Defects in RNA splicing and the consequence of shortened translational reading frames.
作者信息
Maquat L E
出版信息
Am J Hum Genet. 1996 Aug;59(2):279-86.
Abstract
摘要
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Defects in RNA splicing and the consequence of shortened translational reading frames.RNA剪接缺陷以及翻译阅读框缩短的后果。
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本文引用的文献
1
2
Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis.无义突变在无细胞系统中抑制RNA剪接：突变密码子的识别独立于蛋白质合成。
Cell. 1996 May 3;85(3):415-22. doi: 10.1016/s0092-8674(00)81119-8.
3
Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.COL1A1信使核糖核酸的核滞留鉴定出导致轻度成骨不全的无效等位基因。
J Clin Invest. 1996 Feb 15;97(4):1035-40. doi: 10.1172/JCI118495.
4
A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome.一种类人RNA解旋酶蛋白HRH1，通过从剪接体释放RNA来促进剪接后mRNA的核输出。
Genes Dev. 1996 Apr 15;10(8):997-1007. doi: 10.1101/gad.10.8.997.
5
6
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.三种新的腺苷脱氨酶突变定义了一个剪接增强子并导致严重和部分表型：对CpG热点进化和转导的ADA cDNA表达的影响
Hum Mol Genet. 1995 Nov;4(11):2081-7. doi: 10.1093/hmg/4.11.2081.
7
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.马凡综合征及相关疾病中人类原纤蛋白-1（FBN1）基因的突变。
Hum Mol Genet. 1995;4 Spec No:1799-809. doi: 10.1093/hmg/4.suppl_1.1799.
8
Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.对28例甲型血友病患者的凝血因子VIII信使核糖核酸的分析显示，每例患者均存在缺陷。
Hum Mol Genet. 1993 Jan;2(1):11-7. doi: 10.1093/hmg/2.1.11.
9
Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.无义密码子可降低核mRNA的丰度，而不影响前体mRNA的丰度或细胞质mRNA的半衰期。
Mol Cell Biol. 1993 Mar;13(3):1892-902. doi: 10.1128/mcb.13.3.1892-1902.1993.
10
T cell receptor-beta mRNA splicing: regulation of unusual splicing intermediates.T细胞受体β mRNA剪接：异常剪接中间体的调控
Mol Cell Biol. 1993 Mar;13(3):1686-96. doi: 10.1128/mcb.13.3.1686-1696.1993.
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