- The cis-AB01 Allele Originated From the A105 Allele, and not From the A102 Allele
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Yang SJ, Won EJ, Cho D, Shin MG, Ryang DW
- KMID: 2363197
- Ann Lab Med.
- 2015 Mar;35(2):279-280.
- doi: 10.3343/alm.2015.35.2.279
No abstract available. -
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- PNPLA3 rs738409 Polymorphism Associated with Hepatic Steatosis and Advanced Fibrosis in Patients with Chronic Hepatitis C Virus: A Meta-Analysis
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Fan JH, Xiang MQ, Li QL, Shi HT, Guo JJ
- KMID: 2411974
- Gut Liver.
- 2016 May;10(3):456-463.
- doi: 10.5009/gnl15261
BACKGROUND/AIMS: The recognition of a correlation between patatin-like phospholipase domain containing-protein 3 (PNPLA3) rs738409 (C>G) and the severity of liver steatosis or fibrosis in chronic hepatitis C (CHC) has not... -
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- Filaggrin Mutation in Korean Patients with Atopic Dermatitis
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On HR, Lee SE, Kim SE, Hong WJ, Kim HJ, Nomura T, Suzuki S, Shimizu H, Kim SC
- KMID: 2427129
- Yonsei Med J.
- 2017 Mar;58(2):395-400.
- doi: 10.3349/ymj.2017.58.2.395
PURPOSE: Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Mutations in the filaggrin gene (FLG) are major predisposing factors for AD. Ethnic differences exist between Asian and... -
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- Screening of Dihydropyrimidine Dehydrogenase Genetic Variants by Direct Sequencing in Different Ethnic Groups
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Shin JG, Cheong HS, Kim JY, Kim LH, Han CS, Kim JO, Kim HD, Kim YH, Chung MW, Han SY, Shin HD
- KMID: 1793015
- J Korean Med Sci.
- 2013 Aug;28(8):1129-1133.
- doi: 10.3346/jkms.2013.28.8.1129
Dihydropyrimidine dehydrogenase (DPYD) is an enzyme that regulates the rate-limiting step in pyrimidine metabolism, especially catabolism of fluorouracil, a chemotherapeutic agent for cancer. In order to determine the genetic distribution... -
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- Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria
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Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, Lee YK, Kim SH, Kim JW, Ki CS
- KMID: 1104807
- Exp Mol Med.
- 2008 Oct;40(5):533-540.
- doi: 10.3858/emm.2008.40.5.533
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH; EC 1.14.16.1). Point mutations in the PAH gene are known to cause... -
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- Comprehensive Variant Screening of the UGT Gene Family
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Kim JY, Cheong HS, Park BL, Kim LH, Namgoong S, Kim JO, Kim HD, Kim YH, Chung MW, Han SY, Shin HD
- KMID: 1779911
- Yonsei Med J.
- 2014 Jan;55(1):232-239.
- doi: 10.3349/ymj.2014.55.1.232
PURPOSE: UGT1A1, UGT2B7, and UGT2B15 are well-known pharmacogenes that belong to the uridine diphosphate glucuronyltransferase gene family. For personalized drug treatment, it is important to study differences in the frequency... -
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- Novel Mutations in the UNC13D Gene Carried by a Chinese Neonate with Hemophagocytic Lymphohistiocytosis
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Chen Y, Wang Z, Cheng Y, Tang Y
- KMID: 2158245
- Yonsei Med J.
- 2013 Jul;54(4):1053-1057.
- doi: 10.3349/ymj.2013.54.4.1053
Hemophagocytic lymphohistiocytosis (HLH) in different ethnicities has been described in the literature, but few cases in patients of Chinese descent have been reported. Here, we describe the case of a... -
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- IL-10 Polymorphisms and Tuberculosis Susceptibility: An Updated Meta-Analysis
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Ke Z, Yuan L, Ma J, Zhang X, Guo Y, Xiong H
- KMID: 2163619
- Yonsei Med J.
- 2015 Sep;56(5):1274-1287.
- doi: 10.3349/ymj.2015.56.5.1274
PURPOSE: The association of interleukin-10 (IL-10) polymorphisms (-1082G/A, -819C/T, -592A/C) and interleukin-6 (IL-6) poly-morphisms (-174G/C) with tuberculosis (TB) risk has been widely reported. However, the results are controversial. To clarify... -
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- No Evidence of an Association between A218C Polymorphism of the Tryptophan Hydroxylase 1 Gene and Aggression in Schizophrenia in a Korean Population
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Kim YR, Lee JY, Min SK
- KMID: 1779602
- Yonsei Med J.
- 2010 Jan;51(1):27-32.
- doi: 10.3349/ymj.2010.51.1.27
PURPOSE: We investigated the association between the tryptohan hydroxylase 1 (TPH1) gene and aggression in schizophrenia in a Korean population. MATERIALS AND METHODS: The sample included 61 aggressive patients as... -
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- Duffy Blood Group Genotyping in Thai Blood Donors
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Nathalang , Intharanut K, Siriphanthong K, Nathalang , Kupatawintu P
- KMID: 2363265
- Ann Lab Med.
