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Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

机译：黎巴嫩家庭中ATP2C1几个突变的鉴定：对Hailey-Hailey病发病机理的认识

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BackgroundHailey-Hailey disease (HHD) is an inherited blistering dermatosis characterized by recurrent erosions and erythematous plaques that generally manifest in intertriginous areas. Genetically, HHD is an autosomal dominant disease, resulting from heterozygous mutations in ATP2C1, which encodes a Ca²⁺/Mn²⁺ATPase. In this study, we aimed at identifying and analyzing mutations in five patients from unrelated families diagnosed with HHD and study the underlying molecular pathogenesis.

机译：背景：Hailey-Hailey病（HHD）是一种遗传性起泡性皮肤病，其特征是复发性糜烂和红斑通常出现在三叉部地区。从遗传学上讲，HHD是一种常染色体显性疾病，是由ATP2C1的杂合突变引起的，该突变编码Ca ^{2 + / Mn ^{2 + ATPase。在这项研究中，我们旨在鉴定和分析来自HHD无关家族的五名患者的突变，并研究潜在的分子发病机理。}}

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期刊名称 other
作者
Waed Btadini; Ossama K. Abou Hassan; Dana Saadeh; Ossama Abbas; Farah Ballout; Abdul-Ghani Kibbi; Ghassan Dbaibo; Nadine Darwiche; Georges Nemer; Mazen Kurban;
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年(卷),期 -1(10),2
年度 -1
页码 e0115530
总页数 11
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专利

1. Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease [J] . Xing X. -S., Wang Z., Liu S., Journal of the European Academy of Dermatology and Venereology: JEADV . 2016,第6期

机译：Hailey-Hailey病中国家庭中的ATP2C1基因的三个新突变
2. Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. [J] . Zhang F, Yan X, Jiang D, Dermatology: international journal for clinical and investigative dermatology . 2007,第4期

机译：在17个患有Hailey-Hailey病的中国家庭中发现了ATP2C1的8个新突变。
3. Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. [J] . Zhu YG, Yang S, Gao M, Journal of dermatological science . 2006,第2期

机译：Hailey-Hailey病中国家庭中ATP2C1基因的两个新突变。
4. Insights into the pathogenesis of Paget's disease [C] . G. David Roodman Conference on Skeletal Biology and Medicine . 2010

机译：洞察Paget病的发病机制
5. Extending Mendelian mutation prediction models that predict if one has a disease-causing mutation based on family history of disease. [D] . Katki, Hormuzd A. 2006

机译：扩展孟德尔突变预测模型，该模型可根据疾病家族史预测是否存在致病突变。
6. Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease [O] . Xiaoli Li, Dingwei Zhang, Jiahui Ding, 2020

机译：Hailey-Hailey病患者中ATP2C1突变的鉴定
7. Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease. [O] . Waed Btadini, Ossama K Abou Hassan, Dana Saadeh, 2015

机译：鉴定黎巴嫩家庭中aTp2C1的几个突变：洞察Hailey-Hailey病的发病机制。

Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

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