两名患有囊性纤维化的患者，每个囊性纤维化基因都存在无义突变，且患有轻度肺部疾病。 - Suppr

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超能文献

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

作者信息

Cutting G R, Kasch L M, Rosenstein B J, Tsui L C, Kazazian H H, Antonarakis S E

机构信息

Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.

出版信息

N Engl J Med. 1990 Dec 13;323(24):1685-9. doi: 10.1056/NEJM199012133232407.

DOI:10.1056/NEJM199012133232407

PMID:2233965

Abstract

摘要

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Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.两名患有囊性纤维化的患者，每个囊性纤维化基因都存在无义突变，且患有轻度肺部疾病。

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A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.患有肺部疾病但汗液氯化物浓度正常的患者中囊性纤维化基因的一种新突变。

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Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.囊性纤维化跨膜传导调节因子基因的无义突变R1162X不会降低鼻上皮组织中的信使核糖核酸表达。

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A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.囊性纤维化跨膜传导调节因子基因中的一个新外显子，由囊性纤维化患者气道上皮细胞中的无义突变E92X激活。

J Clin Invest. 1994 Apr;93(4):1852-9. doi: 10.1172/JCI117172.

Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.采用定向优化的单链构象多态性（SSCP）策略对成年囊性纤维化患者进行CF基因突变筛查。

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Association of common haplotypes of surfactant protein A1 and A2 (SFTPA1 and SFTPA2) genes with severity of lung disease in cystic fibrosis.表面活性蛋白A1和A2（SFTPA1和SFTPA2）基因的常见单倍型与囊性纤维化肺部疾病严重程度的关联。

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Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.在囊性纤维化跨膜传导调节因子（CFTR）基因中鉴定出六种突变（R31L、441delA、681delC、1461ins4、W1089R、E1104X）。

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Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.患有R347P突变的德国和斯拉夫囊性纤维化患者的胰腺功能不全和肺部疾病

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Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

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Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report.囊性纤维化中肺部疾病与囊性纤维化跨膜传导调节因子功能障碍之间缺乏相关性：一例报告

J Med Case Rep. 2010 Apr 26;4:117. doi: 10.1186/1752-1947-4-117.

Cystic fibrosis with homozygous R553X mutation in a Taiwanese child.一名台湾儿童患有纯合子R553X突变的囊性纤维化。

J Hum Genet. 2005;50(12):674-8. doi: 10.1007/s10038-005-0309-x. Epub 2005 Nov 10.

Suppression of nonsense mutations in cell culture and mice by multimerized suppressor tRNA genes.多聚化抑制性tRNA基因对细胞培养物和小鼠中无义突变的抑制作用。

Mol Cell Biol. 2000 May;20(9):3116-24. doi: 10.1128/MCB.20.9.3116-3124.2000.

Airway epithelial CFTR mRNA expression in cystic fibrosis patients after repetitive administration of a recombinant adenovirus.重复给予重组腺病毒后囊性纤维化患者气道上皮CFTR mRNA表达情况

J Clin Invest. 1999 Nov;104(9):1245-55. doi: 10.1172/JCI7935.

Cystic fibrosis carrier frequencies in populations of African origin.非洲裔人群中囊性纤维化携带者的频率。

J Med Genet. 1999 Jan;36(1):41-4.

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.P67L：一种在苏格兰人群中高频发现的、具有轻度效应的囊性纤维化等位基因。

J Med Genet. 1998 Feb;35(2):122-5. doi: 10.1136/jmg.35.2.122.

Recent advances in cystic fibrosis research.囊性纤维化研究的最新进展。

J R Soc Med. 1993;86 Suppl 20(Suppl 20):7-10.

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

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Cystic fibrosis-related diabetes is associated with HLA DQB1 alleles encoding Asp-57- molecules.囊性纤维化相关糖尿病与编码天冬氨酸-57-分子的HLA DQB1等位基因相关。

J Clin Immunol. 1994 Nov;14(6):353-8. doi: 10.1007/BF01546319.

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