- The Association of SERPINE2 Gene with COPD in a Chinese Han Population
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Wang A, Yin Y, Chen P, Liu Q, Yu Q, Xiao W
- KMID: 1058815
- Yonsei Med J.
- 2011 Nov;52(6):953-960.
- doi: 10.3349/ymj.2011.52.6.953
PURPOSE: Polymorphisms of several candidate genes have been studied and associated with the development of chronic obstructive pulmonary disease (COPD). One such candidate is the SERPINE2 (Serpin peptidase inhibitor, clade... -
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- Novel insertion mutation of ABCB1 gene in an ivermectin-sensitive Border Collie
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Han JI, Son HW, Park SC, Na KJ
- KMID: 1072184
- J Vet Sci.
- 2010 Dec;11(4):341-344.
- doi: 10.4142/jvs.2010.11.4.341
P-glycoprotein (P-gp) is encoded by the ABCB1 gene and acts as an efflux pump for xenobiotics. In the Border Collie, a nonsense mutation caused by a 4-base pair deletion in... -
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- Association between interleukin 6 promoter variants and chronic hepatitis B progression
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Park BL, Lee HS, Kim YJ, Kim JY, Jung JH, Kim LH, Shin HD
- KMID: 1097254
- Exp Mol Med.
- 2003 Apr;35(2):76-82.
Interleukin 6 (IL6) plays an essential role in the regulation of immune response to chronic disease. In this study, the three known single nucleotide polymorphisms (SNPs) in the IL6 promoter... -
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- EGFR Polymorphism as a Predictor of Clinical Outcome in Advanced Lung Cancer Patients Treated with EGFR-TKI
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Jung M, Cho BC, Lee CH, Park HS, Kang YA, Kim SK, Chang J, Kim DJ, Rha SY, Kim JH, Lee JH
- KMID: 1414254
- Yonsei Med J.
- 2012 Nov;53(6):1128-1135.
- doi: 10.3349/ymj.2012.53.6.1128
PURPOSE: Mutations in the epidermal growth factor receptor (EGFR) have been confirmed as predictors of the efficacy of treatment with EGFR-tyrosine kinase inhibitors (TKIs). We investigated whether polymorphisms of the... -
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- Clinicopathological Features of Rare BRAF Mutations in Korean Thyroid Cancer Patients
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Cho U, Oh WJ, Bae JS, Lee S, Lee YS, Park GS, Lee YS, Jung CK
- KMID: 2129598
- J Korean Med Sci.
- 2014 Aug;29(8):1054-1060.
- doi: 10.3346/jkms.2014.29.8.1054
The most common BRAF mutation in thyroid cancer is c.1799T>A (p.Val600Glu), and other BRAF mutations are rarely reported. We investigated the clinicopathological features of thyroid cancer with rare BRAF mutations.... -
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- Association of TNFA Promoter Region Haplotype in Behcet's Disease
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Park KS, Kim NY, Nam JH, Bang D, Lee ES
- KMID: 2157807
- J Korean Med Sci.
- 2006 Aug;21(4):596-601.
- doi: 10.3346/jkms.2006.21.4.596
Although the etiology of Behcet's Disease (BD; MIM 109650) remains to be clearly elucidated, levels of tumor necrosis factor alpha (TNF-alpha) have been reported to be significantly elevated in BD... -
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- Lack of Toll-like Receptor 4 and 2 Polymorphisms in Korean Patients with Bacteremia
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Yoon HJ, Choi JY, Kim CO, Park YS, Kim MS, Kim YK, Shin SY, Kim JM, Song YG
- KMID: 1713104
- J Korean Med Sci.
- 2006 Dec;21(6):979-982.
- doi: 10.3346/jkms.2006.21.6.979
Toll-like receptors (TLRs) are pattern-recognition receptors that are important in innate immune responses to bacterial infection. The purpose of this study is to describe the prevalence of TLRs genetic variations... -
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- Association between CDH13 Variants and Cardiometabolic and Vascular Phenotypes in a Korean Population
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Lee JH, Shin DJ, Park S, Kang SM, Jang Y, Lee SH
- KMID: 1798124
- Yonsei Med J.
- 2013 Nov;54(6):1305-1312.
- doi: 10.3349/ymj.2013.54.6.1305
PURPOSE: Although some CDH13 single nucleotide polymorphisms (SNPs) have been shown to be determinants of blood adiponectin levels, the clinical implications of CDH13 variants are not yet completely understood. The... -
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- Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis
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Na SJ, Lee JH, Kim SW, Kim DS, Shon EH, Park HJ, Shin HY, Kim SM, Choi YC
- KMID: 2068675
- Yonsei Med J.
- 2014 May;55(3):660-668.
- doi: 10.3349/ymj.2014.55.3.660
PURPOSE: The underlying cause of myasthenia gravis (MG) is unknown, although it likely involves a genetic component. However, no common genetic variants have been unequivocally linked to autoimmune MG. We... -
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- Interactive Effect of Smoking and NQO1 Haplotypes on Lung Cancer Risk
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Kim JH, Hong YC
- KMID: 2133296
- J Korean Med Sci.
- 2015 Mar;30(3):221-226.
