• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Somatic reversion events point towards as a novel disease gene in a condition resembling Diamond-Blackfan anemia.

作者信息

Jongmans Marjolijn C J, Diets Illja J, Quarello Paola, Garelli Emanuela, Kuiper Roland P, Pfundt Rolph

机构信息

Department of Human Genetics, Radboud university medical center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands

Department of Medical Genetics, University Medical Center Utrecht, the Netherlands.

出版信息

Haematologica. 2018 Dec;103(12):e607-e609. doi: 10.3324/haematol.2018.200683. Epub 2018 Sep 13.

DOI:10.3324/haematol.2018.200683
PMID:30213830
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6269308/
Abstract
摘要

相似文献

1
Somatic reversion events point towards as a novel disease gene in a condition resembling Diamond-Blackfan anemia.体细胞回复事件表明在一种类似于先天性纯红细胞再生障碍性贫血的病症中，[具体基因名称缺失]是一个新的致病基因。
Haematologica. 2018 Dec;103(12):e607-e609. doi: 10.3324/haematol.2018.200683. Epub 2018 Sep 13.
2
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.鉴定一位中国 Diamond-Blackfan 贫血症患者的新型 RPS26 无义突变。
BMC Med Genet. 2019 Jul 5;20(1):120. doi: 10.1186/s12881-019-0848-1.
3
The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.核糖体蛋白S19的功能及其与先天性纯红细胞再生障碍性贫血的关系：综述
Mol Genet Metab. 2007 Apr;90(4):358-62. doi: 10.1016/j.ymgme.2006.11.004. Epub 2006 Dec 18.
4
Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.因核糖体蛋白S19错义突变导致的重症先天性纯红细胞再生障碍性贫血
Pediatr Int. 2016 Sep;58(9):930-3. doi: 10.1111/ped.13018. Epub 2016 Sep 6.
5
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.捷克钻石-黑范贫血患者核糖体蛋白L5（RPL5）和核糖体蛋白L11（RPL11）基因突变的鉴定
Hum Mutat. 2009 Mar;30(3):321-7. doi: 10.1002/humu.20874.
6
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.通过全外显子组测序在先天性纯红细胞再生障碍性贫血中鉴定出的RPL27和RPS27功能丧失突变。
Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25.
7
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.核糖体蛋白S26（RPS26）基因的突变会导致钻石黑范贫血患者出现克利珀尔-费尔综合征吗？来自捷克钻石黑范贫血登记处的最新情况。
Blood Cells Mol Dis. 2011 Apr 15;46(4):300-1. doi: 10.1016/j.bcmd.2011.02.003.
8
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.一位 Diamond-Blackfan 贫血患者的核糖体蛋白 S17 基因（RPS17）中存在一种新的起始密码子突变。
Pediatr Blood Cancer. 2010 Apr;54(4):629-31. doi: 10.1002/pbc.22316.
9
[Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia].[21例先天性纯红细胞再生障碍性贫血核糖体蛋白基因突变分析]
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Dec;20(6):1414-8.
10
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.希腊钻石黑范贫血患者中RPS19、RPL5和RPL11基因的临床表型及遗传分析
Pediatr Blood Cancer. 2014 Dec;61(12):2249-55. doi: 10.1002/pbc.25183. Epub 2014 Aug 17.

