Ribosomal dysfunction and inherited marrow failure
Ribosomal dysfunction and inherited marrow failure
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DOI：
10.1111/j.1365-2141.2008.07095.x
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发表时间：
2008-05-01
影响因子：
6.5
通讯作者：
Shimamura, Akiko
中科院分区：
文献类型：
--
作者：
Ganapathi, Karthik A.;Shimamura, Akiko
核糖体生物合成或功能受损是几种遗传性骨髓衰竭综合征的特征：戴蒙德-布莱克凡贫血、先天性角化不良 (DC)、施瓦赫曼-戴蒙德综合征和软骨毛发发育不全。这些综合征表现出重叠但不同的临床表型，每种疾病都涉及核糖体生物发生的不同方面。简要回顾了每种综合征的临床特征。讨论了每种综合征中核糖体生物发生和功能的分子研究。探索核糖体途径损伤如何影响造血和肿瘤发生的模型。
Impairment of ribosome biogenesis or function characterizes several of the inherited bone marrow failure syndromes: Diamond-Blackfan anaemia, dyskeratosis congenita (DC), Shwachman-Diamond syndrome and cartilage-hair hypoplasia. These syndromes exhibit overlapping but distinct clinical phenotypes and each disorder involves different aspects of ribosomal biogenesis. The clinical characteristics of each syndrome are briefly reviewed. Molecular studies of ribosome biogenesis and function in each of these syndromes are discussed. Models of how impairment of ribosomal pathways might affect haematopoiesis and tumorigenesis are explored.