Relevant bibliographies by topics / MTHFR

Academic literature on the topic 'MTHFR'

Author: Grafiati
Published: 4 June 2021
Last updated: 10 March 2023

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Journal articles on the topic "MTHFR"

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Thompson, Henry R., Gayle M. Jones, and Michael R. Narkewicz. "Ontogeny of hepatic enzymes involved in serine- and folate-dependent one-carbon metabolism in rabbits." American Journal of Physiology-Gastrointestinal and Liver Physiology 280, no. 5 (May 1, 2001): G873—G878. http://dx.doi.org/10.1152/ajpgi.2001.280.5.g873.

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Serine occupies a central position in folate-dependent, one-carbon metabolism through 5,10-methylenetetrahydrofolate (MTHF) and 5-formyltetrahydrofolate (FTHF). We characterized the ontogeny of the specific activity of key enzymes involved in serine, 5,10-MTHF, and 5-FTHF metabolism: methenyltetrahydrofolate synthetase (MTHFS), MTHF reductase (MTHFR), the glycine cleavage system (GCS), methionine synthase (MS), and serine hydroxymethyltransferase (SHMT) in rabbit liver, placenta, brain, and kidney. In liver, MTHFS activity is low in the fetus (0.36 ± 0.07 nmol · min−1 · mg protein−1), peaks at 3 wk (1.48 ± 0.50 nmol · min−1 · mg protein−1), and then decreases to adult levels (1.13 ± 0.32 nmol · min−1 · mg protein−1). MTHFR activity is highest early in gestation (24.9 ± 2.4 nmol · h−1 · mg protein−1) and declines rapidly by birth (4.7 ± 1.3 nmol · h−1 · mg protein−1). MS is highest during fetal life and declines after birth. Cytosolic SHMT activity does not vary during development, but mitochondrial SHMT peaks at 23 days. GCS activity is high in the fetus and the neonate, declining after weaning. In placenta and brain, all activities are low throughout gestation. Cytosolic and mitochondrial SHMT activities are low in kidney and rise after weaning, whereas MTHFS is low throughout development. These data suggest that the liver is the primary site of activity for these enzymes. Throughout development, there are multiple potential sources for production of 5,10-MTHF, but early in gestation high MTHFR activity and low MTHFS activity could reduce 5,10-MTHF availability.
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Elsadig Babiker, Nihad. "Detection of Mthfr (C667t) and Mthfd (G1958a) Polymorphisms Among Sudanese Women with The Recurrent Miscarriages." Archives of Gynaecology and Women Health 1, no. 1 (February 6, 2023): 01–04. http://dx.doi.org/10.58489/2836-497x/006.

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Background Recurrent pregnancy loss affects 1 to 5% of women trying to conceive, I t has a significant impact at individual and social level. Methodology case-control study conducted at the research laboratory of the national center of neurological sciences, Khartoum, Sudan. All patients attending Ibrahim Malik teaching hospital and diagnosed with recurrent spontaneous abortion were included as case and healthy women at reproductive age were included as controls. The DNA was isolated by standard phenol chloroform extraction method, The PCR was done by using commercial thermal cycler machine with specific protocol. PCR products were sent for sequencing to Macro gene Europe Laboratory. Results 494 bp of MTHFR(C677T) and 174 bp of MTHFD (rs2236225) (G19581A) alleles were detected after PCR. The PCR result of MTHFR(C677T) shows; 40 (90%) forMTHFR (C677T) allele was positive in the cases and only12 (24 %) were positive for the control group. For MTHFD (G19581A) allele 42 (95%) were positive in the case group and 14 (28%) were positive in the control. When compared between case and control there was highly significant differences. The sequencing results for MTHFR C677; single Base Exchange was found C>T in the case groups, when used the mutation taster software the mutation was predicted. For MTHFD (G1958A) in the case group tow single Base Exchange were found T>A and G>A, the mutation taster software was predicted T>A mutation. Conclusion According to this result the MTHF polymorphisms might become one of the main causes of unexplained diagnosis women with recurrent spontaneous abortion
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Cole, Leslie, Alina Cernasev, Katie Webb, Santosh Kumar, and A. Shaun Rowe. "A Study of the MTHFR Gene Prevalence in a Rural Tennessee Opioid Use Disorder Treatment Center Population." International Journal of Environmental Research and Public Health 19, no. 6 (March 10, 2022): 3255. http://dx.doi.org/10.3390/ijerph19063255.

