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Confounding in ex vivo models of Diamond-Blackfan anemia.先天性纯红细胞再生障碍性贫血体外模型中的混杂因素。
Blood. 2017 Aug 31;130(9):1165-1168. doi: 10.1182/blood-2017-05-783191. Epub 2017 Jun 14.
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Diamond-Blackfan anemia: death by heme toxicity?
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Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.对在先天性纯红细胞再生障碍性贫血患者中鉴定出的蛋白酶体抑制剂对核糖体蛋白S19（RPS19）突变体影响的研究。
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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.
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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。
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Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.钻石黑fan贫血中FLVCR1基因增强的可变剪接破坏了对红细胞生成至关重要的FLVCR1表达和功能。
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Diamond-Blackfan anemia RPL35A: a case report.钻石黑范贫血RPL35A：一例报告
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Diamond Blackfan anemia: A paradigm for a ribosome-based disease.先天性纯红细胞再生障碍性贫血：一种基于核糖体疾病的范例。
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Diamond-Blackfan anemia: a ribosomal puzzle.钻石黑范贫血：一个核糖体难题。
Haematologica. 2008 Nov;93(11):1601-4. doi: 10.3324/haematol.2008.000513.

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The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.红细胞生成与铁稳态的相互作用在罕见遗传性贫血中的作用：打破平衡。
Int J Mol Sci. 2021 Feb 23;22(4):2204. doi: 10.3390/ijms22042204.
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Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.先天性难治性贫血 I 型（CDA-I）中红细胞生成的综述确定了分化缺陷和核仁异常。
Haematologica. 2021 Nov 1;106(11):2960-2970. doi: 10.3324/haematol.2020.260158.
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Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient.基因突变紊乱发生于先天性红细胞生成异常性贫血患者的突变 KLF1-E325K 表达后。
Haematologica. 2019 Dec;104(12):2372-2380. doi: 10.3324/haematol.2018.209858. Epub 2019 Mar 14.
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Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1.热休克蛋白 70/GATA1 对 Diamond-Blackfan 贫血珠蛋白-血红素平衡的调控。
Blood. 2019 Mar 21;133(12):1358-1370. doi: 10.1182/blood-2018-09-875674. Epub 2019 Jan 30.
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The Genetic Landscape of Diamond-Blackfan Anemia.先天性再生障碍性贫血的遗传学特征
Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29.
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Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome.钻石-黑范贫血的视角：来自一种罕见先天性骨髓衰竭综合征的经验教训。
Leukemia. 2018 Feb;32(2):249-251. doi: 10.1038/leu.2017.314. Epub 2017 Sep 8.
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Concise Review: Advanced Cell Culture Models for Diamond Blackfan Anemia and Other Erythroid Disorders.简明综述：用于 Diamond Blackfan 贫血症和其他红细胞疾病的先进细胞培养模型。
Stem Cells. 2018 Feb;36(2):172-179. doi: 10.1002/stem.2735. Epub 2017 Dec 5.
8
Response: Making "perfect" the enemy of good.回应：求全责备，反害善举。
Blood. 2017 Aug 31;130(9):1168-1169. doi: 10.1182/blood-2017-07-789107. Epub 2017 Jul 28.

本文引用的文献

1
Molecular convergence in ex vivo models of Diamond-Blackfan anemia.钻石黑范贫血症体外模型中的分子趋同现象
Blood. 2017 Jun 8;129(23):3111-3120. doi: 10.1182/blood-2017-01-760462. Epub 2017 Apr 4.
2
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors.利用重编程造血祖细胞进行钻石黑范贫血的药物发现。
Sci Transl Med. 2017 Feb 8;9(376). doi: 10.1126/scitranslmed.aah5645.
3
Lineage-specific and single-cell chromatin accessibility charts human hematopoiesis and leukemia evolution.谱系特异性和单细胞染色质可及性图谱描绘了人类造血作用和白血病的演变。
Nat Genet. 2016 Oct;48(10):1193-203. doi: 10.1038/ng.3646. Epub 2016 Aug 15.
4
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome.珠蛋白合成延迟导致血红素过量，进而引发钻石黑范贫血和5号染色体长臂缺失骨髓增生异常综合征的大细胞性贫血。
Sci Transl Med. 2016 May 11;8(338):338ra67. doi: 10.1126/scitranslmed.aaf3006.
5
Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis.成年小鼠中Rpl11部分缺失重现了先天性纯红细胞再生障碍性贫血并促进淋巴瘤发生。
Cell Rep. 2015 Oct 27;13(4):712-722. doi: 10.1016/j.celrep.2015.09.038. Epub 2015 Oct 17.
6
Robust enumeration of cell subsets from tissue expression profiles.从组织表达谱中可靠地枚举细胞亚群。
Nat Methods. 2015 May;12(5):453-7. doi: 10.1038/nmeth.3337. Epub 2015 Mar 30.
7
Computational and analytical challenges in single-cell transcriptomics.单细胞转录组学中的计算和分析挑战。
Nat Rev Genet. 2015 Mar;16(3):133-45. doi: 10.1038/nrg3833. Epub 2015 Jan 28.
8
Altered translation of GATA1 in Diamond-Blackfan anemia.GATA1 在 Diamond-Blackfan 贫血中的翻译改变。
Nat Med. 2014 Jul;20(7):748-53. doi: 10.1038/nm.3557. Epub 2014 Jun 22.
9
A comparison of gene set analysis methods in terms of sensitivity, prioritization and specificity.基因集分析方法在灵敏度、优先级和特异性方面的比较。
PLoS One. 2013 Nov 15;8(11):e79217. doi: 10.1371/journal.pone.0079217. eCollection 2013.
10
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.诱导多能干细胞来源的 Diamond Blackfan 贫血患者的核糖体和造血缺陷。
Blood. 2013 Aug 8;122(6):912-21. doi: 10.1182/blood-2013-01-478321. Epub 2013 Jun 6.

Confounding in ex vivo models of Diamond-Blackfan anemia.

作者信息

Ulirsch Jacob C, Lareau Caleb, Ludwig Leif S, Mohandas Narla, Nathan David G, Sankaran Vijay G

机构信息

Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and.

Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.

出版信息

Blood. 2017 Aug 31;130(9):1165-1168. doi: 10.1182/blood-2017-05-783191. Epub 2017 Jun 14.

DOI:10.1182/blood-2017-05-783191
PMID:28615220
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5580274/
Abstract
摘要