β⁰地中海贫血中β珠蛋白链信使核糖核酸缺失。 - Suppr

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超能文献

Absence of messenger RNA for beta globin chain in beta(0) thalassaemia.

作者信息

Forget B G, Benz E J, Skoultchi A, Baglioni C, Housman D

出版信息

Nature. 1974 Feb 8;247(5440):379-81. doi: 10.1038/247379a0.

DOI:10.1038/247379a0

PMID:4817859

Abstract

摘要

相似文献

Absence of messenger RNA for beta globin chain in beta(0) thalassaemia.β⁰地中海贫血中β珠蛋白链信使核糖核酸缺失。

Nature. 1974 Feb 8;247(5440):379-81. doi: 10.1038/247379a0.

Characterization of beta-globin mRNA in the beta0 thalassemias.β⁰地中海贫血中β-珠蛋白mRNA的特征分析

Cell. 1978 Jun;14(2):289-98. doi: 10.1016/0092-8674(78)90115-0.

Direct demonstration of beta-globin mRNA in homozygous Ferrara betaO-thalassaemia patients.纯合子费拉拉β⁰-地中海贫血患者中β-珠蛋白mRNA的直接证明

Nature. 1977 Mar 17;266(5599):231-4. doi: 10.1038/266231a0.

Decreased beta globin mRNA activity in bone marrow cells in homozygous and heterozygous beta thalassaemia.纯合子和杂合子β地中海贫血患者骨髓细胞中β珠蛋白mRNA活性降低。

Nat New Biol. 1973 Aug 29;244(139):280-1. doi: 10.1038/newbio244280a0.

Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia.纯合子β（0）地中海贫血中无功能β-珠蛋白mRNA的证实。

Proc Natl Acad Sci U S A. 1975 Dec;72(12):5140-4. doi: 10.1073/pnas.72.12.5140.

[Molecular causes of thalassemia. I. Identification of globin mRNA in homozygous beta-thalassemia using complementary human globin DNA].[地中海贫血的分子病因。I. 使用互补的人珠蛋白DNA鉴定纯合β地中海贫血中的珠蛋白mRNA]

Mol Biol (Mosk). 1978 Jul-Aug;12(4):787-94.

beta 0 thalassemia, a nonsense mutation in man.β⁰地中海贫血，人类中的一种无义突变。

Proc Natl Acad Sci U S A. 1979 Jun;76(6):2886-9. doi: 10.1073/pnas.76.6.2886.

Absence of functional messenger RNA activity for beta globin chain synthesis in beta 0-thalassemia.β0地中海贫血中β珠蛋白链合成缺乏功能性信使核糖核酸活性。

Blood. 1975 Jan;45(1):1-10.

Absence of functional beta-globin messenger RNA in Kurdish Jews with beta0-thalassemia.β0-地中海贫血的库尔德犹太人中功能性β-珠蛋白信使核糖核酸缺失。

Isr J Med Sci. 1978 Nov;14(11):1116-23.

Effect of transferrin absence on in vitro globin chain synthesis in reticulocytes of beta-thalassemic patients.

Hemoglobin. 1983;7(4):313-20. doi: 10.3109/03630268309052712.

引用本文的文献

Nonsense-mediated decay in genetic disease: friend or foe?无意义介导的衰变在遗传疾病中的作用：是敌是友？

Mutat Res Rev Mutat Res. 2014 Oct-Dec;762:52-64. doi: 10.1016/j.mrrev.2014.05.001. Epub 2014 May 28.

Determination of mRNA fate by different RNA polymerase II promoters.不同RNA聚合酶II启动子对mRNA命运的决定作用。

Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):10091-5. doi: 10.1073/pnas.90.21.10091.

Nuclear degradation of nonsense mutated beta-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia?无义突变的β-珠蛋白mRNA的核降解：一种保护杂合子免受β地中海贫血严重临床表现影响的转录后机制？

Nucleic Acids Res. 1995 Feb 11;23(3):413-8. doi: 10.1093/nar/23.3.413.

The thalassemias: molecular mechanisms of human genetic disease.地中海贫血：人类遗传疾病的分子机制

Am J Hum Genet. 1983 May;35(3):333-61.

A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.人类β-珠蛋白基因剪接位点处的核苷酸变化与β0-地中海贫血相关。

Proc Natl Acad Sci U S A. 1981 Jul;78(7):4218-21. doi: 10.1073/pnas.78.7.4218.

The molecular basis of disorders of human hemoglobin synthesis.人类血红蛋白合成障碍的分子基础。

Mol Cell Biochem. 1980 Aug 16;31(3):133-45. doi: 10.1007/BF00225847.

beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].与一种新的β链结构变异体Hb Vicksburg [β75 (E19)Leu导致0]顺式存在的β地中海贫血。

Proc Natl Acad Sci U S A. 1981 Jan;78(1):469-73. doi: 10.1073/pnas.78.1.469.

Globin synthesis in fractionated Normoblasts of beta-thalassemia heterozygotes.β地中海贫血杂合子的分级成红细胞中的珠蛋白合成

J Clin Invest. 1975 Mar;55(3):567-78. doi: 10.1172/JCI107964.

Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia.纯合子β（0）地中海贫血中无功能β-珠蛋白mRNA的证实。

Proc Natl Acad Sci U S A. 1975 Dec;72(12):5140-4. doi: 10.1073/pnas.72.12.5140.

Further evidence of a quantitative deficiency of chain-specific globin mRNA in the thalassemia syndromes.地中海贫血综合征中特定链珠蛋白mRNA定量缺乏的进一步证据。

Proc Natl Acad Sci U S A. 1975 Feb;72(2):567-71. doi: 10.1073/pnas.72.2.567.

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