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      • Theses - Graduate Program in Neuroscience
      • Graduate Program in Neuroscience - Master's degree
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      Identification and characterization of exonic variants related with familial essential tremor

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      Embargo Lift Date: 2019-07-26
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      Author(s)
      Tuncay, İslam Oğuz
      Advisor
      Tekinay, Ayşe Begüm
      Date
      2017-07
      Publisher
      Bilkent University
      Language
      English
      Type
      Thesis
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      Abstract
      Essential 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.
      Keywords
      Essential tremor
      Human genetics
      Whole exome sequencing
      Movement disorders
      Disease gene identification
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      http://hdl.handle.net/11693/33544
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      • Graduate Program in Neuroscience - Master's degree 49
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