Show simple item record

dc.contributor.advisorFarrar, Jane
dc.contributor.authorKernan, Fiona
dc.date.accessioned2019-04-30T11:39:40Z
dc.date.available2019-04-30T11:39:40Z
dc.date.issued2006
dc.identifier.citationFiona Kernan, 'Therapeutic stratagems for dominant genetic disorders', [thesis], Trinity College (Dublin, Ireland). Department of Genetics, 2006, pp 408
dc.identifier.otherTHESIS 7962
dc.identifier.urihttp://hdl.handle.net/2262/86406
dc.description.abstractAutosomal dominant genetic diseases exhibit a phenotype when one gene allele is mutated whereas recessive diseases require both alleles to be mutated for disease pathology to arise. Disease alleles inherited in a dominant manner may give rise to disease pathology via a com bination of one or more of the follow ing mechanisms: 1) a reduction in the level of wild-type (wt) protein (haploinsufficiency), 2) interference with the activity of the wt protein or 3) the gaining of new functions. For diseases where pathology arises from haploinsufficiency, delivery of the wt gene may be sufficient to provide therapeutic benefit. However, for mutations that have a dom inant effect, delivery of the wt gene alone may not be sufficient and hence, suppression of the mutant gene may be necessary. Examples of diseases that arise as a result of dominant mutations include autosomal dominant retinitis pigmentosa (adRP) and osteogenesis imperfecta (01) (Millington-Ward et al., 1997). In addition, mutations that act in a dominant manner may contribute to the pathology of multi-factorial diseases such as p53-related cancer and Alzheimer's disease (Farrar el al., 2002).
dc.format1 volume
dc.language.isoen
dc.publisherTrinity College (Dublin, Ireland). Department of Genetics
dc.relation.isversionofhttp://stella.catalogue.tcd.ie/iii/encore/record/C__Rb12733175
dc.subjectGenetics, Ph.D.
dc.subjectPh.D. Trinity College Dublin
dc.titleTherapeutic stratagems for dominant genetic disorders
dc.typethesis
dc.type.supercollectionthesis_dissertations
dc.type.supercollectionrefereed_publications
dc.type.qualificationlevelDoctoral
dc.type.qualificationnameDoctor of Philosophy (Ph.D.)
dc.rights.ecaccessrightsopenAccess
dc.format.extentpaginationpp 408
dc.description.noteTARA (Trinity's Access to Research Archive) has a robust takedown policy. Please contact us if you have any concerns: rssadmin@tcd.ie


Files in this item

Thumbnail
Thumbnail

This item appears in the following Collection(s)

Show simple item record