A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family.

Deng W; Yuan P; Lai W; Chen M; Wang Y; Dai S

首页> 外文期刊>Journal of dermatological science >A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family.

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A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family.

机译：一种新的KRT5突变p.Lys199Asn与单个中国家庭的三种表皮松解性大疱性表型亚型有关。

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Epidermolysis bullosa simplex (EBS) is a group of heterogeneous, inherited skin disorders characterized by increased skin fragility causing non-scarring blistering. Mutations in keratin 5 {KRT5, Entrez Gene ID: 3852) and keratin 14 (KRT14, Entrez Gene ID: 3861), which encode epidermal basal cell keratin 5 (K5) and keratin 14 (K14) proteins, respectively, cause most EBS cases [1,2]. The pathogenesis of the disorder is believed to be related to mutated proteins encoded by the genes that disrupt the keratin intermediate filament network, resulting in skin fragility and blister formation [3].

机译：大疱表皮松解症（EBS）是一组异质性，遗传性皮肤病，其特征是皮肤脆弱性增加，引起无疤痕的水疱。分别编码表皮基底细胞角蛋白5（K5）和角蛋白14（K14）蛋白的角蛋白5（KRT5，Entrez基因ID：3852）和角蛋白14（KRT14，Entrez基因ID：3861）中的突变引起大多数EBS病例[1,2]。据信这种疾病的发病机制与破坏角蛋白中间丝网络的基因编码的突变蛋白有关，导致皮肤脆弱和水疱形成[3]。

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《Journal of dermatological science》 |2011年第3期|共3页
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Deng W; Yuan P; Lai W; Chen M; Wang Y; Dai S;
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中图分类皮肤病学与性病学;
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1. A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family. [J] . Deng W, Yuan P, Lai W, Journal of dermatological science . 2011,第3期

机译：一种新的KRT5突变p.Lys199Asn与单个中国家庭的三种表皮松解性大疱性表型亚型有关。
2. Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation [J] . Wertheim-Tysarowska K., Odak M., Giza A., Journal of Applied Genetics . 2016,第2期

机译：波兰表皮松解性大疱性单纯疱疹患者KRT5和KRT14基因的新型偶发和复发突变：流行病学和基因型-表型相关性的进一步见解。
3. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype [J] . M.J. Arin, G. Grimberg, H. Schumann, British Journal of Dermatology . 2010,第6期

机译：鉴定53例单纯性表皮松解患者新的已知KRT5和KRT14突变：基因型与表型之间的相关性
4. Multiscale Computational Analysis of the Effect on Heart Rate of a HCN4 Gene Double Mutation: From the Single Channel to the Clinical Phenotype [C] . Eugenio Ricci, Alan Fabbri, Teun P de Boer, Computing in Cardiology . 2020

机译：多尺度计算分析HCN4基因双突变心率的影响：从单通道到临床表型
5. An incompletely penetrant COL7A1 mutation causes dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa. [D] . Yang, Catherine. 2012

机译：渗透性不完全的COL7A1突变会导致营养不良性大疱性表皮松解和大疱性表皮松解。
6. Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation [O] . K. Wertheim-Tysarowska, M. Ołdak, A. Giza, -1

机译：波兰表皮松解性单纯疱疹患者KRT5和KRT14基因的新型偶发和复发突变：对流行病学和基因型-表型相关性的进一步了解
7. Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis [O] . Pfendner Ellen G., Sadowski Sara G., Uitto Jouni 2005

机译：表皮松解性大疱性单纯疱疹：KRT5和KRT14基因的复发和从头突变，表型/基因型相关性，以及遗传咨询和产前诊断的意义。

A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family.

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