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Bismuth-Based Quadruple Therapy versus MetronidazoleIntensified Triple Therapy as a First-Line Treatment for Clarithromycin-Resistant Helicobacter pylori Infection: A Multicenter Randomized Controlled Trial

Seo SI, Lim H, Bang CS, Yang YJ, Baik GH, Lee SP, Jang HJ, Kae SH, Kim J, Kim HY, Shin WG

Background/Aims: Clarithromycin resistance is a main factor for treatment failure in the context of Helicobacter pylori infection. However, the treatment regimen for clarithromycin-resistant H. pylori infection has not yet been determined....
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Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori

Kim SY, Park JM, Lim CH, Lee HA, Shin GY, Choe Y, Cho YK, Choi MG

Background/Aims: Point mutations in the 23S ribosomal RNA gene have been associated with Helicobacter pylori clarithromycin resistance. This study aimed to detect the prevalence of these point mutations and to...
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A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)

Moon JE, Yang HY, Wee G, ParK SH, Ko CW

Purpose: Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the CASR gene in a neonate with congenital...
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Altered Secretory Activity of APE1/Ref-1 D148E Variants Identified in Human Patients With Bladder Cancer

Lee YR, Lim JS, Shin JH, Choi S, Joo HK, Jeon BH

  • KMID: 2309837
  • Int Neurourol J.
  • 2016 May;20(Suppl 1):S30-S37.
PURPOSE: Apurinic/apyrimidinic endonuclease 1/redox factor-1 (APE1/Ref-1) is a multifunctional protein involved in DNA repair and redox modulation. Recently, serum and urinary APE1/Ref-1 levels were reported to be increased in patients...
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Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)

Kim EK, Lee JS, Cheong HI, Chung SS, Kwak SH, Park KS

Mutation in HNF1B, the hepatocyte nuclear factor-1beta (HNF-1beta) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion. However, the functional...
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Characterization of antimicrobial resistance and application of RFLP for epidemiological monitoring of thermophilic Campylobacter spp. isolated from dogs and humans in Korea

Cho HH, Kim SH, Min W, Ku BK, Kim JH, Kim YH

  • KMID: 2307875
  • Korean J Vet Res.
  • 2014 Jun;54(2):91-99.
An antimicrobial susceptibility test was conducted to compare the resistance rates among Campylobacter spp. isolates from dogs (n = 50) raised under diverse conditions and humans (n = 50). More...
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Clarithromycin-resistant Helicobacter pylori Associated with 23S rRNA Point Mutations in Jeju Island

Kim T, Song HJ, Shin SY, Kim JH, Na SY, Boo SJ, Choi EK, Cho YK, Kim HU, Song BC

BACKGROUND/AIMS: The point mutations in 23S rRNA gene accounts for the majority of the clarithromycin resistance of Helicobacter pylori. This study aimed to investigate the association between the clarithromycin-resistance of...
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Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis

Park S, Koh Y, Yoon SS

This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis. To address this issue,...
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A Novel Decorin Gene Mutation in Congenital Hereditary Stromal Dystrophy: A Korean Family

Lee JH, Ki CS, Chung ES, Chung TY

A 43-year-old man developed decreased vision in the right eye that had persisted for seven years. Under slit lamp examination, corneal clouding was noted with normal endothelium and ocular structure....
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A Comparison Analysis on the Diagnosis of Helicobacter pylori Infection and the Detection of Clarithromycin Resistance according to Biopsy Sites

Cho AR, Lee MK

BACKGROUND: This study was performed to determine the biopsy sites that are suitable for the diagnosis of Helicobacter pylori infection and to assess the sensitivity of culture, histology, and dual-priming...
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Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

Choi BO, Hwang JH, Cho EM, Jeong EH, Hyun YS, Jeon HJ, Seong KM, Cho NS, Chung KW

Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean...
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Point Mutation of Hoxd12 in Mice

Cho KW, Kim JY, Cho JW, Cho KH, Song CW, Jung HS

PURPOSE: Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is...
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Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele

Kim YS, Choi YB, Lee JH, Yang SH, Cho JH, Shin CH, Lee SD, Paik MK, Hong KM

Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of...
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A Case of Optic Neuropathy Associated with MELAS Syndrome

Lee MW, Ahn JH, Kyung SE, Lee DC

  • KMID: 2337554
  • J Korean Ophthalmol Soc.
  • 2007 Sep;48(9):1297-1302.
PURPOSE: The purpose of this case report is to describe accompanying ocular findings, especially optic neuropathy, in a patient with MELAS syndrome. METHODS: A 10-year-old male patient who had lactic acidosis...
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Analysis of RET Gene Point Mutation in a Family with Multiple Endocrine Neoplasia Type 2A

Kim SW, Lee KD, Kim JY, Moon HS, Kim YR, Park YH, Lee KS

  • KMID: 2276772
  • Korean J Otolaryngol-Head Neck Surg.
  • 2007 Jun;50(6):529-536.
BACKGROUND AND OBJECTIVES: Multiple Endocrine Neoplasia type 2A (MEN 2A) is a syndrome that encompasses medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. Since MEN 2A is inherited as autosomal dominant, early...
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The Causal Relationship between RUNX3 and Bladder Tumor

Kim EJ, Kim WJ

  • KMID: 2293832
  • Korean J Urol.
  • 2005 Nov;46(11):1192-1198.
PURPOSE: We investigated the methylation pattern of RUNX3 to determine whether aberrant methylation events are risk factors for bladder tumor development, recurrence, and progression. MATERIALS AND METHODS: A hospital based, case-control...
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Aggressive Systemic Mastocytosis Following Ovarian Germ Cell Tumor

Huh EJ, Park SY, Choi SR, Chung SY, Kang JH, Kim KM, Lee JH, Jeong DC

A 4 years-old girl was diagnosed with aggressive systemic mastocytosis at 2 months after the end of chemotherapy including cisplatin, bleomycin and etoposide for an ovarian germ cell tumor (GCT)....
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Clinical Resistance to the Tyrosine Kinase Inhibitor Imatinib (STI571) and Detection of BCR-ABL Gene Mutations in Korean Patients with Chronic Myeloid Leukemia

Sohn YH, Chi HS, Park CJ, Lee KH, Seo EJ

BACKGROUND: Imatinib mesylate, the tyrosine kinase activity of the BCR-ABL fusion gene, induces a remarkable remission in chronic myeloid leukemia (CML) patients. However, resistance to imatinib has been observed in...
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Partial Interferon-gamma Receptor Deficiency in Patients with Disseminated Tuberculosis

Hwang JH, Koh WJ, Lee SH, Kim EJ, Kang EH, Suh GY, Chung MP, Kim H, Kwon OJ

BACKGROUND: Interferon-gamma (IFN-gamma) is essential in the immune response to mycobacterial infections, and a complete or partial deficiency in the IFN-gamma receptor 1 (IFNgammaR1) or the IFN-gamma receptor 2 (IFNgammaR2)...
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Analysis of RET Gene Point Mutation in a Family with Familial Medullary Thyroid Carcinoma

Lee KD, Mun HS, Kim JY, Chung H, Choi SH, Ha NW, Uchino S

  • KMID: 2276221
  • Korean J Otolaryngol-Head Neck Surg.
  • 2004 Sep;47(9):904-910.
BACKGROUND AND OBJECTIVES: Hereditary medullary thyroid carcinoma is presented as a part of MEN2A (65-75%) or MEN2B, but can also be inherited alone, which is called familial medullary thyroid carcinoma....
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