检索结果-南通市图书馆

Correction of a CADASIL point mutation using adenine base editors in hiPsCsandbloodvessel organoids

Journal of Genetics and Genomics 2024年第2期51卷 197-207页

作者： Jingwen Wang Lei Zhang Guanglan Wu Jinni Wu Xinyao Zhou Xiaolin Chen Yongxia Niu Yiren Jiao Qianyi Liu Puping Liang Guang Shi Xueqing Wu Junjiu Huang MOE Key Laboratory of Gene Function and Regulation State Key Laboratory of BiocontrolSchool of Life SciencesSun Yat-sen UniversityGuangzhouGuangdong 510275China Key Laboratory of Reproductive Medicine of Guangdong Province The First Affiliated Hospital and School of Life SciencesSun Yat-sen UniversityGuangzhouGuangdong 510275China Center of Reproductive Medicine Children's Hospital of Shanxi and Women Health Center of ShanxiTaiyuanShanxi 030013China

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic small vessel disease caused by mutations in the NOTCH3 gene. However, the pathogenesis of CADASIL remains unclear, and patients have limited treatment options. Here, we use human induced pluripotent stem cells (hiPSCs) generated from the peripheral blood mononuclear cells of a patient with CADASIL carrying a heterozygous NOTCH3 mutation (c.1261C>T, p.R421C) to develop a disease model. The correction efficiency of different adenine base editors (ABEs) is tested using the HEK293T-NOTCH3 reporter cell line. ABEmax is selected based on its higher efficiency and minimization of predicted off-target effects. Vascular smooth muscle cells (VSMCs) differentiated from CADASIL hiPSCs show NOTCH3 deposition and abnormal actin cytoskeleton structure, and the abnormalities are recovered in corrected hiPSC-derived VSMCs. Furthermore, CADASIL blood vessel organoids generated for in vivo modeling show altered expression of genes related to disease phenotypes, including the downregulation of cell adhesion, extracellular matrix organization, and vessel development. The dual adeno-associated virus (aav) split-ABEmax system is applied to the genome editing of vascular organoids with an average editing efficiency of 8.82%. Collectively, we present potential genetic therapeutic strategies for patients with CADASIL using blood vessel organoids and the dual aav split-ABEmax system.

关键词： CADASIL Induced pluripotent stem cells Adenine base editors aav Blood vessel Organoid

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

从1例鼻窦炎的诊治认识抗中性粒细胞胞浆抗体相关性血管炎

引用

中国耳鼻咽喉颅底外科杂志 2024年第2期30卷 46-49页

作者：刘雪峰杨智玲何佳怡何健马世融甘肃省人民医院耳鼻咽喉头颈外科甘肃兰州730000

抗中性粒细胞胞浆抗体相关性血管炎(antineutrophil cytoplasmic antibody associated vasculitis,aav)在耳鼻咽喉头颈外科临床少见,其临床常表现为鼻出血、鼻溃疡、鼻息肉、鼻窦炎等,尤其病变早期局限时常被误诊。但是aav的早发现,早... 详细信息

抗中性粒细胞胞浆抗体相关性血管炎(antineutrophil cytoplasmic antibody associated vasculitis,aav)在耳鼻咽喉头颈外科临床少见,其临床常表现为鼻出血、鼻溃疡、鼻息肉、鼻窦炎等,尤其病变早期局限时常被误诊。但是aav的早发现,早治疗对其诊疗具有重要意义。本文报道1例早期以难治性鼻窦炎症状为主的aav诊疗过程,以其对临床起到借鉴作用。1临床资料患者,男,53岁,因鼻塞、流脓涕伴反复发热3d于2022年6月7日就诊于我院。

关键词：鼻窦炎 aav 耳鼻咽喉头颈外科鼻腔黏膜坏死抗中性粒细胞胞浆抗体相关性血管炎

来源：

维普期刊数据库博看期刊

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

aav基因治疗产品的免疫反应评估

引用

中国医药导刊 2024年第3期26卷 224-230页

作者：何丹夏艳吴小兵北京锦篮基因科技有限公司北京100176

随着生命科学技术的进步,基因治疗因其特异性和精准性等优势已成为新药研发的重点领域。其中,腺相关病毒(adeno-associated virus,aav)载体是一种应用前景广阔的体内基因治疗载体,也是基因治疗产品载体研究的热点。目前,全球范围内已有7... 详细信息

