Gene analysis of epidermal gap junction and pathological search for palmoplantar hyperkeratosis associated with hearing impairments

表皮间隙连接基因分析及听力障碍相关掌跖角化过度的病理学研究

• 批准号: 23659542
• 负责人: KAMBE Naotomo
• 金额: $ 2.5万
• 依托单位: Chiba University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Challenging Exploratory Research
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 无数据
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23659542/
• 关键词: 皮膚病理学; 角化症; 皮膚科学; 遺伝子; Gap junction; コネキシン

We have experienced a mother and her son suffering from palmoplantar hyperkeratosis with hearing impairments and also some unrelated patients. Even though they showed clinical symptoms identified to be almost same as the reported cases with mutations within mitochondria DNA or Connexin (Cx) genes coding of gap junctions, we cannot found any mutations in those reported genes. In conventional 2D culture condition of keratinocytes, no significant differences were observed between patient- derived and control cells in proliferation and differentiation. Even in 3D culture system, any impairments in patient- derived cells and significant difference in Cx gene expression were not observed.

我们曾经历过一位母亲和她的儿子患有掌跖角化过度伴听力障碍，也有一些无关的病人。尽管他们的临床症状与报道的线粒体DNA或编码间隙连接的连接蛋白（Cx）基因突变的病例几乎相同，但我们在这些报道的基因中没有发现任何突变。在常规的角质形成细胞二维培养条件下，患者来源的细胞和对照细胞在增殖和分化方面没有观察到显著差异。即使在3D培养系统中，也未观察到患者来源的细胞的任何损伤和Cx基因表达的显著差异。

项目成果

限局性掌蹠角化症の1例

局灶性掌跖角化症一例

• 发表时间: 2011
• 作者: 林郁伶;神戸直智;田島綾子;松江弘之;高橋健造
• 通讯作者: 高橋健造

Follicular keratosis and bullous formation are typical signs of extragenital lichen sclerosis

毛囊角化和大疱形成是生殖器外苔藓硬化的典型症状

• 发表时间: 2011
• 期刊: J Dermatol
• 影响因子: 3.1
• 作者: Kimura A;Kambe N;Satoh T;Togawa Y;Suehiro K;Matsue H
• 通讯作者: Matsue H