Title

When enough is enough: genetic diseases associated with transcriptional derepression

UMMS Affiliation

Program in Gene Function and Expression; Program in Molecular Medicine

Publication Date

2004-06-03

Document Type

Article

Subjects

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.

DOI of Published Version

10.1016/j.gde.2004.04.010

Source

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

Journal/Book/Conference Title

Current opinion in genetics and development

Related Resources

Link to Article in PubMed

PubMed ID

15172674

Share

COinS