Title

When enough is enough: genetic diseases associated with transcriptional derepression

UMMS Affiliation

Program in Gene Function and Expression; Program in Molecular Medicine

Date

6-3-2004

Document Type

Article

Medical Subject Headings

Alzheimer Disease; *Gene Silencing; Genetic Diseases, Inborn; Humans; Klippel-Trenaunay-Weber Syndrome; Muscular Dystrophy, Facioscapulohumeral; Repressor Proteins; Rett Syndrome; *Transcriptional Activation

Disciplines

Genetics and Genomics

Abstract

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.

Rights and Permissions

Citation: Curr Opin Genet Dev. 2004 Jun;14(3):301-7. Link to article on publisher's site

Related Resources

Link to Article in PubMed

PubMed ID

15172674