When enough is enough: genetic diseases associated with transcriptional derepression
| dc.contributor.author | Gabellini, Davide | |
| dc.contributor.author | Green, Michael R. | |
| dc.contributor.author | Tupler, Rossella | |
| dc.date | 2022-08-11T08:10:15.000 | |
| dc.date.accessioned | 2022-08-23T17:01:05Z | |
| dc.date.available | 2022-08-23T17:01:05Z | |
| dc.date.issued | 2004-06-03 | |
| dc.date.submitted | 2011-04-19 | |
| dc.identifier.citation | Curr Opin Genet Dev. 2004 Jun;14(3):301-7. <a href="http://dx.doi.org/10.1016/j.gde.2004.04.010">Link to article on publisher's site</a> | |
| dc.identifier.issn | 0959-437X (Linking) | |
| dc.identifier.doi | 10.1016/j.gde.2004.04.010 | |
| dc.identifier.pmid | 15172674 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.14038/43931 | |
| dc.description.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. | |
| dc.language.iso | en_US | |
| dc.relation | <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=15172674&dopt=Abstract">Link to Article in PubMed</a> | |
| dc.relation.url | http://dx.doi.org/10.1016/j.gde.2004.04.010 | |
| dc.subject | Alzheimer Disease | |
| dc.subject | *Gene Silencing | |
| dc.subject | Genetic Diseases, Inborn | |
| dc.subject | Humans | |
| dc.subject | Klippel-Trenaunay-Weber Syndrome | |
| dc.subject | Muscular Dystrophy, Facioscapulohumeral | |
| dc.subject | Repressor Proteins | |
| dc.subject | Rett Syndrome | |
| dc.subject | *Transcriptional Activation | |
| dc.subject | Genetics and Genomics | |
| dc.title | When enough is enough: genetic diseases associated with transcriptional derepression | |
| dc.type | Journal Article | |
| dc.source.journaltitle | Current opinion in genetics and development | |
| dc.source.volume | 14 | |
| dc.source.issue | 3 | |
| dc.identifier.legacycoverpage | https://escholarship.umassmed.edu/pgfe_pp/142 | |
| dc.identifier.contextkey | 1946797 | |
| html.description.abstract | <p>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.</p> | |
| dc.identifier.submissionpath | pgfe_pp/142 | |
| dc.contributor.department | Program in Molecular Medicine | |
| dc.contributor.department | Program in Gene Function and Expression | |
| dc.source.pages | 301-7 |
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