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GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

作者信息

Russo Roberta, Andolfo Immacolata, Gambale Antonella, De Rosa Gianluca, Manna Francesco, Arillo Alessandra, Wandroo Farooq, Bisconte Maria Grazia, Iolascon Achille

机构信息

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Italy

CEINGE Biotecnologie Avanzate, Napoli, Italy.

出版信息

Haematologica. 2017 Sep;102(9):e371-e374. doi: 10.3324/haematol.2016.162966. Epub 2017 May 26.

DOI:10.3324/haematol.2016.162966
PMID:28550189
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5685218/
Abstract
摘要

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本文引用的文献

1
Increased levels of ERFE-encoding in patients with congenital dyserythropoietic anemia type II.II型先天性红细胞生成异常性贫血患者中编码ERFE的水平升高。
Blood. 2016 Oct 6;128(14):1899-1902. doi: 10.1182/blood-2016-06-724328. Epub 2016 Aug 18.
2
Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.对101例II型先天性红细胞生成异常性贫血（CDAII）患者队列的分析：24种新分子变异的描述及基因型-表型相关性
Br J Haematol. 2016 Nov;175(4):696-704. doi: 10.1111/bjh.14271. Epub 2016 Jul 29.
3
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits.影响红细胞性状的常见遗传变异的系统功能剖析
Cell. 2016 Jun 2;165(6):1530-1545. doi: 10.1016/j.cell.2016.04.048.
4
Diagnosis and management of congenital dyserythropoietic anemias.先天性红细胞生成异常性贫血的诊断与管理
Expert Rev Hematol. 2016 Mar;9(3):283-96. doi: 10.1586/17474086.2016.1131608. Epub 2016 Jan 6.
5
GATA family transcriptional factors: emerging suspects in hematologic disorders.GATA家族转录因子：血液系统疾病中的新可疑因素。
Exp Hematol Oncol. 2015 Oct 6;4:28. doi: 10.1186/s40164-015-0024-z. eCollection 2015.
6
Global transcriptome and chromatin occupancy analysis reveal the short isoform of GATA1 is deficient for erythroid specification and gene expression.全球转录组和染色质占据分析表明，GATA1的短异构体在红细胞分化和基因表达方面存在缺陷。
Haematologica. 2015 May;100(5):575-84. doi: 10.3324/haematol.2014.112714. Epub 2015 Feb 14.
7
Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation.主要调控因子的染色质占据情况改变是红系分化转录图谱进化差异的基础。
PLoS Genet. 2014 Dec 18;10(12):e1004890. doi: 10.1371/journal.pgen.1004890. eCollection 2014 Dec.
8
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.与GATA1-R216W突变相关的先天性红细胞生成性卟啉病：诊断面临的挑战
Eur J Haematol. 2015 Jun;94(6):491-7. doi: 10.1111/ejh.12452. Epub 2014 Oct 25.
9
HSP70 sequestration by free α-globin promotes ineffective erythropoiesis in β-thalassaemia.游离α-珠蛋白对 HSP70 的隔离作用促进β-地中海贫血无效造血。
Nature. 2014 Oct 9;514(7521):242-6. doi: 10.1038/nature13614. Epub 2014 Aug 24.
10
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.回顾性队列研究 205 例先天性红细胞生成性贫血Ⅱ型：临床和分子谱定义及新诊断评分的确定。
Am J Hematol. 2014 Oct;89(10):E169-75. doi: 10.1002/ajh.23800. Epub 2014 Jul 22.