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Positive Correlation between Androgen Receptor CAG Repeat Length and Metabolic Syndrome in a Korean Male Population

Kim JW, Bae YD, Ahn ST, Kim JW, Kim JJ, Moon DG

PURPOSE: In epidemiological studies, there are various associations of androgen receptor (AR) CAG with several diseases or phenotypes. However, the relationship between CAG repeat length and metabolic syndrome (MS) remains...
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No Association between (AAT)n Repeat Polymorphisms in the Cannabinoid Receptor 1 Gene and Smooth Pursuit Eye Movement Abnormality in Korean Patients with Schizophrenia

Kim MJ, Kim CR, Park JW, Pak DH, Shin HD, Choi IG, Hahn SW, Hwang J, Lee YJ, Woo SI

OBJECTIVES: According to previous studies, the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. Some studies have linked the (AAT)n trinucleotide repeat polymorphism in CNR1...
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Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

Song JS, Kim KA, Min JH, Ki CS, Kim JW, Sung DH, Kim BJ

PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there...
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Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17

Kim GH, Chung SJ, Ryu HS, Kim J, Lee JJ, Choi SH, Lee J, Lee BH, Choi JH, Yoo HW

PURPOSE: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common...
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Transient Complete Atrioventricular Block in a Preterm Neonate with Congenital Myotonic Dystrophy: Case Report

Kim HN, Cho YK, Cho JH, Yang EM, Song ES, Choi YY

Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in...
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Distribution of five common subtypes of spinocerebellar ataxia in the Korean population

Choi IH, Kim GH, Lee BH, Choi JH, Yoo HW

PURPOSE: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more...
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Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease

Kim JS, Son TO, Youn J, Ki CS, Cho JW

BACKGROUND: Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied...
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Analysis of the Globular Nature of Proteins

Jung S, Son HS

  • KMID: 2053266
  • Genomics Inform.
  • 2011 Jun;9(2):74-78.
Numerous restraints and simplifications have been developed for methods that anticipate protein structure to reduce the colossal magnitude of possible conformational states. In this study, we investigated if globularity is...
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Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy

Park YM, Lim YM, Kim DS, Lee JK, Kim KK

  • KMID: 2053264
  • Genomics Inform.
  • 2011 Jun;9(2):64-68.
Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought...
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A Study on CAG Repeat Polymorphisms of the Androgen Receptor in Korean Androgenetic Alopecia : Preliminary Report

Jung JG, Park JW, Kim MH, Cinn YW

  • KMID: 2425015
  • Korean J Dermatol.
  • 2009 Jul;47(7):772-776.
BACKGROUND: The androgen receptor (AR) is a conserved member of the nuclear receptor superfamily. Differences in the AR gene sequence are characterized mostly by a highly polymorphic trinucleotide repeat (CAG)...
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Molecular diagnosis of fragile X syndrome in a female child

Jeong SY, Yang JA, Kim HJ

  • KMID: 2184446
  • J Genet Med.
  • 2008 Jun;5(1):41-46.
PURPOSE: Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5'...
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Trinucleotide Repeats Number in SCA2, SCA3, and SCA17 in Early-Onset Parkinson's Disease

Choi JM, Woo MS, Kim S, Ma HI, Sung YH, Lee PH, Chung SJ, Kim JS, Kang SY, Shin HW, Lyoo CH, Sohn YH, Kim JH, Kim JW, Kim SJ, Baik JS, Park MY, Lee MS, Lee MC, Kim YJ

  • KMID: 2343305
  • J Korean Neurol Assoc.
  • 2008 Feb;26(1):23-27.
BACKGROUND: Abnormal expansion of trinucleotide repeats in genes causing spinocerebellar ataxias such as SCA2, SCA3, SCA8, or SCA17 was reported in sporadic or familial Parkinson's disease. Genetic factors play an...
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Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method

Nam SH, Son YB, Lee BL, Lee J, Ki CS, Lee M

PURPOSE: We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics...
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Optimized Methods of Preimplantation Genetic Diagnosis for Trinucleotide Repeat Diseases of Huntington's Disease, Spinocerebellar Ataxia 3 and Fragile X Syndrome

Kim MJ, Lee HS, Lim CK, Cho JW, Kim JY, Koong MK, Song IO, Kang IS, Jun JH

  • KMID: 1986938
  • Korean J Reprod Med.
  • 2007 Sep;34(3):179-188.
OBJECTIVES: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation...
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Trinucleotide Repeat Polymorphisms of Spinal and Bulbar Muscular Atrophy (SBMA) Gene in Asian Populations

Yee SB

  • KMID: 2376073
  • Korean J Phys Anthropol.
  • 2007 Jun;20(2):127-135.
I previously reported the PCR-based Spinal and bulbar muscular atrophy (SBMA) region polymorphisms in the three northeast Asian populations (Chinese, Koreans, Japanese) and Caucasians. Here I update this analysis by...
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A Family of Dentatorubropallidoluysian Atrophy

Chung JY, Park MY, Lee J, Yoon JP, Park HJ

  • KMID: 2320174
  • Yeungnam Univ J Med.
  • 2006 Jun;23(1):118-123.
Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited in an autosomal dominant pattern. DRPLA has been shown to be associated with expansion of an unstable cytosine-adenine-guanine (CAG) trinucleotide...
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Mechanisms of Myotonic Dystrophies 1 and 2

Lubov T

  • KMID: 2285303
  • Korean J Physiol Pharmacol.
  • 2005 Feb;9(1):1-8.
Myotonic Dystrophies type 1 and 2 (DM1/2) are neuromuscular disorders which belong to a group of genetic diseases caused by unstable CTG triplet repeat (DM1) and CCTG tetranucleotide repeat (DM2)...
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Distribution of Alleles and Clinical Manifestation in Patients with Progressive Ataxia Caused by Trinucleotide Repeat Expansion

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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A Case of Spinocerebellar Ataxia Type 7 with Torticollis

Lee JG, Kim HS, Lee MS

  • KMID: 2185774
  • J Korean Neurol Assoc.
  • 2003 Dec;21(6):663-666.
The spinocerebellar ataxia type 7 is an autosomal dominant neurodegenerative disorder with expansion of unstable CAG trinucleotide repeats in a gene on chromosome 3p, and is classified as autosomal dominant...
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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

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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