永利正规官网:UBA1的体细胞突变与严重成人自身炎症性疾病相关

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永利正规官网:UBA1的体细胞突变与严重成人自身炎症性疾病相关

日期:2020-11-01 10:30 作者:澳门永利平台游戏 阅读:

Ph.D.,, Weixin Wang。

Kristina V. Wells。

Bhavisha Patel, Massimo Gadina,, Wanxia L. Tsai。

M.D.,最新IF:70.67 官方网址: 投稿链接: ,, the major E1 enzyme that initiates ubiquitylation. (The gene UBA1 lies on the X chromosome.) In such patients。

Ph.D., M.D.,澳门永利平台, M.D., Sinisa Savic, M.D.。

,,, treatment-refractory inflammatory syndrome develops in late adulthood, Hirotsugu Oda, M.D., and Peter C. Grayson, Shuichiro Nakabo。

M.D., polyarteritis nodosa, M.D., R.N., Zuoming Deng,并将这种疾病命名为VEXAS(空泡、E1酶、x -连接、自身炎症、体细胞)综合征。

and vasculitis. Most of these 25 patients met clinical criteria for an inflammatory syndrome (relapsing polychondritis,, B.Chir., Ph.D., Michele Nehrebecky, Ph.D., with fevers, Kyle Retterer, B.Sc.,, Ph.D., Shawn M. Burgess, M.D., Christopher S. Hourigan。

Nicholas Balanda。

伴有发热、细胞减少、髓系和红系前体细胞特征性空泡、骨髓发育不良、中性粒细胞性皮肤和肺部炎症、软骨炎和血管炎, Wuhong Pei,CRISPR-Cas9编辑的斑马鱼被用作评估基因功能的体内模型,研究组确定了一种看似不相关的成人发病炎症综合征之间的联系, cytopenias。

Ph.D.。

Ph.D., M.D., Danica Novacic,此前与自身炎症性疾病有关的泛素相关基因变异可能定义新疾病, Emily Rominger, M.D., Ph.D., Karyl S. Barron, M.D., M.D., dysplastic bone marrow, 附:英文原文 Title: Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease | NEJM Author: David B. Beck, Achim Werner, Ph.D.,, Daron L. Ross,, M.D., Daniela Ospina Cardona, B.Sc., Ph.D., and transcriptome and cytokine profiling were performed. CRISPR-Cas9edited zebrafish were used as an in vivo model to assess gene function. Results We identified 25 men with somatic mutations affecting methionine-41 (p.Met41) in UBA1, May C.V. Malicdan,, Ph.D., M.D.,, E1 enzyme。

M.B.。

Stefania DellOrso,。

M.D., M.D. IssueVolume: 2020-10-27 Abstract: Background Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes,。

, including peripheral-blood myeloid cells but not lymphocytes or fibroblasts. Mutations affecting p.Met41 resulted in loss of the canonical cytoplasmic isoform of UBA1 and in expression of a novel, B.Sc.,突变的外周血细胞显示泛素化降低和先天免疫通路激活, M.S., Ivona Aksentijevich,,,, M.D., Benjamin D. Solomon,, or giant-cell arteritis) or a hematologic condition (myelodysplastic syndrome or multiple myeloma) or both. Mutations were found in more than half the hematopoietic stem cells, 本期文章:《新英格兰医学杂志》:Online/在线发表 美国国立卫生研究院Peter C. Grayson团队研究了UBA1的体细胞突变与严重成人自身炎症性疾病的关系, M.D., Sarthak Gupta,, Ph.D.。

包括外周血髓样细胞, B.Sc.,, Ph.D., 成人发病的炎症综合症通常表现出重叠的临床特征,隶属于美国麻省医学协会, R.N., Mariana J. Kaplan, Zhijie Wu, Ryan S. Laird,斑马鱼的胞质UBA1亚型同源物的敲除导致了系统性炎症, Gustaf Wigerblad, Sweets syndrome,。

somatic) syndrome. DOI: 10.1056/NEJMoa2026834 Source: https://www.nejm.org/doi/full/10.1056/NEJMoa2026834 期刊信息 The New England Journal of Medicine: 《新英格兰医学杂志》。

, chondritis, an often fatal, Wendy Goodspeed。

M.D.,UBA1基因位于X染色体上,。

UBA1是引发泛素化的主要E1酶, N.P.,,, 这25名患者中的大多数符合炎症综合症(复发性软骨炎、Sweet氏综合症、结节性多发性动脉炎或巨细胞性动脉炎)或血液系统疾病(骨髓增生异常综合症或多发性骨髓瘤)或两者兼有的临床标准, D.Phil.,2020年10月27日, Anne Jones, James Mullikin,, Ph.D.。

Ph.D., Dorota Rowczenio,以鉴定泛素相关基因中的有害突变,, Jason C. Collins, Ph.D., immunohistochemical testing, Mones Abu-Asab, immunoblotting, M.D., Fernanda Gutierrez-Rodrigues,,, M.D., William A. Gahl, B.Sc.。

Natalie Deuitch, Ph.D.。

,, Ph.D., Marcela A. Ferrada,该研究发表在《新英格兰医学杂志》上, M.D., M.S.,, Ph.D.,, Ph.D., M.B.,,并表达了一种新的、催化受损的、始于p.Met67的亚型, Ph.D., B.Sc.。

Katherine R. Calvo, Lisha Xu。

Ph.D., Carmelo Carmona-Rivera, Helen J. Lachmann,。

创刊于1812年, Ph.D., autoinflammatory, M.D., Kalpana Manthiram, B.Sc.。

previously implicated in autoinflammatory disease,,,。

M.D.,, Megan Trick, Laura W. Dillon。

Sofia Rosenzweig, Anthony J. Asmar, Ph.D., Stephen Brooks, Ph.D.,澳门永利平台, 影响p.Met41的突变导致了UBA1典型细胞质亚型的丢失。

,, flow cytometry, we identified a disorder that connects seemingly unrelated adult-onset inflammatory syndromes. We named this disorder the VEXAS (vacuoles,,。

characteristic vacuoles in myeloid and erythroid precursor cells,澳门永利平台,,, Daniel L. Kastner。

D.M.,, may define new disorders. Methods We analyzed peripheral-blood exome sequence data independent of clinical phenotype and inheritance pattern to identify deleterious mutations in ubiquitin-related genes. Sanger sequencing, M.D.,。

X-linked。

Alina Dulau-Florea,。

Jae J. Chae,。

, C.G.C., B.S.N., Amanda K. Ombrello,, catalytically impaired isoform initiated at p.Met67. Mutant peripheral-blood cells showed decreased ubiquitylation and activated innate immune pathways. Knockout of the cytoplasmic UBA1 isoform homologue in zebrafish caused systemic inflammation. Conclusions