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即将揭开I型和II型先天性红细胞生成异常性贫血的秘密。

Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II.

作者信息

Iolascon Achille, Delaunay Jean

出版信息

Haematologica. 2009 May;94(5):599-602. doi: 10.3324/haematol.2009.005785.

DOI:10.3324/haematol.2009.005785
PMID:19407313
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2675668/
Abstract

The congenital dyserythropoietic anemias are rare recessive disorders characterized by erythroblast multinuclearity, ineffective erythropoiesis, anemia and iron overload. In this perspective article, Drs. Iolascon and Delaunay examine genetic and clinical aspects of these inherited disorders.

摘要

先天性红细胞生成异常性贫血是罕见的隐性疾病,其特征为成红细胞多核、无效红细胞生成、贫血和铁过载。在这篇观点文章中,约拉斯孔博士和德洛奈博士探讨了这些遗传性疾病的遗传学和临床方面。

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本文引用的文献

1
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.科达宁-1(Codanin-1)是由I型先天性红细胞生成异常性贫血(CDAN1)中发生突变的基因所编码的蛋白质,其受细胞周期调控。
Haematologica. 2009 May;94(5):629-37. doi: 10.3324/haematol.2008.003327. Epub 2009 Mar 31.
2
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.I型先天性红细胞生成异常性贫血患者中生长分化因子15表达升高。
Blood. 2008 Dec 15;112(13):5241-4. doi: 10.1182/blood-2008-06-165738. Epub 2008 Sep 29.
3
Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).一名患有视网膜血管样条纹的白种人患者(编码蛋白1存在纯合子Arg1042Trp突变)的I型先天性红细胞生成异常性贫血。
Eur J Haematol. 2008 Mar;80(3):271-4. doi: 10.1111/j.1600-0609.2007.01004.x. Epub 2007 Dec 7.
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Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene.在两个患有不同疾病基因染色体定位的II型先天性红细胞生成异常性贫血家族中,红细胞糖缀合物异常情况相同。
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Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1.人类患者的II型先天性红细胞生成异常性贫血并非由红细胞阴离子交换蛋白1的突变所致。
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CATSPER2, a human autosomal nonsyndromic male infertility gene.CATSPER2,一种人类常染色体非综合征性男性不育基因。
Eur J Hum Genet. 2003 Jul;11(7):497-502. doi: 10.1038/sj.ejhg.5200991.