The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations.
dc.contributor.author | Glaser, R.L. | |
dc.contributor.author | Ramsay, Josh | |
dc.contributor.author | Morison, I.M. | |
dc.date.accessioned | 2020-03-04T02:27:51Z | |
dc.date.available | 2020-03-04T02:27:51Z | |
dc.date.issued | 2006 | |
dc.identifier.citation | Glaser, R.L. and Ramsay, J.P. and Morison, I.M. 2006. The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations. Nucleic acids research. 34 (Database issue): pp. D29-D31. | |
dc.identifier.uri | http://hdl.handle.net/20.500.11937/78107 | |
dc.identifier.doi | 10.1093/nar/gkj101 | |
dc.description.abstract |
The imprinted gene and parent-of-origin effect database (www.otago.ac.nz/IGC) consists of two sections. One section catalogues the current literature on imprinted genes in humans and animals. The second, and new, section catalogues current reports of parental origin of de novo mutations in humans alone. The addition of a catalogue of de novo mutations that show a parent-of-origin effect expands the scope of the database and provides a useful tool for examining parental origin trends for different types of spontaneous mutations. This new section includes >1700 mutations, found in 59 different disorders. The 85 imprinted genes are described in 152 entries from several mammalian species. In addition, >300 other entries describe a range of reported parent-of-origin effects in animals. | |
dc.language | English | |
dc.publisher | OXFORD UNIV PRESS | |
dc.relation.uri | https://academic.oup.com/nar/article/34/suppl_1/D29/1133376 | |
dc.subject | Science & Technology | |
dc.subject | Life Sciences & Biomedicine | |
dc.subject | Biochemistry & Molecular Biology | |
dc.subject | HUTCHINSON-GILFORD PROGERIA | |
dc.subject | PATERNAL ORIGIN | |
dc.subject | RETT-SYNDROME | |
dc.subject | MECP2 MUTATIONS | |
dc.subject | CHROMOSOME | |
dc.subject | HUMANS | |
dc.title | The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations. | |
dc.type | Journal Article | |
dcterms.source.volume | 34 | |
dcterms.source.number | Database issue | |
dcterms.source.startPage | D29 | |
dcterms.source.endPage | D31 | |
dcterms.source.issn | 0305-1048 | |
dcterms.source.title | Nucleic acids research | |
dc.date.updated | 2020-03-04T02:27:51Z | |
curtin.department | School of Pharmacy and Biomedical Sciences | |
curtin.accessStatus | Open access via publisher | |
curtin.faculty | Faculty of Health Sciences | |
curtin.contributor.orcid | Ramsay, Josh [0000-0002-1301-7077] | |
dcterms.source.eissn | 1362-4962 | |
curtin.contributor.scopusauthorid | Ramsay, Josh [8529700000] |