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Three Cases of beta-thalassemia in Children with HBB Gene Mutation

Kang EY, Lee HJ, Choi SI, Park EH, Kim SY, Hwang PH

  • KMID: 2279917
  • Clin Pediatr Hematol Oncol.
  • 2007 Oct;14(2):192-197.
Beta thalassemia is an inherited anemia characterized by decreased or absent synthesis of beta globin chain and known to be uncommon in Korea, but is recently reported more frequently in...
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Cloning and Nucleotide Sequence of the aroA Gene from Shigella sonnei KNIH104S

Park YC, Shin HJ, Hong SG, Hwang SY, Park GD, Ju YR, Lee KJ, Kim YC

  • KMID: 1943458
  • J Korean Soc Microbiol.
  • 1997 Apr;32(2):151-160.
Shigella sonnei is important causes of human enteric infections. S. sonnei KNIH104S was isolated from patient of shigellosis in Korea and previously reported. We cloned 5.2-kb KpnI fragment containing the...
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Sequence Analysis of Mitochondrial Genome of Toxascaris leonina from a South China Tiger

Li K, Yang F, Abdullahi , Song M, Shi X, Wang M, Fu Y, Pan W, Shan F, Chen W, Li G

Toxascaris leonina is a common parasitic nematode of wild mammals and has significant impacts on the protection of rare wild animals. To analyze population genetic characteristics of T. leonina from...
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An RNA Mapping Strategy to Identify Ribozyme-Accessible Sites on the Catalytic Subunit of Mouse Telomerase

Song MS, Lee SW

  • KMID: 2166253
  • Genomics Inform.
  • 2007 Mar;5(1):32-35.
Telomerase reverse transcriptase (TERT) is an enzymatic ribonucleoprotein that prolongs the replicative life span of cells by maintaining protective structures at the ends of eukaryotic chromosomes. Telomerase activity is highly...
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Molecular Cloning and Nucleotide Sequence of a Gene Encoding Alcohol Dehydrogenase of Helicobacter pylori

Rhee KH, Lee WK, Cho MJ, Baik SC, Jeon YS, Choi YJ, Ryu BD, Song JY, Lee IG, Choi SH

  • KMID: 2099281
  • J Korean Soc Microbiol.
  • 1998 Apr;33(2):129-137.
Partially purified H. pylori ADH was used to determine the amino acid sequence of ADH N- terminus. The sequence of the ADH N-terminus was determined as MRVQSKGF. The genomic library...
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Control Mechanism for Production and Activation of Helicobacter pylori Urease

Rhee KH, Lee WK, Cho MJ, Baik SC, Jeon YS, An YS, Choi YJ, Ryu BD, Song JY, Lee IG, Choi SH

  • KMID: 2146933
  • J Korean Soc Microbiol.
  • 1998 Feb;33(1):1-13.
To define the genes for production of catalytically active H. pylori urease, we camed out study to elucidate the structure of urease gene transcript, to delineate the genetic region which...
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Detection of Pyrazinamide Resisitance in Mycobacterium Tuberculosis by Sequencing of pncA Gene

Hwang JY, Kwak KR, Park HK, Lee JS, Park SS, Kim YS, Lee JY, Chang CH, Lee MK, Park SK

BACKGROUND: Examining the biological susceptibility of Mycobacterium tuberculosis to pyrazinamide (PZA) in vitro is very difficult as PZA is inactive under normal culture conditions. The susceptibility test, an enzyme assay...
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Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review

Lee JH, Davaatseren M, Lee S

Since parathyroid hormone (PTH) was first isolated and its gene (PTH) was sequenced, only eight PTH mutations have been discovered. The C18R mutation in PTH, discovered in 1990, was the...
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The Vitamin D Receptor Start Codon Polymorphism (SCP) and Bone Mineral Density in Korean Women

Chung DJ, Cheon NI, Lee CH, Cho DH, Kang HC, Chung MY, Park JT, Yang SW

  • KMID: 2274996
  • Chonnam Med J.
  • 2001 Sep;37(3):277-283.
Bone mineral density (BMD) is thought to be under strong genetic control. Polymorphisms of the vitamin D receptor (VDR) gene have recently been suggested to account for some of the...
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Functional Modification of a Specific RNA with Targeted Trans-Splicing

Park YH, Kim SC, Kwon BS, Jung HS, Kimm K, Lee SW

  • KMID: 1974010
  • Genomics Inform.
  • 2004 Mar;2(1):45-52.
The self-splicing group I intron from Tetrahymena thermophila has been demonstrated to perform splicing reaction with its substrate RNA in the trans configuration. In this study, we explored the potential...
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Diversity of Genetic Environment of bla(CTX-M) Genes and Antimicrobial Susceptibility in Extended-spectrum β-lactamase producing Escherichia coli Isolated in Korea

