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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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2
RNA events. No end to nonsense.RNA事件。无意义之事无穷无尽。
Science. 2002 Oct 11;298(5592):370-1. doi: 10.1126/science.1078096.
3
Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay.无义相关的可变剪接：一种不同于无义介导衰变的框架依赖性反应。
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4
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。
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5
Intron function in the nonsense-mediated decay of beta-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm.内含子在β-珠蛋白mRNA无义介导衰变中的作用：表明细胞核中的前体mRNA剪接可影响细胞质中的mRNA翻译。
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6
When the message goes awry: disease-producing mutations that influence mRNA content and performance.当信息出错时：影响mRNA含量和功能的致病突变
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A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.富马酰乙酰乙酸水解酶基因的一种次要可变转录本尽管可能会经历无义介导的mRNA降解，但仍会产生一种蛋白质。
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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.无义介导的mRNA降解：剪接、翻译与mRNA核糖核蛋白动态变化
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Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human protein.由人类蛋白质特有的29个氨基酸插入区域中的新型经典剪接变体引起的急性间歇性卟啉症的遗传分析。
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Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.EVC/EVC2基因和TMC1基因的序列变异导致了埃-范二氏综合征和重度耳聋。
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9
Activity and expression of ADP-glucose pyrophosphorylase during rhizome formation in lotus (Nelumbo nucifera Gaertn.).莲藕（Nelumbo nucifera Gaertn.）根状茎形成过程中ADP-葡萄糖焦磷酸化酶的活性与表达
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10
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.对来自哥伦比亚、厄瓜多尔和秘鲁的黏多糖贮积症I型患者的α-L-艾杜糖醛酸酶基因和蛋白质进行基因分型和生物信息学评估。
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本文引用的文献

1
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.在一名患有隐性营养不良性大疱性表皮松解症局限性变型患者的Ⅶ型胶原蛋白基因（COL7A1）中鉴定出两个剪接突变。
Am J Hum Genet. 1996 Aug;59(2):292-300.
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
Evidence that the decay of nucleus-associated nonsense mRNA for human triosephosphate isomerase involves nonsense codon recognition after splicing.关于人类磷酸丙糖异构酶的细胞核相关无义mRNA的衰变涉及剪接后无义密码子识别的证据。
RNA. 1996 Mar;2(3):235-43.
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.

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.

PMID:8755945
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1914736/
Abstract
摘要