Identification and characterization of exonic variants related with familial essential tremor

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buir.advisorTekinay, Ayşe Begüm
dc.contributor.authorTuncay, İslam Oğuz
dc.date.accessioned2017-08-10T08:26:27Z
dc.date.available2017-08-10T08:26:27Z
dc.date.copyright2017-07
dc.date.issued2017-07
dc.date.submitted2017-08-09
dc.descriptionCataloged from PDF version of article.en_US
dc.descriptionThesis (M.S.): Bilkent University, Department of Neuroscience, İhsan Doğramacı Bilkent University, 2017.en_US
dc.descriptionIncludes bibliographical references (leaves 59-69).en_US
dc.description.abstractEssential tremor (ET) is the most common movement disorder in humans. Despite its high heritability and frequency, the genetic basis and pathophysiology of ET is not well understood. In this study, whole exome sequencing and pedigree analyses were performed in unrelated ET families from Anatolia. Whole exome sequencing analysis of family members resulted in the identification of MMP19 p.R456Q in families ET-5 and ET-49. Expression analysis in mice showed a possible developmental pattern for expression of MMP-19 as well as a tissue-specific expression pattern showing high levels of expression in the brain for this gene. Two other families, ET-17 and ET-19 were also analyzed; however the results were not able to identify variant cosegregating with ET in these families. Identification of the new genes related with ET will provide invaluable insights into the underlying mechanism of thıs most common movement disorder and will potentially open new avenues for its treatment.en_US
dc.description.provenanceSubmitted by Betül Özen (ozen@bilkent.edu.tr) on 2017-08-10T08:26:27Z No. of bitstreams: 1 oguz_tuncay_thesis.pdf: 2825751 bytes, checksum: ddc515c9b913ff5e518e3b56c6686e8c (MD5)en
dc.description.provenanceMade available in DSpace on 2017-08-10T08:26:27Z (GMT). No. of bitstreams: 1 oguz_tuncay_thesis.pdf: 2825751 bytes, checksum: ddc515c9b913ff5e518e3b56c6686e8c (MD5) Previous issue date: 2017-07en
dc.description.statementofresponsibilityby İslam Oğuz Tuncay.en_US
dc.embargo.release2019-07-26
dc.format.extentxiv, 70 leaves : illustrations (some color), charts ; 29 cm.en_US
dc.identifier.itemidB156089
dc.identifier.urihttp://hdl.handle.net/11693/33544
dc.language.isoEnglishen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEssential tremoren_US
dc.subjectHuman geneticsen_US
dc.subjectWhole exome sequencingen_US
dc.subjectMovement disordersen_US
dc.subjectDisease gene identificationen_US
dc.titleIdentification and characterization of exonic variants related with familial essential tremoren_US
dc.title.alternativeAilesel esansiyel tremor ile ilişkili ekzonik varyantların belirlenmesi ve karakterizasyonuen_US
dc.typeThesisen_US
thesis.degree.disciplineNeuroscience
thesis.degree.grantorBilkent University
thesis.degree.levelMaster's
thesis.degree.nameMS (Master of Science)

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