Yang YY, Suh MH

Increasing resistance due to the production of extended-spectrum β-lactamase (ESBL) in Escherichia coli is a major problem to public health and CTX-M enzymes have become the most prevalent ESBL worldwide....
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Hepatitis B Viral Surface Mutations in Patients with Adefovir Resistant Chronic Hepatitis B with A181T/V Polymerase Mutations

Kim JH, Jung YK, Joo MK, Kim JH, Yim HJ, Park JJ, Kim JS, Bak YT, Yeon JE, Byun KS

The hepatitis B virus (HBV) polymerase gene has overlapping reading frames with surface genes, which allows to alter the amino acid codon of the surface genes. In adefovir (ADV) treated...
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Site-Specific Mutagenesis in Human Cells by Bulky Exocyclic Amino-Substituted Guanine and Adenine Derivatives

Moon KY

  • KMID: 2127916
  • Cancer Res Treat.
  • 2004 Apr;36(2):151-156.
PURPOSE: 7-Bromomethylbenz[a]anthracene is a well- known mutagen and carcinogen. The aim of this study is to determine the mutagenic potency of its two major DNA adducts [N2-(benz[a]anthracen-7-ylmethyl)-2'-deoxyguanosine (b[a]a2G) and N6-(benz[a]anthracen-7-...
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Structural Characteristics of Seven IL-32 Variants

Sohn DH, Nguyen TT, Kim S, Shim S, Lee S, Lee Y, Jhun H, Azam T, Kim J, Kim S

IL-32 exists as seven mRNA transcripts that can translate into distinct individual IL-32 variants with specific protein domains. These translated protein domains of IL-32 variants code for specific functions that...
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Site-Specific Mutagenesis in Escherichia coli by Bulky Exocyclic Amino-Substituted Guanine and Adenine Derivatives in Double-Stranded or Gapped Plasmids

Moon KY

  • KMID: 1807225
  • Cancer Res Treat.
  • 2003 Feb;35(1):75-80.
PURPOSE: 7-Bromomethylbenz[alpha]anthracene is a known mutagen and carcinogen. The mutagenic potency of its two major DNA adducts, i.e., N2-(benz[alpha]anthracen-7-ylmethyl)-2'-deoxyguanosine (b[alpha]a2G) and N6-(benz[alpha]anthracen-7-ylmethyl)-2'-deoxyadenosine (b[alpha]a6A), as well as the simpler benzylated analogs,...
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Genetic Variation in the Immunoregulatory Gene of Adenovirus Type 3

Choi EH, Kim HS, Lee HJ

  • KMID: 2278925
  • Korean J Pediatr Infect Dis.
  • 2009 Dec;16(2):199-204.
PURPOSE: Various proteins encoded in the early region 3 (E3) of adenoviruses protect cells from being killed by cytotoxic T cells and death-inducing cytokines. We sought to find out whether...
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Characterization and Sequence Analysis of Helicobacter pylori Cryptic Plasmid (pHP489)

Cho MJ, Song JY, Choi YJ, Lee WK, Baik SC, Ryu BD, Choi SH, Jeon YS, Lee IG, Rhee KH

  • KMID: 2146924
  • J Korean Soc Microbiol.
  • 1998 Aug;33(4):343-352.
The DNA sequence of a plasmid named pHP489 of Helicobacter pylori strain 489 was determined and analyzed to characterize its replication apparatus. The pHP489 plasmid consisted of 1,222 bp and...
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CRISPR/Cas9-mediated generation of a Plac8 knockout mouse model

Lee H, Kim JI, Park JS, Roh JI, Lee J, Kang BC, Lee HW

Placenta specific 8 (PLAC8, also known as ONZIN) is a multi-functional protein that is highly expressed in the intestine, lung, spleen, and innate immune cells, and is involved in various...
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Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy

Lee JH, Ki CS, Kim DS, Cho JW, Park KP, Kim S

Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral...
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Loss of estrogen receptor-alpha (ER-alpha) and promoter hypermethylation in gastric cancer

Woo IS, Moon DH, Kim SH, Im SH, Lee MA, Kang JH, Hong YS, Lee KS, Choi MK, Chung IS, Park GS

  • KMID: 2252654
  • Korean J Med.
  • 2004 May;66(5):504-512.
BACKGROUND: The significance of ER expression and hormone manipulation in gastric cancer is not established. There have been several reports supporting the role of the ER gene as tumor suppressor...
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