title: When enough is enough: genetic diseases associated with transcriptional derepression.
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.
authors.affiliation: Howard Hughes Medical Institute, Programs in Gene Function and Expression and Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA. Davide.Gabellini@umassmed.edu
authors.forename: Davide
authors.initials: D
authors.lastname: Gabellini
authors.forename: Michael R
authors.initials: MR
authors.lastname: Green
authors.forename: Rossella
authors.initials: R
authors.lastname: Tupler
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics; D020868:Gene Silencing; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000235:genetics; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism; D015518:Rett Syndrome / Q000235:genetics; D015533:Transcriptional Activation
chemical_list: D012097:Repressor Proteins