- Polymorphism of the Ciliary Neurotrophic Factor (CNTF) Gene in Korean
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Takahashi , Kim SI, Lee YH
- KMID: 1917146
- Korean J Phys Anthropol.
- 2003 Jun;16(2):73-78.
Ciliary neurotrophic factor (CNTF) is one of the important factors in neuronal survival. Mutation in CNTF gene was found first in Japanese. We analyzed the CNTF genotype of 187 healthy... -
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- Effect of Taekwondo Training on Physical Fitness and Growth Index According to IGF-1 Gene Polymorphism in Children
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Lee B, Kim K
- KMID: 2285577
- Korean J Physiol Pharmacol.
- 2015 Jul;19(4):341-347.
- doi: 10.4196/kjpp.2015.19.4.341
This study analyzed the effect of regular Taekwondo training for 16 weeks on physical fitness and growth index depending on different IGF-1 gene polymorphisms. The subjects of the study were... -
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- Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote
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Lee JY, Kim M
- KMID: 1700747
- J Clin Neurol.
- 2006 Jun;2(2):137-140.
- doi: 10.3988/jcn.2006.2.2.137
Hyperhomocysteinemia associated with methylene terahydrofolate reductase (MTHFR) mutation can be a risk factor for idiopathic cerebral venous thrombosis. We describe the first case of MTHFR 677TT homozygote with cerebral venous... -
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- A Family with -D- Phenotype Associated with Fatal Hemolytic Disease of the Newborn
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Han KS, Kim HC, Shim WS, Yoon MS, Joo KW, Hahn KS, Han BY
- KMID: 1932279
- Korean J Blood Transfus.
- 1995 Dec;6(2):201-206.
-D- is a very rare haplotype which determines D without C, c, E or e and exalted D activity. The extremely rare homozygote propositi(-D-/-D-) are usually ascertained through their immune... -
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- Genetic Polymorphisms of Cytochrome P450 2C19 in Functional Dyspeptic Patients Treated with Cimetidine
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Kim M, Kong E
- KMID: 1493967
- Korean J Physiol Pharmacol.
- 2012 Oct;16(5):339-342.
- doi: 10.4196/kjpp.2012.16.5.339
Inter-individual pharmacokinetic variation of H2-receptor antagonist is related to genetic polymorphism of CYP2C19. We investigated the frequency of CYP2C19 genetic polymorphism and the treatment duration of cimetidine by CYP2C19 genotypes... -
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- Cytotoxic T Lymphocyte Antigen-4 (CTla-4) Polymorphism in Korean Autoimmune Thyroid Disease
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Lee DK, Kim YS, Woo JT, Kim SW, Yang IM, Kim JW, Choi YK, Paeng JR
- KMID: 2331134
- J Korean Soc Endocrinol.
- 1999 Mar;14(1):40-52.
BACKGROUND: The cause of autoimmune thyroid diseases (AITD), including Graves disease and Hashimotos thyroiditis, is largely unknown. To identify the genes responsible, most attention has been focussed on the HLA... -
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- Identification of HLA-B*5001 in Korean Population
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Kim HC, Yang IH, Kim SY, Park SY, Chung SY, Yu HJ, Han H, Lee HJ
- KMID: 2072509
- Korean J Pediatr Hematol Oncol.
- 2001 Oct;8(2):323-330.
PURPOSE: HLA (human leukocyte antigen)-class I genes are highly polymorphic, play many roles in organ and bone marrow transplantation. HLA-B is the most polymorphic class I locus with 414... -
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- A Case of 17a-Hydroxylase Deficiency in 17-Year-Old Girl
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Park KY, Park KL, Rhee JH
- KMID: 2461610
- J Korean Soc Endocrinol.
- 1996 Mar;11(1):102-107.
The single enzyme P-450c17 hydroxylase catalyzes the 17a-hydroxylation of both pregnenolone and progesterone and the side-chain cleavage of 17a-hydroxypregnenolone and 17a-hydroxypro- gesterone to dehydroepiandrosterone and androstenedione. This enzyme is located... -
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- The Property of p53 Gene in Cell Lines of Squamous Cell Carcinoma
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Jin Y, Moon YS, Jeong HS, Jang SI, Choi IJ
- KMID: 2224509
- Korean J Anat.
- 2004 Jun;37(3):293-299.
The mutation of p53 tumor suppressor gene is the most common genetic variation of primary malignant tumors. The occurrence, progression and reaction for medical management of cancers can be different... -
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- Rapid and efficient identification of the mouse leptin receptor mutation (C57BL/KsJ-db/db) by tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) analysis
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Jung H, Nam H, Suh JG
- KMID: 2312156
- Lab Anim Res.
- 2016 Mar;32(1):70-73.
- doi: 10.5625/lar.2016.32.1.70
The C57BLKS/J-Lepr(db) mouse has a point mutation in the leptin receptor gene and is one of the most useful animal model for non-insulin dependent diabetes mellitus in human. Since the... -
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- A Case of Familial Hypercholesterolemia with Diabetes Mellitus
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Sohn YK, Chang KY, Lee KH, Tockgo YC
- KMID: 1554070
- J Korean Pediatr Soc.
