遗传学。神秘的核糖体病。
Genetics. Mysterious ribosomopathies.
机构信息
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
出版信息
Science. 2013 Aug 23;341(6148):849-50. doi: 10.1126/science.1244156.
Abstract
Ribosomes are essential in all cell types, yet mutations to ribosomal proteins or assembly factors cause tissue-specific disease.
摘要
核糖体在所有细胞类型中都是必不可少的，但核糖体蛋白或装配因子的突变会导致组织特异性疾病。
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PLoS Genet. 2012;8(8):e1002892. doi: 10.1371/journal.pgen.1002892. Epub 2012 Aug 16.
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Development. 2012 Sep;139(17):3232-41. doi: 10.1242/dev.077107.
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Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning.核糖体介导的 Hox mRNA 翻译特异性与脊椎动物组织模式形成。
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Semin Hematol. 2011 Apr;48(2):136-43. doi: 10.1053/j.seminhematol.2011.01.002.
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Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.核糖体突变导致p53介导的黑皮肤和多效性效应。
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