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Revertant mosaicism in genodermatoses.
Lim, Young H; Fisher, Jonathan M; Choate, Keith A.
Affiliation
  • Lim YH; Department of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA.
  • Fisher JM; Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
  • Choate KA; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Cell Mol Life Sci ; 74(12): 2229-2238, 2017 06.
Article in En | MEDLINE | ID: mdl-28168442
Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the skin is broadly involved throughout the affected individual's lifetime, but rarely, appearance of normal skin clones has been described. In these cases of revertant mosaicism, cells undergo spontaneous correction to ameliorate the effects of genetic mutation. While targeted reversion of genetic mutation would have tremendous therapeutic value, the mechanisms of reversion in the skin are poorly understood. In this review, we provide an overview of genodermatoses that demonstrate widespread reversion and their corrective mechanisms, as well as the current research aimed to understand this "natural gene therapy".
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Full text: 1 Database: MEDLINE Main subject: Skin Diseases / Mosaicism / Mutation Limits: Humans Language: En Journal: Cell Mol Life Sci Journal subject: BIOLOGIA MOLECULAR Year: 2017 Type: Article Affiliation country: United States

Full text: 1 Database: MEDLINE Main subject: Skin Diseases / Mosaicism / Mutation Limits: Humans Language: En Journal: Cell Mol Life Sci Journal subject: BIOLOGIA MOLECULAR Year: 2017 Type: Article Affiliation country: United States