https://scholars.lib.ntu.edu.tw/handle/123456789/463706
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Taylor J.M | en_US |
dc.contributor.author | RUEY-MEEI WU | en_US |
dc.contributor.author | Farrer M.J | en_US |
dc.contributor.author | Delatycki M.B | en_US |
dc.contributor.author | Lockhart P.J. | en_US |
dc.creator | Lockhart P.J.;Delatycki M.B;Farrer M.J;RUEY-MEEI WU;Taylor J.M | - |
dc.date.accessioned | 2020-02-25T08:01:39Z | - |
dc.date.available | 2020-02-25T08:01:39Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 1353-8020 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/463706 | - |
dc.description.abstract | PArkin Co-Regulated Gene (PACRG) is a novel gene which is transcriptionally co-regulated with the parkin gene (PRKN) by a shared bi-directional promoter. To determine whether mutations in PACRG are associated with early-onset Parkinson's disease (EO-PD), we performed sequence and dosage analysis of 76 EO-PD patients from a Taiwanese-Ethnic Chinese cohort. This analysis identified two novel nucleotide variants in the non-coding region of PACRG. One patient had an IVS2 + 247851T > C heterozygous change and two patients had an IVS4 + 78A > G heterozygous alteration. Neither of these variants was present in the 91 controls tested. A third intronic polymorphism (IVS1 + 85744insC) was present in cases and controls at an equivalent frequency (?0.25). To facilitate gene dosage analysis, we identified cell lines with a heterozygous deletion or duplication of the entire PACRG locus. Three patients with heterozygous dosage alterations were identified, including two patients with an exon 2 duplication and one patient with an exon 3 deletion of PACRG. No dosage alterations were observed in the 91 controls analyzed (χ2 = 3.66, P = 0.056). Our results suggest that point mutations in PACRG are not a common cause of EO-PD but haploinsufficiency for PACRG may be associated with disease. ? 2008 Elsevier Ltd. All rights reserved. | - |
dc.relation.ispartof | Parkinsonism and Related Disorders | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | nucleotide; parkin; parkin co regulated protein; unclassified drug; adult; article; cell line; Chinese; controlled study; ethnic group; exon; female; gene deletion; gene dosage; gene duplication; gene locus; gene mutation; gene sequence; genetic polymorphism; heterozygosity; human; intron; major clinical study; male; Parkinson disease; priority journal; Taiwan; Adult; Asian Continental Ancestry Group; Chromosome Mapping; Cohort Studies; DNA Mutational Analysis; Exons; Female; Genotype; Heterozygote; Humans; Male; Middle Aged; Molecular Chaperones; Mutation; Parkinson Disease; Taiwan | - |
dc.title | Analysis of PArkin Co-Regulated Gene in a Taiwanese-Ethnic Chinese cohort with early-onset Parkinson's disease | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1016/j.parkreldis.2008.11.009 | - |
dc.identifier.pmid | 19196541 | - |
dc.identifier.scopus | 2-s2.0-67349098499 | - |
dc.relation.pages | 417-421 | - |
dc.relation.journalvolume | 15 | - |
dc.relation.journalissue | 6 | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.cerifentitytype | Publications | - |
item.openairetype | journal article | - |
item.grantfulltext | none | - |
crisitem.author.dept | Neurology-NTUH | - |
crisitem.author.dept | Brain and Mind Sciences | - |
crisitem.author.dept | Neurology | - |
crisitem.author.dept | The Clinical Center for Neuroscience and Behavior | - |
crisitem.author.dept | Psychology | - |
crisitem.author.orcid | 0000-0002-4947-5467 | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Science | - |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。