When enough is enough: genetic diseases associated with transcriptional derepression
Program in Gene Function and Expression; Program in Molecular Medicine
Alzheimer Disease; *Gene Silencing; Genetic Diseases, Inborn; Humans; Klippel-Trenaunay-Weber Syndrome; Muscular Dystrophy, Facioscapulohumeral; Repressor Proteins; Rett Syndrome; *Transcriptional Activation
Genetics and Genomics
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.
DOI of Published Version
Curr Opin Genet Dev. 2004 Jun;14(3):301-7. Link to article on publisher's site
Current opinion in genetics and development
Gabellini, Davide; Green, Michael R.; and Tupler, Rossella, "When enough is enough: genetic diseases associated with transcriptional derepression" (2004). Program in Gene Function and Expression Publications and Presentations. 142.