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Detection of p53 Mutation in Gastric Cancer by Nonradioactive SSCP(mini-SSCP)

Yoo KK, Do JH, Heo CH, Moon C, Kim HJ, Lee TJ, Yoo JH, Chang JS, Lee SJ, Chang SK, Park SM

  • KMID: 2084742
  • Korean J Gastroenterol.
  • 1997 May;29(5):601-609.
BACKGROUND/AIMS: p53 mutation was reported in many studies, but conventional PCR-SSCP protocol using radiolabeled PCR primers or nucleotides to generate a radioactive PCR products is cumbersome to handle. With the...
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Validation Study for the Sex Typing Using Amelogenin

Lee SD, Lee JB, Lee YS

  • KMID: 1849255
  • Korean J Leg Med.
  • 2000 May;24(1):43-50.
The aim of this study was to validate the sex typing based on amplification of X-Y homologous Amelogenin locus in Korean including mutation rate in this locus. It was found...
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Detection of Mutations in Chronic Hepatitis B Virus under Lamivudine Treatment: Direct Sequencing and CLIP Sequencing

Park H, Kwon HL, Song SH, Park KU, Song J, Park SS, Kim EC

  • KMID: 2040480
  • J Lab Med Qual Assur.
  • 2008 Dec;30(2):285-290.
BACKGROUND: Hepatitis B Virus (HBV) is a major risk factor for hepatocellular carcinoma, and about five to six percents of people are infected with HBV in Korea. Lamivudine is a...
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Frequency of BRCA1 and BRCA2 Germline Mutations Detected by Protein Truncation Test and Cumulative Risks of Breast and Ovarian Cancer among Mutation Carriers in Japanese Breast Cancer Families

Ikeda N, Miyoshi Y, Ikeda N, Yoneda K, Kinoshita , Noguchi S

The purpose of this investigation is to study the frequency and penetrance of BRCA1 and BRCA2 germline mutations in Japanese familial breast cancer patients. Mutation analysis of BRCA1 and BRCA2...
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TGF-beta-1 Expression and p53 Mutation in Non-small Cell Carcinomas of the Lung

Kim HK, Park SH, Na YS, Kang YG, Kim YS, Han JH, Park MJ, Kim I

  • KMID: 2006794
  • J Korean Cancer Assoc.
  • 1997 Dec;29(6):1022-1031.
PURPOSE: TGF-beta-1 is actually a major growth inhibitor for most cell types. We assumed that the loss of TGF-beta-1 would be occurred during carcinogenesis of the lung. Also, the mutation...
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Forensic Application of Three Polymorphic STR Loci on Y Chromosome in Korean Males

Lee SD, Lee YS, Lee JB

  • KMID: 1928214
  • Korean J Leg Med.
  • 1998 May;22(1):13-18.
The allele frequency and mutation rate in Short Tandem Repeat loci, DYS389 and DYS390 were studied in 101 unrelated Korean males using PCR followed by high-resolution PAGE. Three alleles were...
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Estimation of the Genetic Substitution Rate of Hanwoo and Holstein Cattle Using Whole Genome Sequencing Data

Lee YS, Shin D

Despite the importance of mutation rate, some difficulties exist in estimating it. Next-generation sequencing (NGS) data yields large numbers of single-nucleotide polymorphisms, which can make it feasible to estimate substitution...
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Nucleotide Variability of Core Promoter Region in Type B Chronic Liver Diseases

Kim YS, Seo GS, Song WG, Kim HC

  • KMID: 1548528
  • Korean J Gastroenterol.
  • 1999 Nov;34(5):632-643.
BACKGROUND/AIMS: The core promoter (CP) is included in X-gene of hepatitis B virus (HBV), and is composed of a upstream regulatory sequence (URS) and a basic core promotor (BCP) which...
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Detection of embB Gene Mutation of Mycobacterium tuberculosis by Reverse Hybridization Assay

Park YK, Yu HK, Park CH, Ryu SW, Lee SH, Shim MS, Lew WJ, Koh WJ, Kwon OJ, Cho SN, Bai GH

  • KMID: 2318534
  • Tuberc Respir Dis.
  • 2005 Feb;58(2):129-134.
BACKGROUND: Ethambutol (EMB) is one of important first-line drug in the treatment of tuberculosis. Molecular techniques to detect embB gene mutations have been considered as an method to define the...
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Polymorphisms and Mutations of the Mitochondrial DNA D-loop in the Maternal Genetic Lineages