- doi: 10.3346/jkms.2015.30.3.221
The role of genetic polymorphisms of NAD(P)H:quinone oxidoreductase 1 (NQO1), which is known to be related to carcinogen metabolism and oxidative status, was evaluated for lung cancer development. The genotypes... -
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- Genetic association of the EGR2 gene with bipolar disorder in Korea
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Kim SH, Song JY, Joo EJ, Lee KY, Shin SY, Lee YH, Ahn YM, Kim YS
- KMID: 1120130
- Exp Mol Med.
- 2012 Feb;44(2):121-129.
- doi: 10.3858/emm.2012.44.2.007
The early growth response gene 2 (EGR2) is located at chromosome 10q21, one of the susceptibility loci in bipolar disorder (BD). EGR2 is involved in cognitive function, myelination, and signal... -
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- Secreted Phosphoprotein 1 Promoter Genetic Variants Are Associated with the Response to Pegylated Interferon alpha Plus Ribavirin Combination Therapy in Egyptian Patients with Chronic Hepatitis C Virus Infection
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Ali FT, Ali MA, Elgizawy M, Elsawy AM
- KMID: 2160636
- Gut Liver.
- 2015 Jul;9(4):516-524.
- doi: 10.5009/gnl14162
BACKGROUND/AIMS: The T-helper 1 (TH1) immune reaction is essential for the eradication of hepatitis C virus (HCV) during pegylated interferon alpha (PEG-IFN-alpha)- and ribavirin (RBV)-based therapy in chronic HCV patients.... -
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- GSTM1 and GSTP1 Polymorphisms as Potential Factors for Modifying the Effect of Smoking on Inflammatory Response
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Kim JH, Park SG, Lee KH, Choi JH, Ha EH, Myung SK, Hong YC
- KMID: 1713112
- J Korean Med Sci.
- 2006 Dec;21(6):1021-1027.
- doi: 10.3346/jkms.2006.21.6.1021
Inflammation has been known to be an important underlying condition for development of various diseases including cancer. The aims of this study were to investigate whether tobacco smoke exposure increases... -
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- The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene
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Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH
- KMID: 1713200
- J Korean Med Sci.
- 2007 Apr;22(2):352-356.
- doi: 10.3346/jkms.2007.22.2.352
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features.... -
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- Association of the Adiponectin Gene Variations with Risk of Ischemic Stroke in a Korean Population
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Cheong MY, Bang OS, Cha MH, Park YK, Kim SH, Kim YJ
- KMID: 1106432
- Yonsei Med J.
- 2011 Jan;52(1):20-25.
- doi: 10.3349/ymj.2011.52.1.20
PURPOSE: Stroke is the second leading cause of death and a major cause of morbidity and mortality worldwide. Evidence of variations in adiponectin(AdipoQ) genes that are associated with ischemic stroke... -
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- Association between Promoter Polymorphisms of TFF1, TFF2, and TFF3 and the Risk of Gastric and Diffuse Gastric Cancers in a Korean Population
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Jin EH, Lee SI, Kim J, Seo EY, Lee SY, Hur GM, Shin S, Hong JH
- KMID: 2164496
- J Korean Med Sci.
- 2015 Aug;30(8):1035-1041.
- doi: 10.3346/jkms.2015.30.8.1035
Gastric cancer is one of the most common cancers in the world. The aims of this study were to evaluate the association between polymorphisms in TFF gene family, TFF1, TFF2,... -
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- APOE Polymorphism Is Associated with C-reactive Protein Levels but Not with White Blood Cell Count: Dong-gu Study and Namwon Study
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Yun YW, Kweon SS, Choi JS, Rhee JA, Lee YH, Nam HS, Jeong SK, Park KS, Ryu SY, Choi SW, Kim HN, Cauley JA, Shin MH
- KMID: 2164468
- J Korean Med Sci.
- 2015 Jul;30(7):860-865.
- doi: 10.3346/jkms.2015.30.7.860
We evaluated the association of the APOE polymorphism with serum C-reactive protein levels and white blood cell count in two large population-based studies in Korean. The datasets included the Dong-gu... -
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- TP53 Mutations in Korean Patients with Non-small Cell Lung Cancer
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Lee EB, Jin G, Lee SY, Park JY, Kim MJ, Choi JE, Jeon HS, Cha SI, Cho S, Kim CH, Park TI, Jung TH, Son JW, Park JY
- KMID: 1713952
- J Korean Med Sci.
- 2010 May;25(5):698-705.
- doi: 10.3346/jkms.2010.25.5.698
Although TP53 mutations have been widely studied in lung cancer, the majority of studies have focused on exons 5-8 of the gene. In addition, TP53 mutations in Korean patients with... -
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- Association of the GSTP1 and NQO1 Polymorphisms and Head and Neck Squamous Cell Carcinoma Risk
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Cho CG, Lee SK, Nam SY, Lee MS, Lee SW, Choi EK, Park HJ, Kim SY
- KMID: 1713122
- J Korean Med Sci.
- 2006 Dec;21(6):1075-1079.
- doi: 10.3346/jkms.2006.21.6.1075
The GSTP1 and NQO1 have been reported to be associated with an increased risk for smoking related head and neck squamous cell carcinoma (HNSCC). The purpose of this study was... -
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