0 308

Cited 10 times in

Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea

DC Field Value Language
dc.contributor.author박용구-
dc.contributor.author장진우-
dc.contributor.author조윤희-
dc.date.accessioned2017-10-26T06:08:51Z-
dc.date.available2017-10-26T06:08:51Z-
dc.date.issued2005-
dc.identifier.issn0885-3185-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/150569-
dc.description.abstractEssential tremor (ET) is the most common but a complex neurological movement disorder. ET usually affects hands, but it may also affect head, neck, face, jaw, tongue, voice, trunk and, rarely, legs and feet. Although two susceptibility loci were identified on chromosome 2p24 (ETM2) and 3q13 (ETM1 or FET1), the exact transcript(s) has not been cloned. We analyzed unrelated Korean individuals with ET for a genetic association with three reported polymorphic loci (STS-etm1240, STS-etm1231, and STS-etm1234) in a candidate region on chromosome 2p24.1. We investigated sequence polymorphisms at these three loci in 30 ET patients and 30 controls using polymerase chain reaction (PCR) amplification followed by sequence analysis. Eight different sequence variants (5 at etm1234, 2 at etm1240, and 1 at etm1231) were detected from 7 patients. Of interest, sequence variants were found only in classic ET patients but not in nonclassic ET patients and healthy individuals. Additionally, we also observed that a decrease in the number of short tandem repeats within etm1234 locus is more frequent in ET patients compared to controls. Our data thus support that ET development would be linked with the ETM2 locus and will facilitate the search for the ETM2 gene transcript.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherWiley-Liss-
dc.relation.isPartOfMOVEMENT DISORDERS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAged-
dc.subject.MESHAged, 80 and over-
dc.subject.MESHCase-Control Studies-
dc.subject.MESHChromosome Mapping-
dc.subject.MESHChromosomes, Human, Pair 2*-
dc.subject.MESHEssential Tremor/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGene Frequency-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHGenetic Variation*-
dc.subject.MESHHumans-
dc.subject.MESHKorea/ethnology-
dc.subject.MESHLinkage Disequilibrium*-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHTandem Repeat Sequences-
dc.titleFrequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea-
dc.typeArticle-
dc.publisher.locationUnited States-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurosurgery (신경외과학교실)-
dc.contributor.departmentDept. of Neurosurgery (신경외과학교실)-
dc.contributor.departmentYonsei Biomedical Research Center (연세의생명연구원)-
dc.contributor.googleauthorJeong-Hyun Kim-
dc.contributor.googleauthorYoon-Hee Cho-
dc.contributor.googleauthorJeong-Kook Kim-
dc.contributor.googleauthorYong-Gou Park-
dc.contributor.googleauthorJin Woo Chang-
dc.identifier.doi10.1002/mds.20646-
dc.contributor.localIdA01578-
dc.contributor.localIdA03484-
dc.contributor.localIdA03876-
dc.relation.journalcodeJ02275-
dc.identifier.eissn1531-8257-
dc.identifier.pmid16092108-
dc.identifier.urlhttp://onlinelibrary.wiley.com/doi/10.1002/mds.20646/abstract-
dc.subject.keywordessential tremor (ET)-
dc.subject.keywordETM2-
dc.subject.keywordshort tandem repeats (STRs)-
dc.subject.keywordpolymorphism-
dc.contributor.alternativeNamePark, Yong Gou-
dc.contributor.alternativeNameChang, Jin Woo-
dc.contributor.alternativeNameCho, Yoon Hee-
dc.citation.volume20-
dc.citation.number12-
dc.citation.startPage1650-
dc.citation.endPage1653-
dc.identifier.bibliographicCitationMOVEMENT DISORDERS, Vol.20(12) : 1650-1653, 2005-
dc.date.modified2017-05-04-
dc.identifier.rimsid44142-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.