Peer-reviewed veterinary case report
POT of gold: modeling dyskeratosis congenita in the mouse.
- Journal:
- Genes & development
- Year:
- 2008
- Authors:
- Autexier, Chantal
- Affiliation:
- Department of Anatomy and Cell Biology and Department of Medicine · Canada
Abstract
Dyskeratosis congenita (DC) is a rare syndrome, characterized by cutaneous abnormalities and premature death caused by bone marrow failure. In this issue of Genes & Development, Hockemeyer and colleagues (pp. 1773-1785) report a new mouse model that reconstitutes key features of DC. Disease phenotypes are generated by a POT1b deletion in a telomerase-deficient background that accelerates the shortening of telomeres by degradation.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/18593874/