- Cerebral Venous Sinus Thrombosis with MTHFR C677T Heterozygous Mutation
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Chae S, Yun DM, Lim SM, Jang SH
- KMID: 2535869
- J Korean Neurol Assoc.
- 2022 Oct;40(4):307-310.
- doi: 10.17340/jkna.2022.4.3
Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases the level of homocysteine. MTHFR C677T gene polymorphism has been reported as a well-known cause of elevated homocysteine level associated with... -
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- Methylenetetrahydrofolate Reductase Polymorphisms and Risk of Recurrent Pregnancy Loss: a Case-Control Study
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Hwang KR, Choi YM, Kim JJ, Lee SK, Yang KM, Paik EC, Jeong HJ, Jun JK, Yoon SH, Hong MA
- KMID: 2396382
- J Korean Med Sci.
- 2017 Dec;32(12):2029-2034.
- doi: 10.3346/jkms.2017.32.12.2029
The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then... -
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- Comparison of Blueberry (Vaccinium spp.) and Vitamin C via Antioxidative and Epigenetic Effects in Human
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Kim M, Na H, Kasai H, Kawai K, Li YS, Yang M
- KMID: 2396166
- J Cancer Prev.
- 2017 Sep;22(3):174-181.
- doi: 10.15430/JCP.2017.22.3.174
BACKGROUND: Chemopreventive effects and the underlying mechanisms of blueberry (Vaccinium spp.) are not clearly understood in human. We hypothesized blueberry would work via antioxidative and epigenetic modulation, which is similar... -
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- Hyper-homocysteinemia Inducing Hyperuricemia: What are the Mechanisms?
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Cacciapuoti F
- KMID: 2385338
- J Rheum Dis.
- 2017 Jun;24(3):127-130.
- doi: 10.4078/jrd.2017.24.3.127
Hyperuricemia is related to metabolic syndrome, and is defined as an over-production or under-excretion of uric acid (UA), with increased UA serum concentration. Among other causes, Hyper-homocysteinemia (H-Hcy) can be... -
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- Potential Risk Factors Associated With Vascular Diseases in Patients Receiving Treatment for Hypertension
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Kim H, Park J, Chae H, Lee GD, Lee SY, Lee JM, Oh YS, Kim M, Kim Y
- KMID: 2373530
- Ann Lab Med.
- 2016 May;36(3):215-222.
- doi: 10.3343/alm.2016.36.3.215
BACKGROUND: Currently, the hypertension (HTN) patients undergo appropriate medical treatment, and traditional risk factors are highly controlled. Therefore, potential risk factors of atherosclerotic vascular diseases (AVD) and venous thromboembolisms (VTE)... -
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- A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene
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Ahn JY, Choi MS, Lee JH, Park SK
- KMID: 2164191
- Korean J Perinatol.
- 2015 Dec;26(4):348-351.
- doi: 10.14734/kjp.2015.26.4.348
C677T mutation in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia in vivo and is known to be one of the causes of perinatal ischemic stroke. As MTHFR plays... -
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- Influence of Methylenetetrahydrofolate Reductase C677T Polymorphism on the Risk of Lung Cancer and the Clinical Response to Platinum-Based Chemotherapy for Advanced Non-Small Cell Lung Cancer: An Updated Meta-Analysis
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Zhu N, Gong Y, He J, Xia J, Chen X
- KMID: 1798134
- Yonsei Med J.
- 2013 Nov;54(6):1384-1393.
- doi: 10.3349/ymj.2013.54.6.1384
PURPOSE: Methylenetetrahydrofolate reductase (MTHFR) has been implicated in lung cancer risk and response to platinum-based chemotherapy in advanced non-small cell lung cancer (NSCLC). However, the results are controversial. We performed... -
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- Livedoid Vasculopathy with Hyperhomocysteinemia due to MTHFR Mutation
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Jeon IK, Kim BK, Lee HJ, Hong H, Choi EH
- KMID: 1427490
- Korean J Dermatol.
- 2013 Apr;51(4):276-279.
Livedoid vasculopathy is a hyalinizing vascular disease characterized by thrombosis and ulceration of the lower extremities. It can be caused by an alteration in control of coagulation with the formation... -
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- Relationship between Metabolic Syndrome and MTHFR Polymorphism in Colorectal Cancer
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Kang BS, Ahn DH, Kim NK, Kim JW
- KMID: 2101567
- J Korean Soc Coloproctol.
- 2011 Apr;27(2):78-82.
- doi: 10.3393/jksc.2011.27.2.78
PURPOSE: There have been studies on the relations between metabolic syndrome and colorectal cancer or on the relations between methylenetetrahydrofolate reductase (MTHFR) polymorphism and colorectal cancer, but reports on the... -
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- MTHFR C677T Polymorphism as a Risk Factor for Vascular Calcification in Chronic Hemodialysis Patients
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Lee SY, Kim HY, Park KM, Lee SY, Hong SG, Kim HJ, Yang DH
- KMID: 2157890
- J Korean Med Sci.
- 2011 Mar;26(3):461-465.
- doi: 10.3346/jkms.2011.26.3.461
Polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T is one of the suggested risk factors for atherosclerosis. However, few studies have reported on the relationship between MTHFR C677T polymorphism and vascular calcification... -
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- Polymorphisms of 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T) and Methionine Synthase Reductase (MTRR A66G) as Maternal Risk Factors for Fetal Aneuploidy
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Kim DJ, Kim SY, Park SY, Kim JW, Kim MY, Han JY, Yang JH, Ahn HK, Choi JS, Chung JH, Ryu HM
- KMID: 2184456
- J Genet Med.
