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Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.

作者信息

Varricchio Lilian, Godbold James, Scott Stuart A, Whitsett Carolyn, Da Costa Lydie, Pospisilova Dagmar, Garelli Emanuela, Quarello Paola, Ramenghi Ugo, Migliaccio Anna Rita

出版信息

Blood. 2011 Jul 14;118(2):473-4. doi: 10.1182/blood-2011-03-342139.

DOI:10.1182/blood-2011-03-342139
PMID:21757629
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3138697/
Abstract
摘要

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Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.先天性纯红细胞再生障碍性贫血患者糖皮质激素受体A3669G(rs6198)多态性频率增加。
Blood. 2011 Jul 14;118(2):473-4. doi: 10.1182/blood-2011-03-342139.
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Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.钻石-黑范贫血临床实用基因卡——2013年更新版
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Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.Diamond-Blackfan 贫血的分子分析及基因型-表型相关性研究。
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J Med Case Rep. 2019 Jun 18;13(1):185. doi: 10.1186/s13256-019-2127-3.
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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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The glucocorticoid receptor A3669G SNP is not associated with polycythemia vera, essential thrombocythemia or primary myelofibrosis.糖皮质激素受体A3669G单核苷酸多态性与真性红细胞增多症、原发性血小板增多症或原发性骨髓纤维化无关。
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The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.捷克国家 Diamond-Blackfan 贫血症登记处:临床数据和核糖体蛋白突变更新。
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Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry.改善临床护理并阐明先天性纯红细胞再生障碍性贫血的病理生理学:来自先天性纯红细胞再生障碍性贫血登记处的最新情况
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The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.先天性纯红细胞再生障碍性贫血患者的糖皮质激素受体多态性图谱揭示了两个临床相关单核苷酸多态性与诊断时间之间的关联。
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Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.MECOM、TERT、JAK2以及HBS1L-MYB基因的变异易引发骨髓增殖性肿瘤。
Nat Commun. 2015 Apr 7;6:6691. doi: 10.1038/ncomms7691.
3
The role of glucocorticoid receptor (GR) polymorphisms in human erythropoiesis.糖皮质激素受体(GR)基因多态性在人类红细胞生成中的作用。
Am J Blood Res. 2014 Dec 15;4(2):53-72. eCollection 2014.
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An immune dysregulation in MPN.骨髓增殖性肿瘤中的免疫失调。
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A3669G polymorphism of glucocorticoid receptor is a susceptibility allele for primary myelofibrosis and contributes to phenotypic diversity and blast transformation.糖皮质激素受体 A3669G 多态性是原发性骨髓纤维化的易感等位基因,有助于表型多样性和原始细胞转化。
Blood. 2012 Oct 11;120(15):3112-7. doi: 10.1182/blood-2012-05-433466. Epub 2012 Aug 9.

本文引用的文献

1
The dominant negative β isoform of the glucocorticoid receptor is uniquely expressed in erythroid cells expanded from polycythemia vera patients.糖皮质激素受体的显性负效β异构体仅在从真性红细胞增多症患者扩增的红细胞中表达。
Blood. 2011 Jul 14;118(2):425-36. doi: 10.1182/blood-2010-07-296921. Epub 2011 Feb 25.
2
Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells.核糖体蛋白基因的杂合性缺失导致人类红系祖细胞中 p53 的选择性激活。
Blood. 2011 Mar 3;117(9):2567-76. doi: 10.1182/blood-2010-07-295238. Epub 2010 Nov 10.
3
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Diamond-Blackfan 贫血的核糖体基础:突变和数据库更新。
Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383.
4
Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups.种族和民族群体中 CYP2C9、VKORC1 和 CYP4F2 的联合频率。
Pharmacogenomics. 2010 Jun;11(6):781-91. doi: 10.2217/pgs.10.49.
5
Repression of TNF-alpha-induced IL-8 expression by the glucocorticoid receptor-beta involves inhibition of histone H4 acetylation.糖皮质激素受体-β对肿瘤坏死因子-α诱导的白细胞介素-8表达的抑制作用涉及对组蛋白H4乙酰化的抑制。
Exp Mol Med. 2009 May 31;41(5):297-306. doi: 10.3858/emm.2009.41.5.033.
6
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.
7
Interpretation of cytokine signaling through the transcription factors STAT5A and STAT5B.通过转录因子STAT5A和STAT5B对细胞因子信号传导的解读。
Genes Dev. 2008 Mar 15;22(6):711-21. doi: 10.1101/gad.1643908.
8
Diamond Blackfan anemia: a disorder of red blood cell development.先天性纯红细胞再生障碍性贫血:一种红细胞发育障碍性疾病。
Curr Top Dev Biol. 2008;82:217-41. doi: 10.1016/S0070-2153(07)00008-7.
9
Association of glucocorticoid receptor polymorphism A3669G in exon 9beta with reduced central adiposity in women.9β外显子中糖皮质激素受体基因多态性A3669G与女性中心性肥胖减少的关联。
Obesity (Silver Spring). 2006 May;14(5):759-64. doi: 10.1038/oby.2006.86.
10
The human glucocorticoid receptor: one gene, multiple proteins and diverse responses.人类糖皮质激素受体:一个基因,多种蛋白及多样反应。
Steroids. 2005 May-Jun;70(5-7):407-17. doi: 10.1016/j.steroids.2005.02.006.