- Human FEN-1 can process the 5'-flap DNA of CTG/CAG triplet repeat derived from human genetic diseases by length and sequence dependent manner
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Lee SM, Park MS
- KMID: 931883
- Exp Mol Med.
- 2002 Sep;34(4):313-317.
Trinucleotide repeat (TNR) instability can cause a variety of human genetic diseases including myotonic dystrophy and Huntington's disease. Recent genetic data show that instability of the CAG/CTG repeat DNA... -
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- Distribution of Alleles and Clinical Manifestation in Patients with Progressive Ataxia Caused by Trinucleotide Repeat Expansion
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Lee SG, Ki CS, Kim JW, Suh JS
- KMID: 1866523
- Korean J Lab Med.
- 2003 Feb;23(1):60-66.
BACKGROUND: Trinucleotide repeat (TNR) expanded disorders represent a novel class of human mutations, which are characterized by abnormal elongation of the triplet repeat sequence in the human genome and is... -
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- RNA Mapping of Mutant Myotonic Dystrophy Protein Kinase 3'-Untranslated Region Transcripts
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Song MS, Lee SW
- KMID: 2166464
- Genomics Inform.
- 2009 Dec;7(4):181-186.
Myotonic dystrophy type 1 (DM1), which is a dominantly inherited neurodegenerative disorder, results from a CTG trinucleotide repeat expansion in the 3'-untranslated region (3'-UTR) of the myotonic dystrophy protein kinase... -
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- CAG Repeat Expansions in the Patients with Mood Disorder
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Sohn SE, Lim SW, Lee SY, Hwang HZ, Jin DK, Park JE, Kim DK, Kim E
- KMID: 2340441
- J Korean Neuropsychiatr Assoc.
- 2000 Mar;39(2):373-380.
OBJECTIVES: The genetic facotrs have been suggested for the etiology of mood disorders but the mode of inheritance is complex. Increased severity and an earlier onset of the bipolar and... -
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- Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women
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Kang KM, Sung SR, Park JE, Shin YJ, Park SH, Chin MU, Lyu SW, Cha DH, Shim SH
- KMID: 2327697
- J Genet Med.
- 2016 Jun;13(1):14-19.
- doi: 10.5734/JGM.2016.13.1.14
PURPOSE: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. MATERIALS AND METHODS: The CGG repeats in the FMR1... -
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- A study of trinucleotide repeat expansions in myotonic dystrophy
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Jin DK, Kim BJ, Lee KH, Lee MH, Oh PS, Jeon KW, Hwang HZ, Noh HW, Kim SJ, Yeo SH, Yu JS
- KMID: 2342590
- J Korean Neurol Assoc.
- 1997 Feb;15(1):90-98.
PURPOSE: The trinucleotide repeat expansion in the 3' untanslated resion of the gene is known to be the cause of myotonic dystrophy which is one of most common neurodegenerative disorder... -
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- Molecular and Clinical Characteristics of Myotonic Dystrophy Type 1 in Koreans
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Kim SY, Kim JY, Kim GP, Sung JJ, Lim KS, Lee KW, Chae JH, Hong YH, Seong MW, Park SS
- KMID: 1781584
- Korean J Lab Med.
- 2008 Dec;28(6):483-492.
- doi: 10.3343/kjlm.2008.28.6.483
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant muscular dystrophy caused by expansion of cytosine-thymine-guanine (CTG) trinucleotide repeats in the myotonic dystrophy protein kinase (DMPK) gene. The clinical features... -
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- Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport
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Kim BC, Kim MK, Cho KH, Jeon BS
- KMID: 1109775
- J Korean Med Sci.
- 2002 Aug;17(4):577-579.
- doi: 10.3346/jkms.2002.17.4.577
A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no... -
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- Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I
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Yoo WK, Park YG, Choi YC, Kim SM
- KMID: 2419088
- Yonsei Med J.
- 2017 Jul;58(4):807-815.
- doi: 10.3349/ymj.2017.58.4.807
PURPOSE: Myotonic dystrophy type 1 (DM1) is characterized by progressive muscular weakness with symptoms caused by involvement of the brain. The aim of this study was to delineate global changes... -
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