Yoon SR, Lee YJ, Park JT

  • KMID: 2172337
  • Chonnam Med J.
  • 2005 Apr;41(1):25-40.
To investigate the polymorphisms of the mitochondrial DNA (mtDNA) D-loop and the mutation rates in the maternal lineages in Koreans, the sequence of mitochondrial DNA D-loop was analyzed in the...
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BRAF mutation may predict higher necessity of postoperative radioactive iodine ablation in papillary thyroid cancer

Han SA, Park WS, Jang JH, Min SY, Ryu JK, Song JY

PURPOSE: The primary aim of the present study was to analyze the association between high-risk clinicopathologic characteristics and the BRAFV600E mutation. METHODS: From March 2010 to September 2012, we performed analysis...
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Mutations of DPC4/Smad4 Gene in Gallbladder Carcinoma

Lee KY, Kim SW, Park SJ, Park YC, Jang JY, Park YH

  • KMID: 2095969
  • J Korean Surg Soc.
  • 2002 Mar;62(3):233-242.
PURPOSE: The DPC4/Smad4 gene is known to perform a key role in the TGF-beta group protein signaling pathway, which regulates cell proliferation, differentiation and death. DPC4/ Smad4 gene mutation has...
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Mutations of the Epidermal Growth Factor Receptor Gene in Triple-Negative Breast Cancer

Kim A, Jang MH, Lee SJ, Bae YK

PURPOSE: Epidermal growth factor receptor (EGFR) is considered a potential therapeutic target for anti-EGFR therapy in triple-negative breast cancer (TNBC). However, the frequency of EGFR gene mutation in TNBC is...
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Prevalence of BRAF(V600E) Mutation in Follicular Variant of Papillary Thyroid Carcinoma and Non-Invasive Follicular Tumor with Papillary-Like Nuclear Features (NIFTP) in a BRAF(V600E) Prevalent Area

Kim H, Kim BH, Kim YK, Kim JM, Oh SY, Kim EH, Lee MJ, Kim JH, Jeon YK, Kim SS, Lee BJ, Kim YK, Kim IJ

BACKGROUND: BRAF V600E mutation status and prevalence of non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) has not yet been reported in Korea. The aim of this study was to...
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Haplotypes and mutations of 17 Y-STR loci from Korean father-son pairs

Lee HY, Chung U, Park MJ, Yoo JE, Lee HY, Shin KJ, Cho SH, Yang WI

  • KMID: 1928088
  • Korean J Leg Med.
  • 2005 Oct;29(2):163-180.
We have investigated 17 Y-STR loci (DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 (Y GATA C4), Y GATA H4) in 365 Korean...
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A Study on the p53 Mutations in Korean Breast Cancer Tissues

Baik HK, Jung PJ, Cho YH, Ko YH

  • KMID: 2175333
  • J Korean Cancer Assoc.
  • 1998 Oct;30(5):921-934.
PURPOSE: The role of mutation of p53 gene on the carcinigenesis was studied since 1991. There were some relationships of p53 mutation and clinicopathologic factors. This sutudy was designed for...
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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

Kim HN, Shin MH, Lee R, Park MH, Kweon SS

Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15–20% of hereditary...
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Web-based Y-STR Database for Haplotype Frequency Estimation and Kinship Index Calculation

Yang IS, Lee HY, Park MJ, Yang WI, Shin KJ

We developed a web-based Y chromosomal short tandem repeat (Y-STR) database (ySTRmanager, http://ystrmanager.yonsei.ac.kr) to facilitate calculation of Y-STR haplotype frequency estimates for random matches and kinship indices for various relationship...
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PIK3CA Mutations in Hepatocellular Carcinoma in Korea

Kim H, Park CK, Lee SJ, Rha SY, Park KH, Lim HY

PURPOSE: Phosphatidylinositol 3-kinases/AKT pathway plays a pivotal role in hepatocellular carcinoma (HCC). Mutant PIK3CA, encoding the p110a catalytic subunit, stimulates the AKT pathway and promotes cell growth in various cancers....
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Somatic Mutaome Profile in Human Cancer Tissues

Kim N, Hong Y, Kwon D, Yoon S

Somatic mutation is a major cause of cancer progression and varied responses of tumors against anticancer agents. Thus, we must obtain and characterize genome-wide mutational profiles in individual cancer subtypes....
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