Molecular pathogenesis and clinical management of Fanconi anemia

被引：185

作者：

Kee, Younghoon ^{[1
]}

D'Andrea, Alan D. ^{[2
]}

机构：

[1] Univ S Florida, Dept Cell Biol Microbiol & Mol Biol, Tampa, FL 33620 USA

[2] Harvard Univ, Sch Med, Dana Farber Canc Inst, Dept Radiat Oncol & Pediat, Boston, MA 02115 USA

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2012年 / 122卷 / 11期

关键词：

CROSS-LINK REPAIR; HEMATOPOIETIC-CELL TRANSPLANTATION; DAMAGE RESPONSE PATHWAY; PLURIPOTENT STEM-CELLS; ACUTE MYELOID-LEUKEMIA; NATURAL GENE-THERAPY; CORE-COMPLEX PROTEIN; DNA-REPAIR; MONOUBIQUITINATED FANCD2; HOMOLOGOUS RECOMBINATION;

D O I：

10.1172/JCI58321

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of hematological abnormalities and congenital anomalies. Based on multilateral efforts from basic scientists and clinicians, significant advances in our knowledge of FA have been made in recent years. Here we review the clinical features, the diagnostic criteria, and the current and future therapies of FA and describe the current understanding of the molecular basis of the disease.

引用

页码：3799 / 3806

页数：8

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