引用本文的文献

1
CASIN exerts anti-aging effects through RPL4 on the skin of naturally aging mice.CASIN通过RPL4对自然衰老小鼠的皮肤发挥抗衰老作用。
Aging Cell. 2024 Dec;23(12):e14333. doi: 10.1111/acel.14333. Epub 2024 Sep 17.
2
Pan-cancer analysis of the prognostic and immunological role of RPL4.RPL4预后及免疫作用的泛癌分析
Heliyon. 2024 Jul 14;10(14):e34461. doi: 10.1016/j.heliyon.2024.e34461. eCollection 2024 Jul 30.
3
Reducing the aneuploid cell burden - cell competition and the ribosome connection.降低非整倍体细胞负担——细胞竞争和核糖体的联系。
Dis Model Mech. 2022 Nov 1;15(11). doi: 10.1242/dmm.049673. Epub 2022 Nov 29.
4
Dedicated chaperones coordinate co-translational regulation of ribosomal protein production with ribosome assembly to preserve proteostasis.专职共翻译分子协调核糖体蛋白生物合成的共翻译调控与核糖体组装，以维持蛋白质的稳定。
Elife. 2022 Mar 31;11:e74255. doi: 10.7554/eLife.74255.
5
Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.儿童骨髓增生异常综合征的经验教训：遗传性易患血液系统恶性肿瘤的研究方法
Front Oncol. 2022 Mar 9;12:813149. doi: 10.3389/fonc.2022.813149. eCollection 2022.
6
Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell-extrinsic contributions to erythropoiesis.对 DBA 和嵌合小鼠马赛克患者的研究揭示了红细胞外细胞对红细胞生成的贡献。
Blood. 2022 Jun 9;139(23):3439-3449. doi: 10.1182/blood.2021013507.
7
A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.一个新的鼠类 Rpl5(uL18)突变提供了一种可变外显率 Diamond-Blackfan 贫血的独特模型。
Blood Adv. 2021 Oct 26;5(20):4167-4178. doi: 10.1182/bloodadvances.2021004658.
8
Somatic mosaicism in inherited bone marrow failure syndromes.遗传性骨髓衰竭综合征中的体体细胞嵌合现象。
Best Pract Res Clin Haematol. 2021 Jun;34(2):101279. doi: 10.1016/j.beha.2021.101279. Epub 2021 Jun 27.
9
Approach to the diagnosis of aplastic anemia.再生障碍性贫血的诊断方法。
Blood Adv. 2021 Jun 22;5(12):2660-2671. doi: 10.1182/bloodadvances.2021004345.
10
Emerging mechanisms of cell competition.细胞竞争的新兴机制。
Nat Rev Genet. 2020 Nov;21(11):683-697. doi: 10.1038/s41576-020-0262-8. Epub 2020 Aug 10.

本文引用的文献

1
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.一组遗传性骨髓衰竭患者的种系突变景观。
Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16.
2
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.自我回复性突变部分纠正了一名先天性纯红细胞再生障碍性贫血患者的血液表型。
Haematologica. 2017 Dec;102(12):e506-e509. doi: 10.3324/haematol.2017.166678. Epub 2017 Sep 29.
3
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.全外显子组测序在先天性纯红细胞再生障碍性贫血鉴别诊断中的应用：3例携带新型RPL5和嵌合型RPS19突变患者的临床及分子研究
Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6.
4
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.通过全面的基因组特征分析确定的先天性纯红细胞再生障碍性贫血的新的和已知的核糖体病因。
J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9.
5
Gain-of-function mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.功能获得性突变会引发血细胞减少、免疫缺陷、骨髓增生异常综合征及神经症状的综合征。
Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15.
6
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.核糖体RNA分析在先天性纯红细胞再生障碍性贫血诊断中的应用
Br J Haematol. 2016 Mar;172(5):782-5. doi: 10.1111/bjh.13880. Epub 2016 Jan 13.
7
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.先天性角化不良症中的有丝分裂重组导致的返祖体性嵌合体。
Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16.
8
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.鱼鳞病患者中的有丝分裂重组导致 KRT10 显性突变的回复。
Science. 2010 Oct 1;330(6000):94-7. doi: 10.1126/science.1192280. Epub 2010 Aug 26.
9
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.核糖体蛋白基因 RPS10 和 RPS26 常发生突变导致 Diamond-Blackfan 贫血。
Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28.
10
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.诊断与治疗先天性纯红细胞再生障碍性贫血：国际临床共识会议结果
Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30.