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学科主题: 临床医学
题名:
Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type
作者: Wang, Wen-hui1; Song, Shu-juan2; Li, Lin-feng1; Zhang, Long3; Yang, Shao-min4; Zhang, Qian1; Wang, Yu-ying1; Sun, Ting-ting1
关键词: gene ; keratin ; ichthyosis hystrix ; immunohistochemistry ; Lambert type
刊名: EUROPEAN JOURNAL OF DERMATOLOGY
发表日期: 2010-09-01
DOI: 10.1684/ejd.2010.1015
卷: 20, 期:5, 页:567-572
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dermatology
研究领域[WOS]: Dermatology
关键词[WOS]: CURTH-MACKLIN ; PALMOPLANTAR KERATODERMA ; SIZE POLYMORPHISM ; WOOLLY HAIR ; MUTATION ; SIEMENS ; BULLOSA ; DOMAIN ; FAMILY ; 2E
英文摘要:

We have previously reported the second familial ichthyosis hystrix strongly resembling Lambert type in clinical features, now this family has expanded to three generations, including three patients and five unaffected individuals. The purpose of this study was to investigate the molecular basis of this family. Paraffin-embedded skin sections were stained using keratin 1 (K1), K2, K10, K5+14 and loricrin antibodies. Genomic DNA isolated from blood samples was used to carry out a polymerase-chain-reaction. Immunohistochemistry showed that the distributions, but not the densities of K1/K2/K10 were dramatically changed in the patients. Unlike normal expression of K1/K10 from suprabasal layers and K2 from upper spinous layers, K1/K10 was expressed later from upper spinous layers and K2 was expressed earlier from basal layers; and they were densely aggregated around the nucleus rather than the normal regular distribution in the cytoplasm. DNA sequencing did not reveal any pathogenic mutations in candidate genes (KRT1, KRT2, KRT10 and plakoglobin) in keratin gene clusters. Linkage analysis also excluded the possibility of causative mutations in the epidermal differentiation complex on 1q, desmoplakin gene on 6p and desmosomal cadherin gene cluster on 18q regions. Other genes encoding proteins interacting with keratins might be pathogenic in this rare disease and should be studied further.

语种: 英语
所属项目编号: 30700721
项目资助者: National Natural Science Foundation of China ; Ministry of Education, China
WOS记录号: WOS:000281769600004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63406
Appears in Collections:北京大学第三临床医学院_皮肤科_期刊论文

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作者单位: 1.Peking Univ, Dept Dermatol, Hosp 3, Beijing 100191, Peoples R China
2.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100191, Peoples R China
3.Peking Univ, Dept Intervent Radiol & Vasc Surg, Hosp 3, Beijing 100191, Peoples R China
4.Peking Univ, Hlth Sci Ctr, Dept Pathol, Beijing 100191, Peoples R China

Recommended Citation:
Wang, Wen-hui,Song, Shu-juan,Li, Lin-feng,et al. Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type[J]. EUROPEAN JOURNAL OF DERMATOLOGY,2010,20(5):567-572.
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