- 1997 Jun;40(6):862-866.
Familial Hypercholesterolemia is the most common hyperlipoproteinemia during the childhood, which occurs from the mutation of genes that regulates low-density lipoproteins (LDL), and is classified into two types, the homozygote... -
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- Association between Toll-Like Receptor 9-1237T/C Polymorphism and the Susceptibility of Inflammatory Bowel Diseases: A Meta-Analysis
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Shang J, Wang X, Wang W, Pan H, Liu S, Li L, Chen L, Xia B
- KMID: 2466365
- Yonsei Med J.
- 2016 Jan;57(1):153-164.
- doi: 10.3349/ymj.2016.57.1.153
PURPOSE: The -1237T/C polymorphism of the Toll-like receptor 9 (TLR9) gene has been implicated in the susceptibility of inflammatory bowel diseases (IBDs), but the results remain conflicting. We further investigated... -
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- Relationship between Alcohol Withdrawal Symptoms and Dopaminergic Gene Polymorphisms(DRD2, DAT, COMT) in Alcohol Dependence Patients
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Choi TY, Kim HN, Han DH, Min KJ, Lee YS, Na C
- KMID: 1511826
- Korean J Biol Psychiatry.
- 2006 Aug;13(3):178-190.
with DAT-9 gene allele. And The total score of CIWA-Ar scale in the subject without DAT-9 gene allele was significantly higher than in the subject with DAT-9 gene allele.... -
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- Polymorphisms in 5-HT1Dbeta Receptor Gene and Personality Traits in a Korean Population
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Kim SJ, Kim CH, Choi NK, Hong HJ, Kim SJ, Cho DY, Lee HS
- KMID: 2195799
- J Korean Neuropsychiatr Assoc.
- 2005 Mar;44(2):185-190.
OBJECTIVES: Recently, there has been a growing enthusiasm in biological approach to personality; the identification of genes responsible for particular personality traits. The aim of this study was to investigate... -
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- Two-Phalanged Fifth Toe in Korean
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Park HB, Sohn HJ
- KMID: 2283060
- Korean J Phys Anthropol.
- 1998 Jun;11(1):1-10.
Except for the hallux, the human toes classically present three phalanges, distal, middle and proximal. However in 5th toe, only two phalanges are frequently observed. In this condition, known as... -
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- High-Resolution Melting Analysis for Genotyping Duffy Blood Group Antigens
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Lim CS, Kim KH, Chung S, Kim YH, Choi JY, Kim IT
- KMID: 1424268
- Korean J Blood Transfus.
- 2013 Apr;24(1):71-78.
BACKGROUND: Accurate typing of Duffy blood group is important because anti-Duffy antibodies cause hemolytic transfusion reaction and hemolytic disease of the newborn. The aim of this study was to evaluate... -
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- Variation of the promoter of apolipoprotein C-III with hyperlipidemic patients
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Chon S, Ko KP, Park CY, Oh SJ, Woo JT, Kim SW, Kim JW, Kim YS
- KMID: 2306058
- Korean J Med.
- 2003 Mar;64(3):293-302.
BACKGROUND: Hypertriglyceridemia and hypercholesterolemia have been associated with atherosclerosis, myocaridal infarction, and premature death. However, the causes of hyperlipidemia are not well understood. Variations in apolipoprotein C-III (apo C-III) are... -
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- Brain-derived Neurotrophic Factor(BDNF) SNP 6265 Polymorphisms in Febrile Seizure and GEFS+
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Kim SE, Kim HG, Kim YH, Choi BJ, Hwang HS, Bin JH, Chung SY, Lee IG
- KMID: 2329400
- J Korean Child Neurol Soc.
- 2008 Nov;16(2):114-120.
PURPOSE: Febrile seizure(FS) is one of the most common neurological conditions during childhood, but the pathogenesis of FS remains ambiguous. Various studies have shown that brain-derived neurotrophic factor(BDNF) increased neuronal... -
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- Gene Frequencies of Human Neutrophil Antigens 4a and 5a in the Korean Population
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Han TH, Han KS
- KMID: 2238901
- Korean J Lab Med.
- 2006 Apr;26(2):114-118.
- doi: 10.3343/kjlm.2006.26.2.114
BACKGROUND: In Korean population, antigen frequencies of HNA-1a, HNA-1b, and HNA-2a are determined using a serological and genotyping method. However, no study has been done to assess the gene frequencies... -
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- The Relationship between Platelet Glycoprotein III a Polymorphism and Acute Coronary Syndrome in Koreans
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Kim KI, Chae IH, Kim HS, Sohn DW, Oh BH, Lee MM, Park YB, Choi YS, Lee YW
- KMID: 2229087
- Korean Circ J.
- 1998 May;28(5):723-729.
- doi: 10.4070/kcj.1998.28.5.723
BACKGROUND: Platelet plays an important role in the pathogenesis of acute coronary syndrome. Platelet glycoprotein IIb III a is the receptor for fibrinogen, and it plays an important role in... -
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