Abstract |
Despite their rarity, diseases of premature aging, or "progeroid" syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging. In this review, we highlight these recent developments in Hutchinson-Gilford progeria syndrome (HGPS), Werner syndrome, Bloom syndrome, Cockayne syndrome, trichothiodystrophy, ataxia-telangiectasia, Rothmund-Thomson syndrome, and xeroderma pigmentosum. Though they are caused by different mutations in various genes and often result in quite disparate phenotypes, deciphering the molecular bases of these conditions has served to highlight their underlying basic similarities. Studies of progeroid syndromes, particularly HGPS, the most dramatic form of premature aging, have contributed to our knowledge of fundamental processes of importance to skin biology, including DNA transcription, replication, and repair, genome instability, cellular senescence, and stem-cell differentiation.
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Authors | Brian C Capell, Brook E Tlougan, Seth J Orlow |
Journal | The Journal of investigative dermatology
(J Invest Dermatol)
Vol. 129
Issue 10
Pg. 2340-50
(Oct 2009)
ISSN: 1523-1747 [Electronic] United States |
PMID | 19387478
(Publication Type: Journal Article, Review)
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Topics |
- Aging, Premature
(genetics, pathology)
- Cellular Senescence
(genetics)
- DNA Damage
(genetics)
- Genomic Instability
(genetics)
- Humans
- Mutation
(genetics)
- Progeria
(genetics, pathology)
- Skin Neoplasms
(genetics, pathology)
- Syndrome
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