VII型胶原蛋白基因（COL7A1）中的提前终止密码子突变是严重隐性营养不良型大疱性表皮松解症的病因。 - Suppr

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超能文献

Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.

作者信息

Uitto J, Hovnanian A, Christiano A M

机构信息

Department of Dermatology, Jefferson Medical College, Philadelphia, PA 19107, USA.

出版信息

Proc Assoc Am Physicians. 1995 Jul;107(2):245-52.

PMID:8624860

Abstract

摘要

相似文献

Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.VII型胶原蛋白基因（COL7A1）中的提前终止密码子突变是严重隐性营养不良型大疱性表皮松解症的病因。

Proc Assoc Am Physicians. 1995 Jul;107(2):245-52.

Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.隐性营养不良性大疱性表皮松解症中VII型胶原蛋白基因（COL7A1）的无义突变和剪接位点突变的复合杂合性。

Lab Invest. 1997 Feb;76(2):209-17.

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.VII型胶原蛋白基因（COL7A1）中的提前终止密码子是严重致残性隐性营养不良型大疱性表皮松解症的病因。

Genomics. 1994 May 1;21(1):160-8. doi: 10.1006/geno.1994.1238.

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.隐性营养不良型大疱性表皮松解症患者VII型胶原蛋白基因中的三个纯合PTC突变：真皮成纤维细胞中转录水平的分析

Hum Mutat. 1999;13(6):439-52. doi: 10.1002/(SICI)1098-1004(1999)13:6<439::AID-HUMU3>3.0.CO;2-N.

Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.隐性营养不良性大疱性表皮松解症：非Hallopeau-Siemens变异型且两个等位基因均有过早终止密码子的病例。

J Dermatol. 2006 Nov;33(11):802-5. doi: 10.1111/j.1346-8138.2006.00182.x.

A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.在一名隐性营养不良性大疱性表皮松解症患者中，VII型胶原蛋白基因（COL7A1）启动子发生A -96C→T突变，导致转录终止。

Hum Mutat. 2000 Sep;16(3):275. doi: 10.1002/1098-1004(200009)16:3<275::AID-HUMU22>3.0.CO;2-9.

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).营养不良性大疱性表皮松解症的分子基础：VII型胶原蛋白基因（COL7A1）的突变

Hum Mutat. 1997;10(5):338-47. doi: 10.1002/(SICI)1098-1004(1997)10:5<338::AID-HUMU2>3.0.CO;2-B.

[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family].

Zhonghua Yi Xue Za Zhi. 2000 Nov;80(11):869-71.

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.对澳大利亚营养不良性大疱性表皮松解症患者中发现的胶原蛋白VII序列变异的回顾揭示了9种新的COL7A1变异。

J Dermatol Sci. 2007 Jun;46(3):169-78. doi: 10.1016/j.jdermsci.2007.02.006. Epub 2007 Apr 10.

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.营养不良性大疱性表皮松解症中COL7A1突变的突变分析与特征描述

Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x.

引用本文的文献

Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient.VII型胶原蛋白基因突变（c.8569G>T和c.4879G>A）在一名韩国患者中导致了隐性营养不良性大疱性表皮松解症的中度严重表型。

J Korean Med Sci. 2009 Apr;24(2):256-61. doi: 10.3346/jkms.2009.24.2.256. Epub 2009 Apr 20.

Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.注射重组人VII型胶原蛋白可纠正营养不良性大疱性表皮松解症小鼠模型的疾病表型。

Mol Ther. 2009 Jan;17(1):26-33. doi: 10.1038/mt.2008.234. Epub 2008 Nov 18.

Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.利用定点诱变技术对营养不良性大疱性表皮松解症突变潜在分子机制的表征。

J Biol Chem. 2008 Jun 27;283(26):17838-45. doi: 10.1074/jbc.M709452200. Epub 2008 Apr 30.

Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications.反义介导的外显子跳跃：一种具有治疗和研究应用的通用工具。

RNA. 2007 Oct;13(10):1609-24. doi: 10.1261/rna.653607. Epub 2007 Aug 7.

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.对20个大疱性表皮松解症营养不良型日本家庭的基因研究。

J Hum Genet. 2005;50(10):543-546. doi: 10.1007/s10038-005-0290-4. Epub 2005 Sep 28.

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.隐性营养不良性大疱性表皮松解症中COL7A1基因18个新突变的特征分析为锚定原纤维形成缺陷的不同分子机制提供了证据。

Am J Hum Genet. 1997 Sep;61(3):599-610. doi: 10.1086/515495.

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.人类 XVII 型胶原蛋白基因（COL17A1）的克隆以及泛发性萎缩性良性大疱性表皮松解症新突变的检测。

Am J Hum Genet. 1997 Feb;60(2):352-65.

Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.营养不良性大疱性表皮松解症双胞胎中COL7A1突变的复合杂合性：一个隐性父系缺失/插入突变和一个显性负性母系甘氨酸替代导致严重表型。

Am J Hum Genet. 1996 Apr;58(4):682-93.

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