Gene analysis of epidermal gap junction and pathological search for palmoplantar hyperkeratosis associated with hearing impairments
Project/Area Number |
23659542
|
Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
Allocation Type | Multi-year Fund |
Research Field |
Dermatology
|
Research Institution | Chiba University |
Principal Investigator |
KAMBE Naotomo 千葉大学, 大学院・医学研究院, 准教授 (50335254)
|
Co-Investigator(Kenkyū-buntansha) |
MATSUE Hiroyuki 千葉大学, 大学院・医学研究院, 教授 (10250424)
|
Co-Investigator(Renkei-kenkyūsha) |
KAMADA Noriaki 千葉大学, 大学院・医学研究院, 講師 (00334186)
|
Project Period (FY) |
2011
|
Project Status |
Completed (Fiscal Year 2011)
|
Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2011: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
|
Keywords | 皮膚病理学 / 角化症 / 皮膚科学 / 遺伝子 / Gap junction / コネキシン |
Research Abstract |
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.
|
Report
(2 results)
Research Products
(4 results)
-
-
-
-
[Presentation] 限局性掌蹠角化症の1例2011
Author(s)
林郁伶, 神戸直智, 田島綾子, 松江弘之, 高橋健造
Organizer
第26回角化症研究会
Place of Presentation
東京
Year and Date
2011-07-30
Related Report