一名非裔美国囊性纤维化患者，其纯合子状态下存在一种与CFTR mRNA水平降低相关的新型移码突变。 - Suppr

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超能文献

An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.

作者信息

Smit L S, Nasr S Z, Iannuzzi M C, Collins F S

机构信息

Department of Human Genetics, University of Michigan, Ann Arbor 48109.

出版信息

Hum Mutat. 1993;2(2):148-51. doi: 10.1002/humu.1380020217.

DOI:10.1002/humu.1380020217

PMID:7686423

Abstract

摘要

相似文献

An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.一名非裔美国囊性纤维化患者，其纯合子状态下存在一种与CFTR mRNA水平降低相关的新型移码突变。

Hum Mutat. 1993;2(2):148-51. doi: 10.1002/humu.1380020217.

A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.囊性纤维化基因中的一个32碱基对缺失（2991del32）与囊性纤维化跨膜传导调节因子（CFTR）信使核糖核酸（mRNA）减少相关。

Hum Mutat. 1994;4(1):65-70. doi: 10.1002/humu.1380040111.

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.对四个不同人群组的分析表明，一部分囊性纤维化突变在白种人中普遍存在。

Am J Hum Genet. 1992 Jun;50(6):1185-94.

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.携带无义突变R553X和W1316X的囊性纤维化跨膜传导调节因子信使核糖核酸在囊性纤维化患者呼吸道上皮细胞中的严重缺乏。

J Clin Invest. 1991 Dec;88(6):1880-5. doi: 10.1172/JCI115510.

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.囊性纤维化跨膜传导调节因子（CFTR）基因的两个新型移码突变：外显子6B中的977位插入A，以及外显子21中的4016位插入T。

Hum Mol Genet. 1993 Mar;2(3):317-9. doi: 10.1093/hmg/2.3.317.

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.囊性纤维化跨膜传导调节因子（CFTR）基因的一种丰富的可变剪接形式的表达与环磷酸腺苷（cAMP）激活的氯离子传导无关。

Hum Mol Genet. 1993 Mar;2(3):225-30. doi: 10.1093/hmg/2.3.225.

Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia.人上皮细胞中多药耐药P-糖蛋白（MDR1）的定量表达模式及囊性纤维化跨膜传导调节因子mRNA转录本的差异剪接

Eur J Biochem. 1992 May 15;206(1):137-49. doi: 10.1111/j.1432-1033.1992.tb16911.x.

Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient.

Hum Mol Genet. 1994 Nov;3(11):2063-4.

Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).在一名非裔美国人（CF444delA）、一名意大利人（CF2522insC）和一名苏联人（CF3821delT）中检测到囊性纤维化基因的三种罕见移码突变。

Genomics. 1991 May;10(1):266-9. doi: 10.1016/0888-7543(91)90510-l.

Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.囊性纤维化跨膜传导调节因子（CFTR）基因第19外显子移码突变的分子特征分析

Hum Mutat. 1993;2(5):422-4. doi: 10.1002/humu.1380020517.

引用本文的文献

A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.一个因BMPR1A基因存在两个连续无义突变而导致青少年息肉病的家族。

Cancer Genet Cytogenet. 2008 Feb;181(1):52-4. doi: 10.1016/j.cancergencyto.2007.11.001.

Nonsense-mediated decay of human HEXA mRNA.人类己糖胺酶A（HEXA）信使核糖核酸的无义介导衰变

Mol Cell Biol. 2001 Aug;21(16):5512-9. doi: 10.1128/MCB.21.16.5512-5519.2001.

Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.在患有囊性纤维化的非裔美国人中识别常见的囊性纤维化突变可将检测率提高到75%。

Am J Hum Genet. 1997 May;60(5):1122-7.

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.

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