突涌水预警体系的建立方法。通过理论分析,确定了突涌水的主要影响因素及其发生过程中变化显著的监测项目。选择溶洞特质、水的变化、岩盘破损程度、节理裂隙形态为预警体系的主要评价指标。根据溶洞与隧道相对位置关系,建立溶洞侵入及未侵入隧道两种类型的突涌水预警体系。工程应用显示预警结果与现场吻合较好,验证了预警体系的合理性与可行性。

关键词：突涌水预警体系四色预警岩溶隧道

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公路工程中智能安全帽功能定位研究

建筑经济 2022年第S1期43卷 826-831页

作者：关惠军郑宗利何立东陈圣波缪培刚于咏妍甘肃路桥第三公路工程有限责任公司甘肃兰州730000 交通运输部公路科学研究所北京100088

分析智能安全帽的基本要求和现有技术,确定其在公路工程建设中应用的可能性。选择不同背景的公路工程建设管理人员,对智能安全帽的关注程度及功能需求进行调研。根据调查人员的特点以及对智能安全帽了解程度,确定各调查人员的自身及职... 详细信息

分析智能安全帽的基本要求和现有技术,确定其在公路工程建设中应用的可能性。选择不同背景的公路工程建设管理人员,对智能安全帽的关注程度及功能需求进行调研。根据调查人员的特点以及对智能安全帽了解程度,确定各调查人员的自身及职业权重系数,对调查结果进行处理。根据调查的处理分析结果,提出智能安全帽系统包括进入工作区域管理、人员定位管理、安全预警管理三大模块。

关键词：智能安全帽公路工程功能定位工程管理

Spatial distribution of supraglacial debris thickness on glaciers of the China-Pakistan Economic Corridor and surroundings

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Research in Cold and Arid Regions 2020年第6期12卷 447-460页

作者： YaJie zheng Yong Zhang Ju Gu Xin Wang zongli Jiang JunFeng Wei School of Resource Environment and Safety Engineering Hunan University of Science and TechnologyXiangtanHuan 411201China

Debris-covered glaciers,characterized by the presence of supraglacial debris mantles in their ablation zones,are widespread in the China-Pakistan Economic Corridor(CPEC)and *** these glaciers,thin debris layers accelerate the melting of underlying ice compared to that of bare ice,while thick debris layers retard ice melting,called debriscover *** about the thickness and thermal properties of debris cover on CPEC glaciers is still unclear,making it difficult to assess the regional debris-cover *** this study,thermal resistance of the debris layer estimated from remotely sensed data reveals that about 54.0%of CPEC glaciers are debris-covered glaciers,on which the total debris-covered area is about 5,072 km2,accounting for 14.0%of the total glacier area of the study *** find that marked difference in the extent and thickness of debris cover is apparent from region to region,as well as the debris-cover effect.53.3%of the total debris-covered area of the study region is concentrated in Karakoram,followed by Pamir with 30.2%of the total debris-covered *** revealed by the thermal resistance,the debris thickness is thick in Hindu Kush on average,with the mean thermal resistance of 7.0×10^-2((m^2∙K)/W),followed by Karakoram,while the thickness in western Himalaya is thin with the mean value of 2.0×10^-2((m^2∙K)/W).Our findings provide a basis for better assessments of changes in debriscovered glaciers and their associated hydrological impacts in the CPEC and surroundings.

关键词： debris thickness debris-cover effect thermal resistance ice melting CPEC

Pollen-inferred vegetation and environmental changes since 16.7 ka BP at Balikun Lake, Xinjiang

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Chinese Science Bulletin 2010年第22期55卷 2449-2457页

作者： TAO ShiChen AN ChenBang CHEN FaHu TANG LingYu WANG zongli LU YanBin LI ZhiFei zheng TongMing ZHAO JiaJu MOR Key Laboratory of West China's Environmental System Lanzhou University Lanzhou 730000 China Nanjing Institute of Geology and Paleontology Chinese Academy of Sciences Nanjing 210008 China

A high-resolution fossil pollen record from the sedimentary cores of Balikun Lake, northwestern China, combined with modern surface pollen data, is used to reconstruct the history of vegetation and climatic change since 16.7 cal. ka BP. Fossil pollen assem-blages and lithology indicate that the study area was dominated by desert. The desert had extremely arid climate and lower effec-tive moisture during 16.7–7.9 cal. ka BP, especially from 16.7 to 8.9 cal. ka BP when the lake maybe dried up. During 8.9–7.9 cal. ka BP, the environment gradually recovered in this area. It was then followed by the optimum period from 7.9 to 4.3 cal. Ka BP, when the effective moisture obviously increased. It was characterized by the typical desert-steppe/steppe vegetation and was ac-companied with several patch-birch woodlands around the lake. After that, a short but extremely arid climatic event occurred during 4.3–3.8 cal. ka BP, and the vegetation quickly changed from desert-steppe/steppe to desert. It was a relatively optimum period from 3.8 to 0.53 cal. ka BP showing typical desert-steppe/meadow-steppe landscape. Since 0.53 cal. ka BP, the climate has shown signs of deteriorating again. Furthermore, regional comparison shows that the characteristics of climatic and environmental evolution in this area were clearly different from East Asia monsoonal area during the last 16.7 cal. ka BP. It was characterized by the arid climate during the late-glacial and early Holocene, and relatively wet during the mid-late Holocene.

关键词：环境变化巴里坤湖花粉记录 BP 植被中晚全新世新疆气候变化

急性StanfordA型主动脉夹层患者术后机械通气时间延长危险因素的研究进展

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实用心脑肺血管病杂志 2024年第9期32卷 16-20页

作者：魏展华蔡忠香任宗力蔡馨周佳莉冷慧君郑瑶长江大学医学部湖北省荆州市434023 武汉大学人民医院护理部湖北省武汉市430060 武汉大学人民医院心外科湖北省武汉市430060

急性Stanford A型主动脉夹层是心脏大血管外科最为常见的急危重症之一,具有起病急骤、发病迅速、并发症多等特点。部分急性Stanford A型主动脉夹层患者术后短期内难以拔除气管插管,这会严重影响预后。本文回顾了急性Stanford A型主动脉... 详细信息

急性Stanford A型主动脉夹层是心脏大血管外科最为常见的急危重症之一,具有起病急骤、发病迅速、并发症多等特点。部分急性Stanford A型主动脉夹层患者术后短期内难以拔除气管插管,这会严重影响预后。本文回顾了急性Stanford A型主动脉夹层患者术后机械通气时间延长的定义和相关机制,分析了急性Stanford A型主动脉夹层患者术后机械通气时间延长的相关危险因素,旨在帮助医护工作者早期识别术后机械通气时间延长高风险的急性StanfordA型主动脉夹层患者,从而制定有效干预措施,改善患者预后。

关键词：主动脉疾病主动脉夹层呼吸,人工危险因素综述