- 2008 Dec;5(2):119-124.
PURPOSE: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of... -
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- Polymorphism of the 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Gene and Microsatellite Instability (MSI) in Mucinous Colorectal Cancer
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Kim HS, Kang BS, Kim JW, Ahn DH, Bae SJ, Kim NG
- KMID: 2198871
- J Korean Soc Coloproctol.
- 2008 Oct;24(5):329-336.
- doi: 10.3393/jksc.2008.24.5.329
PURPOSE: Generally, a mucinous carcinoma (Muc) of the colon show higher rates of microsatellite instability (MSI) than a non-mucinous carcinoma (non-Muc). Mutated methylenetetrahydrofolate reductase (MTHFR) brings about low enzyme activity,... -
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- Association of Methylenetetrahydrofolate Reductase C677T, A1298C, and G1793A Polymorphism and the Risk of Colon Cancer
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Kang DB, Rhee JK, Park WC
- KMID: 2101454
- J Korean Soc Coloproctol.
- 2008 Aug;24(4):239-245.
- doi: 10.3393/jksc.2008.24.4.239
PURPOSE: Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme regulating folate level, which affects DNA synthesis and methylation. MTHFR is highly polymorphic, and its variant genotypes result in decreased MTHFR enzyme... -
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- The Relationships between Homocysteine, Folate, MTHER and TSER Polymorphism for Osteoporotic Compression Fracture in Postmenopausal Women
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Shin DE, Cho DY, Yoon HK, Kim NG, Lee IS
- KMID: 2186475
- J Korean Orthop Assoc.
- 2007 Oct;42(5):665-670.
- doi: 10.4055/jkoa.2007.42.5.665
PURPOSE: To analyze the relationships between homocysteine, folate, MTHFR and TSER polymorphism for postmenopausal women with osteoporotic compression fractures. MATERIALS AND METHODS: Forty-three postmenopausal compression fracture patients and as many... -
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- The Effect of the MTHFR C677T Single Nucleotide Polymorphism on Plasma Homocysteine Lowering Therapy with Vitamins in the Ischemic Stroke Patients
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Song HS, Cho KH, Park SM, Kim JS, Kang DW, Cho AH, Jeon SB, Kim HJ, Kwon SU
- KMID: 2343252
- J Korean Neurol Assoc.
- 2007 Aug;25(3):332-337.
BACKGROUND: C677T single nucleotide polymorphism (SNP) of Methylentetrahydrofolate reductase (MTHFR) has been known to be associated with plasma homocysteine (Hcy) levels, which is an independent risk factor for stroke. However,... -
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- Genetic Analysis of TGFA, MTHFR, and IFR6 in Korean Patients Affected by Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P)
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Park JY, Yoo HW, Kim Y
- KMID: 2166256
- Genomics Inform.
- 2007 Jun;5(2):56-60.
Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial birth defect that is the result of a mixture of genetic and environmental factors. While studies have... -
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- The Effect of Folic Acid to the Level of Homocysteine and Analysis of the Factors in Epilepsy Patients
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Koo YH, Oh SH, Kim NK, Bae SJ, Kim OJ
- KMID: 1510303
- J Korean Epilepsy Soc.
- 2007 Jun;11(1):33-39.
BACKGROUND: Folic acid has been frequently used for hyperhomocyesteinemia in various diseases and decreases the level of homocysteine. OBJECTIVES: To assess the effect of folic acid in the level of... -
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- Association of genetic polymorphisms in the peroxisome proliferator-activated receptor-gamma and methylenetetrahydrofolate reductase with preeclampsia in Korean women
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Lee SH, Park BH, Park MH, Park H, Chun SH, Ahn JJ, Ryu HM, Lee KS, Park HY, Kim YJ
- KMID: 2273112
- Korean J Obstet Gynecol.
- 2007 Apr;50(4):601-611.
OBJECTIVE: To investigate whether polymorphisms of genes encoding peroxisome proliferator-activated receptor-gamma (PPAR gamma) and methylenetetrahydrofolate reductase (MTHFR) are associated with preeclmapsia in Korean women and also to demonstrate whether there... -
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- Influence of Combined Methionine Synthase (MTR 2756A > G) and Methylenetetrahydrofolate Reductase (MTHFR 677C > T) Polymorphisms to Plasma Homocysteine Levels in Korean Patients with Ischemic Stroke
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Kim OJ, Hong SP, Ahn JY, Hong SH, Hwang TS, Kim SO, Yoo W, Oh D, Kim NK
- KMID: 1779521
- Yonsei Med J.
- 2007 Apr;48(2):201-209.
- doi: 10.3349/ymj.2007.48.2.201
PURPOSE: Methionine synthase (MTR) and 5,10-methylenetetrahydrofolate reductase (MTHFR) are the main regulatory enzymes for homocysteine metabolism. The present case- control study was conducted to determine whether there is an association... -
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- The Study of 5,10-Methylenetetrahydrofolate Reductase Polymorphism and Its Effect on Pregnancy Outcomes among the Korean Population
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Kim A, Kang EJ, Lee KA, Park SN, Park JS, Park BH, Park H, Park MH, Chun SH, Ahn JJ, Pang MG, Kim YJ
- KMID: 2280582
- Korean J Perinatol.
- 2006 Sep;17(3):294-303.
OBJECTIVE: The purpose of this study was to analyze MTHFR polymorphism among the Korean population and to evaluate the relationship between serum levels of homocysteine and MTHFR polymorphism and also... -
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