- Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele
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Kim YS, Choi YB, Lee JH, Yang SH, Cho JH, Shin CH, Lee SD, Paik MK, Hong KM
- KMID: 756328
- Exp Mol Med.
- 2008 Jun;40(3):271-275.
- doi: 10.3858/emm.2008.40.3.271
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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- Genetic predisposition in nonalcoholic fatty liver disease
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Sookoian S, Pirola CJ
- KMID: 2412107
- Clin Mol Hepatol.
- 2017 Mar;23(1):1-12.
- doi: 10.3350/cmh.2016.0109
Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease whose prevalence has reached global epidemic proportions. Although the disease is relatively benign in the early stages, when... -
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- Recent Advances in Kawasaki Disease
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Kim KY, Kim DS
- KMID: 2466347
- Yonsei Med J.
- 2016 Jan;57(1):15-21.
- doi: 10.3349/ymj.2016.57.1.15
Kawasaki disease (KD) is characterized with acute systemic vasculitis, occurs predominantly in children between 6 months to 5 years of age. Patients with this disease recover well and the disease... -
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- The Genetic Studies of Obsessive-Compulsive Disorder and Its Future Directions
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Kim SJ, Kim CH
- KMID: 1779492
- Yonsei Med J.
- 2006 Aug;47(4):443-454.
- doi: 10.3349/ymj.2006.47.4.443
Obsessive-compulsive disorder (OCD) is characterized by recurrent and persistent thoughts (obsessions), and repetitive behaviors or mental acts (compulsions). In Korea, an epidemiological study reported that the lifetime prevalence of OCD... -
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- Strategy Considerations in Genome Cohort Construction in Korea
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Sung J, Cho SI
- KMID: 1125669
- J Prev Med Public Health.
- 2007 Mar;40(2):95-101.
- doi: 10.3961/jpmph.2007.40.2.95
Focusing on complex diseases of public health significance, strategic issues regarding the on-going Korean Genome Cohort were reviewed: target size and diseases, measurements, study design issues, and followup strategy of... -
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- Association between Alcoholism and the Genetic Polymorphisms of the GABA(A) Receptor Genes on Chromosome 5q33-34 in Korean Population
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Park CS, Park SY, Lee CS, Sohn JW, Hahn GH, Kim BJ
- KMID: 1778440
- J Korean Med Sci.
- 2006 Jun;21(3):533-538.
- doi: 10.3346/jkms.2006.21.3.533
Family, twin, and adoption studies have demonstrated that genes play an important role in the development of alcoholism. We investigated the association between alcoholism and the genetic polymorphisms of the... -
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- A Polymorphism of the Renin Gene rs6682082 Is Associated with Essential Hypertension Risk and Blood Pressure Levels in Korean Women
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Park J, Song K, Jang Y, Kim Yoon S
- KMID: 2352811
- Yonsei Med J.
- 2015 Jan;56(1):227-234.
- doi: 10.3349/ymj.2015.56.1.227
PURPOSE: The aim of the present study was to investigate associations between the renin gene (REN) and the risk of essential hypertension and blood pressure (BP) levels in Koreans. MATERIALS AND... -
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- Common interleukin 10 polymorphism associated with decreased risk of tuberculosis
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Shin HD, Park BL, Kim LH, Cheong HS, Lee IH, Park SK
- KMID: 755751
- Exp Mol Med.
- 2005 Apr;37(2):128-132.
Interleukin 10 (IL10) is a powerful TH2-cell cytokine that inhibits lymphocyte replication and secretion of inflammatory cytokines. The genetic associations of polymorphisms in IL10 with clinical manifestations of tuberculosis (TB)... -
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- Association between Glutathione S-Transferase T1, M1, and P1 Genotypes and the Risk of Colorectal Cancer
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Cong N, Liu L, Xie Y, Shao W, Song J
- KMID: 2069929
- J Korean Med Sci.
- 2014 Nov;29(11):1488-1492.
- doi: 10.3346/jkms.2014.29.11.1488
Glutathione S-transferases (GSTs) are enzymes which play an important role in the neutralization of toxic compounds and eradication of electrophilic carcinogens. Genetic polymorphisms within the genes encoding for GSTs may... -
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- Cox-2 and IL-10 Polymorphisms and Association with Squamous Cell Carcinoma of The Head and Neck in a Korean Sample
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Jeong SW, Tae K, Lee SH, Kim KR, Park CW, Park BL, Shin HD
- KMID: 1792951
- J Korean Med Sci.
- 2010 Jul;25(7):1024-1028.
- doi: 10.3346/jkms.2010.25.7.1024
Cyclooxygenase-2 (COX-2) is involved in inflammation and carcinogenesis. Interleukin-10 (IL-10) is also regarded as anti-inflammatory factors with the multi-functional ability to positively and negatively influence functional immunity and tumor development.... -
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- Alcohol Consumption, Aldehyde Dehydrogenase 2 Gene Polymorphisms, and Cardiovascular Health in Korea
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Shin MJ, Cho Y, Davey Smith G
- KMID: 2419072
- Yonsei Med J.
