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有丝分裂失败和减弱:范可尼贫血的新发现。

Cytokinesis failure and attenuation: new findings in Fanconi anemia.

机构信息

Division of Hematology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4318, USA.

出版信息

J Clin Invest. 2011 Jan;121(1):27-30. doi: 10.1172/JCI45619. Epub 2010 Dec 22.

Abstract

The hallmarks of the rare inherited disorder Fanconi anemia (FA) are progressive bone marrow failure and susceptibility to cancer. The former is the major cause of death for patients with FA, as it usually occurs earlier in life than cancer development. Despite spectacular advances in unraveling the molecular details of FA, the origin of the bone marrow failure that is central to this condition for most patients has long been puzzling and controversial. Two studies recently published in the JCI, including one in this issue, will add to the debate. They also highlight the fact that studying rare disorders can elucidate important new clinical and biological principles.

摘要

罕见遗传性疾病范可尼贫血(FA)的特征是进行性骨髓衰竭和癌症易感性。前者是 FA 患者死亡的主要原因,因为它通常比癌症发生更早。尽管在揭示 FA 的分子细节方面取得了巨大进展,但导致大多数患者出现这种情况的骨髓衰竭的起源长期以来一直令人费解且存在争议。最近在 JCI 上发表的两项研究,包括本期的一项研究,将为这一争论增添新内容。它们还突出表明,研究罕见疾病可以阐明重要的新临床和生物学原则。

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