随着生命科学技术的进步,基因治疗因其特异性和精准性等优势已成为新药研发的重点领域。其中,腺相关病毒(adeno-associated virus,aav)载体是一种应用前景广阔的体内基因治疗载体,也是基因治疗产品载体研究的热点。目前,全球范围内已有7款aav相关的基因治疗产品获批上市,并有多项临床试验正在进行。aav载体的免疫原性较低,但部分人群体内存在针对aav的预存免疫,其进入体内后也会诱导机体产生先天免疫反应,随后可能触发针对aav衣壳和转基因产物的适应性免疫反应,从而影响药物的有效性和安全性。本综述旨在概述aav基因治疗引起的免疫反应特征,并简要总结在临床前和临床研究中对aav基因治疗免疫反应的评估,以期为aav基因治疗药物评价提供参考。

关键词：腺相关病毒载体 aav 基因治疗免疫反应评估

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

眼科疾病aav载体基因疗法技术发展新动向

引用

工业微生物 2024年第1期54卷 200-202页

作者：奚静国家知识产权局专利局专利审查协作北京中心北京100160

提到“病毒”,相信大家对它的第一印象就是“致病”。文章介绍的腺相关病毒(aav)非但不“致病”,还能协助“治病”,是基因治疗技术的关键载体。文章对aav在眼科疾病治疗方面的技术发展动向、应用现状及技术瓶颈进行综述,对比国内外创新... 详细信息

提到“病毒”,相信大家对它的第一印象就是“致病”。文章介绍的腺相关病毒(aav)非但不“致病”,还能协助“治病”,是基因治疗技术的关键载体。文章对aav在眼科疾病治疗方面的技术发展动向、应用现状及技术瓶颈进行综述,对比国内外创新主体的专利布局情况,以期对该技术领域的发展热点和国内外发展差距进行初步了解。

关键词：腺相关病毒 aav 眼科疾病基因疗法

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

“逆天改命”，用自己的耳朵听世界 006

“逆天改命”，用自己的耳朵听世界

引用

新华日报

作者：谢诗涵杨彦

“我会播放不同音调的声音，如果你能听得见，就举一下手，好吗？” 在完全封闭的听力检测室内，14岁的少年聪聪点点头。一次举手，两次、三次、四次……隔着检查室的玻璃窗，聪聪妈妈眼泪一下子就涌了出来，远在江苏南京的陆玲主任听... 详细信息

“我会播放不同音调的声音，如果你能听得见，就举一下手，好吗？” 在完全封闭的听力检测室内，14岁的少年聪聪点点头。一次举手，两次、三次、四次……隔着检查室的玻璃窗，聪聪妈妈眼泪一下子就涌了出来，远在江苏南京的陆玲主任听到这个消息后，眼眶瞬间湿润了。“成功了!

关键词：耳聋基因干细胞基因治疗 aav 人工耳蜗听觉毛细胞

来源： cnki报纸评论

在线全文

cnki报纸

学校读者我要写书评

暂无评论

Non-cell-autonomous manner of aav administration to attenuate cardiomyocyte hypertrophy by targeting paracrine signaling on ECM to reduce viral dosage

引用

Signal Transduction and Targeted Therapy 2022年第2期7卷 352-355页

作者： Lei Liu Peng Yue Yue Zhang Yimin Hua Wenwei Bi Hualin Yan Hongyu Liao Jiawen Li Kaiyu Zhou Yifei Li Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of PediatricsWest China Second University HospitalSichuan UniversityChengduSichuanChina Institute of Neuroscience and Medicine 4 INM-4Forschungszentrum JülichJülichGermany Department of Medical Ultrasound West China HospitalSichuan UniversityChengduSichuanChina

Dear Editor,Adeno-associated virus(aav)is one of the most powerful vectors for exogenous gene delivery.1 However,the risks associated with the high dosages of aav administration that are required to achieve meaningful effects limit the applicability of this method.Generally,aav only presents cell autonomous manner in infected cells.Besides,mosaic genetic editing or gene therapy would trigger global biological function restore by above 30–40%infective ratio in heart diseases.

