Human hair abnormalities resulting from inherited desmosome gene mutations
スポンサーリンク
概要
- 論文の詳細を見る
Over the last eight years, several naturally occurring human gene mutations in structural components of desmosomes, cell-cell adhesion junctions found in skin, heart and meninges, have been reported. These comprise dominant or recessive mutations in plakophilin 1, plakophilin 2, desmoplakin, desmoglein 1, desmoglein 4, plakoglobin and corneodesmosin. Of note, as well as compromising tissue integrity, many of the resulting phenotypes have been associated with visible changes in hair. This article describes the particular hair abnormalities resulting from these desmosome gene mutations. Collectively, the data demonstrate the surprising effects inherited desmosome gene/protein pathology may have on hair growth and development. Further analysis of these and other desmosome genes is likely to resolve more hair disease mysteries and provides several further intriguing new discoveries in years to come.
- The Keio Journal of Medicineの論文
- 2005-06-01
著者
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MCGRATH John
Genetic Skin Disease Group, St. John's Institute of Dermatology, Division of Genetics and Molecular
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Mcgrath John
Genetic Skin Disease Group And The Robin Eady National Diagnostic Epidermolysis Bullosa Research Lab
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Mcgrath John
Genetic Skin Disease Group St John's Institute Of Dermatology The Guy's King's Colleg
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WESSAGOWIT Vesarat
Genetic Skin Disease Group and The Robin Eady National Diagnostic Epidermolysis Bullosa Research Lab
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Wessagowit Vesarat
Genetic Skin Disease Group St John's Institute Of Dermatology The Guy's King's Colleg
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