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Investigating monogenic and complex diseases with pluripotent stem cells

drjiangbo 添加于 2011-12-15 00:10 | 1310 次阅读 | 0 个评论

作者
Zhu H, Lensch MW, Cahan P, Daley GQ
摘要
Human genetic studies have revealed the molecular basis of countless monogenic diseases but have been less successful in associating phenotype to genotype in complex multigenic conditions. Pluripotent stem cells (PSCs), which can differentiate into any cell type, offer promise for defining the functional effects of genetic variation. Here, we recount the advantages and practical limitations of coupling PSCs to genome-wide analyses to probe complex genetics and discuss the ability to investigate epigenetic contributions to disease states. We also describe new ways of using mice and mouse embryonic stem cells (ESCs) in tandem with human stem cells to further define genotype-phenotype relationships.
详细资料
- 文献种类:期刊
- 期刊名称: Nature Reviews. Genetics
- 期刊缩写: Nat Rev Genet
- 期卷页: 2011年第12卷第4期 266-275页
- 地址: Division of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA
- ISBN: 1471-0056
- 备注:PMID:21386866
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附件
Investigating monogenic and complex diseases with pluripotent stem cells
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