关键词： dosage aav autonomous

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Rassf2 overexpression mediated by aav promotes the supporting cell-to-hair cell transformation in the cochlea

再生工程(英文)

引用

再生工程(英文) 2023年第3期4卷 304-315页

作者： Liyan Zhang Jieyu Qi Yuan Fang Fangzhi Tan Yinyi Zhou Ziyu Zhang Qiuhan Sun Nianci Li Yideng Huang Jingwu Sun Renjie Chai State Key Laboratory of Digital Medical Engineering Department of Otolaryngology Head and Neck SurgeryZhongda HospitalSchool of Life Sciences and TechnologyAdvanced Institute for Life and HealthJiangsu Province High-Tech Key Laboratory for Bio-Medical ResearchSoutheast UniversityNanjing210096China Department of Otolaryngology The First Affiliated Hospital of Wenzhou Medical UniversityVillage ShangCaiOuhai DistrictWenzhou cityZhejiang province325000China Department of Otolaryngology Head and Neck Surgery the First Affiliated Hospital of University of Science and Technology of ChinaChina Department of Otolaryngology Head and Neck Surgery Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengduChina Co-Innovation Center of Neuroregeneration Nantong UniversityNantong 226001China Institute for Stem Cell and Regeneration Chinese Academy of ScienceBeijingChina Beijing Key Laboratory of Neural Regeneration and Repair Capital Medical University100069 BeijingChina

Sensory hair cells are responsible for detecting and transmitting sound in the inner ear,and damage to HCs leads to hearing loss.HCs do not regenerate spontaneously in adult mammals,which makes the hearing loss permanent.However,hair cells and supporting cells have the same precursors in the inner ear,and in newborn mice,the adjacent SCs can be activated by gene manipulation to differentiate into newly regenerated hair cells.Here,we demonstrate the role of the Ras association domain family member 2(Rassf2)in supporting cell to hair cell trans-differentiation in the inner ear.Using the aav vector(aav-ie)to upregulate Rassf2 expression promoted supporting cell division and hair cell production in cultured cochlear organoids.Also,aav-Rassf2 enhanced the regenerative ability of Lgr5+SCs in the postnatal cochlea without impairing hearing,and this might due to the modulation of the Wnt,Hedgehog and Notch signaling pathways.Furthermore,aav-Rassf2 enhances cochlear supporting cell division and hair cell production in the neomycin injury model.In summary,our results suggest that Rassf2 is a key component in HC regenerative repair,and gene modulation mediated by adeno-associated virus may be a promising gene therapy for hearing repair.

关键词： aav Rassf2 Hair cell regeneration Cochlea Organoid

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Long-term amelioration of an early-onset familial atrial fibrillation model with aav-mediated in vivo gene therapy

引用

Fundamental Research 2022年第6期2卷 829-835页

作者： Handan Hu Liren Wang Huiying Li Hailing Li Xi Chen Wenhui Peng Jun Wang Yongxiang Zhao Mingyao Liu Dali Li Shanghai Frontiers Science Center of Genome Editing and Cell Therapy Shanghai Key Laboratory of Regulatory BiologyInstitute of Biomedical Sciences and School of Life SciencesEast China Normal UniversityShanghai 200241China Southern Medical University Affiliated Fengxian Hospital Shanghai 201499China The Department of Cardiology Shanghai Tenth People's HospitalSchool of MedicineTongji UniversityShanghai 200072China Department of Pediatrics McGovern Medical SchoolThe University of Texas Health Science Center at HoustonHoustonTX 77030United States National Center for International Biotargeting Theranostics Guangxi Key Laboratory of Biotargeting TheranosticsCollaborative Innovation Center for Targeting Tumor TheranosticsGuangxi Medical UniversityGuangxi 530021China

Atrial fibrillation(AF)is a common cardiac disease with high prevalence in the general population.Despite a mild manifestation at the onset stage,it causes serious consequences,including sudden death,when the disease progresses to the late stage.Most available treatments of AF focus on symptom management or alleviation,due to a lack of fundamental knowledge and the fact that considerable variations of AF exist.With the popularisation of the next-generation sequencing technology,several causal genetic factors,including MYL4,have been discovered to contribute to AF,giving hope to developing its gene therapies.In this study,we attempted to treat a previously established rat AF model,which carried Myl4E11K/E11K loss of function mutation,via overexpression of exogenous wild-type Myl4 by aav9 vectors.Our results showed that delivery of Myl4 expressing aav9 to postnatal rat models rescued the symptoms of AF,indicating the therapeutic potential that early gene therapy intervention can achieve long-term effects in treating cardiac arrhythmias caused by gene mutations.