- 2017 Jul;58(4):689-696.
- doi: 10.3349/ymj.2017.58.4.689
Alcohol consumption is a serious health issue in Korea in terms of the amount consumed and the behavior related to its consumption. Aldehyde dehydrogenase 2 (ALDH2) is a key enzyme... -
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- VEGF Promoter Polymorphism Confers an Increased Risk of Pulmonary Arterial Hypertension in a Chinese Population
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Zhuo Y, Zeng Q, Zhang P, Li G, Xie Q, Cheng Y
- KMID: 2427118
- Yonsei Med J.
- 2017 Mar;58(2):305-311.
- doi: 10.3349/ymj.2017.58.2.305
PURPOSE: Evidence on the contribution of genes to the hereditary predisposition to pulmonary arterial hypertension (PAH) is limited. MATERIALS AND METHODS: In this study, we hypothesized that single nucleotide variants in... -
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- ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease
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Kim KY, Bae YS, Ji W, Shin D, Kim HS, Kim DS
- KMID: 2418858
- Yonsei Med J.
- 2018 Jan;59(1):119-127.
- doi: 10.3349/ymj.2018.59.1.119
PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guérin (BCG) injection sites observed in the disease are poorly understood.... -
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- Kangwha Study Association Analysis of the Essential Hypertension Susceptibility Genes in Adolescents: Kangwha Study
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Suh I, Nam CM, Kim SJ, Shin DJ, Hur NW, Kang DR
- KMID: 792406
- J Prev Med Public Health.
- 2006 Mar;39(2):177-183.
OBJECTIVES: In this study we examined the association between the genetic markers ACE (A-240T, C-93T, I/D, A2350G), AGT (M235T), AT1R (A1166C), CYP11B2 (T-344C, V386A), REN (G2646A), ADRB2 (G46A, C79G,... -
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- Trends in genotype frequency resulting from breeding for resistance to classical scrapie in Belgium (2006~2011)
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Dobly A, Van der Heyden S, Roels S
- KMID: 1482812
- J Vet Sci.
- 2013 Mar;14(1):45-51.
- doi: 10.4142/jvs.2013.14.1.45
In sheep, susceptibility to scrapie is mainly determined by codons 136, 154, and 171 of the PRNP gene. Five haplotypes are usually present (ARR, ARQ, ARH, AHQ, and VRQ). The... -
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- Identification of a genetic locus on chromosome 4q34-35 for type 2 diabetes with overweight
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Park MH, Kwak SH, Kim KJ, Go MJ, Lee HJ, Kim KS, Hwang JY, Kimm K, Cho YM, Lee HK, Park KS, Lee JY
- KMID: 2154226
- Exp Mol Med.
- 2013 Feb;45(2):e7.
The incidence of type 2 diabetes is rising rapidly because of an increase in the incidence of being overweight and obesity. Identification of genetic determinants for complex diseases, such as... -
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- Association of HLA-A, B antigens with Susceptibility to Advanced Endometriosis in Koreans
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Whang DH, Kim SH, Park MH, Choi YM
- KMID: 854838
- Korean J Lab Med.
- 2008 Apr;28(2):118-123.
- doi: 10.3343/kjlm.2008.28.2.118
BACKGROUND: Endometriosis is defined as the presence of endometrial tissue outside the uterus, causing diverse diseases, including infertility, pelvic pain, dysmenorrhea, and constipation. While there is a growing body... -
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- Meta-analysis of the correlation between the rs17401966 polymorphism in kinesin family member 1B and susceptibility to hepatitis B virus related hepatocellular carcinoma
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Su M, Guo J, Huang J
- KMID: 2413117
- Clin Mol Hepatol.
- 2017 Jun;23(2):138-146.
- doi: 10.3350/cmh.2016.0083
BACKGROUND/AIMS: The association between the kinesin family member 1B (KIF1B) gene polymorphism and the risk of hepatitis B virus-related hepatocellular carcinoma (HCC) has been investigated in many peer-reviewed studies. However,... -
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- Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea
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Kim KW, Lee JH, Lee MG, Kim KH, Sohn MH, Kim KE
- KMID: 1779639
- Yonsei Med J.
- 2010 Nov;51(6):912-917.
- doi: 10.3349/ymj.2010.51.6.912
PURPOSE: Classic cystic fibrosis is now known part of cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders. These include a wide spectrum, from multi-system disorders, such as cystic fibrosis, to mono-symptomatic... -
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- Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism
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Zheng X, Ma SG, Guo ML, Qiu YL, Yang LX
- KMID: 2419100
- Yonsei Med J.
- 2017 Jul;58(4):888-890.
- doi: 10.3349/ymj.2017.58.4.888
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism... -
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