When enough is enough: genetic diseases associated with transcriptional derepression
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Document Type
Journal ArticlePublication Date
2004-06-03Keywords
Alzheimer Disease*Gene Silencing
Genetic Diseases, Inborn
Humans
Klippel-Trenaunay-Weber Syndrome
Muscular Dystrophy, Facioscapulohumeral
Repressor Proteins
Rett Syndrome
*Transcriptional Activation
Genetics and Genomics
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Show full item recordAbstract
For many human genetic diseases, the underlying genetic defect has been determined. Thus, although traditionally a field only for researchers in medicine or human genetics, human diseases are now opening up to molecular biologists, cell biologists and biochemists. Here we discuss four human genetic disorders, Familial Alzheimer's disease, Rett syndrome, Klippel-Trenaunay syndrome and Facioscapulohumeral muscular dystrophy, and how investigations into these diseases are providing important lessons about human biology.Source
Curr Opin Genet Dev. 2004 Jun;14(3):301-7. Link to article on publisher's siteDOI
10.1016/j.gde.2004.04.010Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43931PubMed ID
15172674Related Resources
Link to Article in PubMedae974a485f413a2113503eed53cd6c53
10.1016/j.gde.2004.04.010