- 2015 Nov;35(6):618-623.
- doi: 10.3343/alm.2015.35.6.618
BACKGROUND: Duffy (FY) blood group genotyping is important in transfusion medicine because Duffy alloantibodies are associated with delayed hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. In... -
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- Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
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Jang MA, Lee T, Lee J, Cho EH, Ki CS
- KMID: 2363211
- Ann Lab Med.
- 2015 May;35(3):362-365.
- doi: 10.3343/alm.2015.35.3.362
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including... -
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- Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
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Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH
- KMID: 1792968
- J Korean Med Sci.
- 2010 Jul;25(7):1105-1108.
- doi: 10.3346/jkms.2010.25.7.1105
Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors... -
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- GSTM1, GSTT1 and GSTP1 Polymorphisms in the Korean Population
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Cho HJ, Lee SY, Ki CS, Kim JW
- KMID: 2157771
- J Korean Med Sci.
- 2005 Dec;20(6):1089-1092.
- doi: 10.3346/jkms.2005.20.6.1089
The isoenzymes of the glutathione s transferase (GST) family play a vital role in phase II of biotransformation of many substances. Using a multiplex polymerase chain reaction and a direct... -
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- Polymorphism of a COLIA1 Gene Sp1 Binding Site in Korean Women with Pelvic Organ Prolapse
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Cho HJ, Jung HJ, Kim SK, Choi JR, Cho NH, Bai SW
- KMID: 1758618
- Yonsei Med J.
- 2009 Aug;50(4):564-568.
- doi: 10.3349/ymj.2009.50.4.564
PURPOSE: To evaluate the possible influence of G-->T substitution at the Sp1-binding site of the COLIA1 gene on the risk of pelvic organ prolapse (POP). MATERIALS AND METHODS: The study... -
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- Estrogen receptor 1, Glutathione S-transferase P1, Glutathione S-transferase M1, and Glutathione S-transferase T1 Genes with Dysmenorrhea in Korean Female Adolescents
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Woo HY, Kim KH, Lim SW
- KMID: 1096823
- Korean J Lab Med.
- 2010 Feb;30(1):76-83.
- doi: 10.3343/kjlm.2010.30.1.76
BACKGROUND: Dysmenorrhea is the most common gynecologic complaint among adolescent females. We investigated the association between genetic polymorphisms and dysmenorrhea. METHODS: A total of 202 postmenarcheal Korean female adolescents 16-17... -
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- Hepatocyte nuclear factor 1-alpha mutation in normal glucose-tolerant subjects and early-onset type 2 diabetic patients
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Lim DM, Huh N, Park KY
- KMID: 1100763
- Korean J Intern Med.
- 2008 Dec;23(4):165-169.
- doi: 10.3904/kjim.2008.23.4.165
BACKGROUND/AIMS: The prevalence of diabetes in Korea is reported to be approximately 10%, but cases of maturity-onset diabetes of the young (MODY) are rare in Korea. A diagnostic technique... -
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- Persistent α-Fetoprotein Elevation in Healthy Adults and Mutational Analysis of α-Fetoprotein Promoter, Enhancer, and Silencer Regions
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Jeon Y, Choi YS, Jang ES, Kim JW, Jeong SH
- KMID: 2412165
- Gut Liver.
- 2017 Jan;11(1):136-141.
- doi: 10.5009/gnl16069
BACKGROUND/AIMS: α-Fetoprotein (AFP) is normally 1 year, and 20 controls with low AFP levels ( -
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- Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
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Jang MA, Lee CW, Kim JK, Ki CS
- KMID: 2363269
- Ann Lab Med.
- 2015 Nov;35(6):639-642.
- doi: 10.3343/alm.2015.35.6.639
Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family... -
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- Influence of Transforming Growth Factor-beta1 Gene Polymorphism at Codon 10 on the Development of Cirrhosis in Chronic Hepatitis B Virus Carriers
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Yu SK, Kwon OS, Jung HS, Bae KS, Kwon KA, Kim YK, Kim YS, Kim JH
- KMID: 1792926
- J Korean Med Sci.
- 2010 Apr;25(4):564-569.
- doi: 10.3346/jkms.2010.25.4.564
Transforming growth factor (TGF)-beta1 is a key cytokine producing extracellular matrix. We evaluated the effect of TGF-beta1 gene polymorphism at codon 10 on the development of cirrhosis in patients with... -
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- Long QT Syndrome: a Korean Single Center Study
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Lee YS, Kwon BS, Kim GB, Oh SI, Bae EJ, Park SS, Noh CI
- KMID: 1777681
- J Korean Med Sci.
- 2013 Oct;28(10):1454-1460.
- doi: 10.3346/jkms.2013.28.10.1454
The long QT syndrome (LQTS) is a rare hereditary disorder in which affected individuals have a possibility of ventricular tachyarrhythmia and sudden cardiac death. We investigated 62 LQTS (QTc >... -
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