关键词： Atrial fibrillation Gene therapy aav 9Myl4 Genetic disorder

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

血浆置换和糖皮质激素治疗抗中性粒细胞胞质抗体相关性血管炎:临床实践指南

引用

英国医学杂志中文版 2022年第12期25卷 703-711页

作者：曾力楠 Michael Walsh Gordon H Guyatt Reed A C Siemieniuk David Collister Michelle Booth Paul Brown Lesha Farrar Mark Farrar Tracy Firth Lynn A Fussner Karin Kilian Mark A Little Thomas A Mavrakanas Reem A Mustafa Maryam Piram Lisa K Stamp 肖瑛琪 Lyubov Lytyn Thomas Agoritsas Per O Vandvik Alfred Mahr 刘峥(译) 徐佩佩(译) 张伶俐(校) 四川大学华西第二医院药学部/循证药学中心成都中国 Department of Health Research Methods Evidence and ImpactMcMaster UniversityHamiltonOntarioCanada Population Health Research Institute McMaster UniversityHamiltonOntarioCanada Department of Medicine McMaster UniversityHamiltonOntarioCanada St.Joseph′s Healthcare HamiltonOntarioCanada USA UK Division of Pulmonary Critical Careand Sleep MedicineDepartment of Internal MedicineThe Ohio State University Wexner Medical CenterColumbusOhioUSA Department of Rheumatology Oslo University HospitalOsloNorway Institute of Clinical Medicine University of OsloOsloNorway Trinity Translational Medicine Institute Trinity College DublinIreland Irish Centre for Vascular Biology Tallaght University HospitalDublinIreland Department of Medicine McGill University Health CentreMontrealQuebecCanada Department of Internal Medicine Division of Nephrology and HypertensionUniversity of Kansas Medical CenterKansasUSA CHU Sainte Justine Research Center Department of PediatricsUniversity of MontrealMontrealQuebecCanada CEREMAIA Centre d′épidémiologie et de santédes populations(CESP)University Paris-SaclayLe Kremlin BicêtreFrance University of Otago Christchurch ChristchurchNew Zealand 四川大学华西护理学院/华西医院护理部成都中国 Division of General Internal Medicine&Division of Clinical Epidemiology University Hospitals of GenevaGenevaSwitzerland Department of Medicine Lovisenberg Hospital TrustOsloNorway Rheumatology Clinic Department of Internal MedicineKantonsspital St GallenSt GallenSwitzerland 四川大学华西第二医院药学部四川大学华西第二医院循证药学中心国家药品监督管理局药物制剂体内外相关性技术研究重点实验室出生缺陷与相关妇儿疾病教育部重点实验室四川大学华西临床医学院四川大学华西医院中国循证医学中心

对于抗中性粒细胞胞质抗体(antineutrophil cytoplasmic antibody,ANCA)相关性血管炎(ANCA-associated vasculitis,aav)患者,血浆置换的作用是什么?接受治疗前6个月糖皮质激素的最佳剂量是多少?一项新发表的随机对照试验(randomised con... 详细信息

关键词：血浆置换抗中性粒细胞胞质抗体临床实践指南最佳剂量糖皮质激素 ANCA 随机对照试验 aav

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

CasRx-mediated RNA targeting prevents choroidal neovascularization in a mouse model of age-related macular degeneration

引用

National Science Review 2020年第5期7卷 835-837页

作者： Changyang Zhou Xinde Hu Cheng Tang Wenjia Liu Shaoran Wang Yingsi Zhou Qimeng Zhao Qiyu Bo Linyu Shi Xiaodong Sun Haibo Zhou Hui Yang Institute of Neuroscience State Key Laboratory of Neuroscience Key Laboratory of Primate Neurobiology CAS Center for Excellence in Brain Science and Intelligence Technology Shanghai Research Center for Brain Science and Brain-Inspired Intelligence Shanghai Institutes for Biological Sciences Chinese Academy of Sciences College of Life Sciences University of Chinese Academy of Sciences Department of Ophthalmology Shanghai General Hospital (Shanghai First People’s Hospital)Shanghai Jiao Tong University School of MedicineShanghai Key Laboratory of Fundus Diseases

RNA-targeting CRISPR system Cas13 offers an efficient approach for manipulating RNA transcripts in vitro. In this perspective, we provide a proof-of-concept demonstration that Cas13-mediated Vegfa knockdown in vivo co... 详细信息

关键词： aav AMD RNA CasRx-mediated RNA targeting prevents choroidal neovascularization in a mouse model of age-related macular degeneration

来源：

同方期刊数据库评论

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：