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Background: Opioid Use Disorder (OUD) has been linked to dopamine and the neurological reward centers. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in the production of many neurotransmitters such as dopamine. As such, MTHFR variants that lead to decreased production of neurotransmitters may play a role in OUD. However, lacunae exist for characterizing the prevalence of the MTHFR mutations in an OUD population. The objective of this study was to determine prevalence of the MTHFR gene mutations in a rural Tennessean population with OUD. Methods: This study was a retrospective cohort of individuals with OUD that evaluated the prevalence of MTHFR variants. Patients were categorized as normal, homozygous C677T, heterozygous C677T, homozygous A1298C, or heterozygous A1298C. The primary outcome was a qualitative comparison of the prevalence of each of the MTHFR variants in our cohort to the publicly reported MTHR polymorphism prevalence. Secondary outcomes include race and ethnicity differences as well as stimulant use differences for each of the variants. Results: A total of 232 patients undergoing care for opioid use disorder were included in the study. Of those included, 30 patients had a normal MTHFR allele and 202 had a variant MTHFR allele. Overall, the prevalence of any MTHFR variant was 87.1% (95% CI 82.6–91.4%). When comparing those with a normal MTHFR allele to those with any MTHFR variant, there was no difference in age, sex, race and ethnicity, or stimulant use. Conclusion: The overall prevalence of MTHFR variants in patients with opioid use disorders is high.
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Karagur, Ege, Mustafa Alay, Aydin Demiray, Nedim Karagenc, Onur Tokgün, Taner Durak, and Hakan Akca. "The impact of hereditary thrombophilias in recurrent pregnancy loss." Genetika 54, no. 3 (2022): 1399–410. http://dx.doi.org/10.2298/gensr2203399k.

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Introduction: Recurrent pregnancy loss (RPL) is defined as two or more consecutive pregnancy loss which occurs before the 20th weeks of pregnancies for the last menstrual period. Hereditary cause of thrombophilic gene mutations and polymorphism may play an essential role in RPLs. Material and Method: 291 women with a history of two or more consecutive abortions as a study group and 61 women without the history of miscarriages as a control group were included in a study. In this study we analysed the effects of Factor II Prothrombin mutation ,FV Leiden mutation, MTHFR C677T, MTHFT A1298C, PAI-1, ?-fibrinogen, Factor XIIIA (V34L) and Glycoprotein IIIa (L33P) polymorphisms on RPL by using pyrosequencing. Chi-square and multiple regression analysis were used for statistical analysis. Results: FII prothrombin mutation, FV Leiden mutation, MTHFR C677T, MTHFR A1298C, PAI1 and Beta fibrinogen were found statistically significant in the chi-square test. Heterozygous FV G1691A (OR:8.092, CI: 1.280-51.165), homozygous MTHFR A1298C (OR:17.621, CI: 3.644 - 85.203), Heterozygous MTHFR C677T (OR: 2.921 CI: 0.811-10.515), Homozygous MTHFR C677T (OR: 3.619 CI: 1.647-7.954), heterozygous MTHFR A1298C (OR: 5.989, CI: 2.574-13.934), homozygous PAI1 (OR: 8.756, CI: 2.805 -27.334), heterozygous PAI1 ( OR: 7.114, CI: 3.145- 16.096) homozygous FibrinogenG455A (4.085, CI: 1.438-11.610) were found statistically significant in logistic regression analysis for RPL(p<0.05). Discussion: This study indicated that there is a significant association between thrombophilias and RPL. Therefore, it is important to detect thrombophilic mutations in RPL.
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Marosi, Krisztina, Annamária Ágota, Veronika Végh, József Gábor Joó, Zoltán Langmár, Ildikó †Kriszbacher, and Zsolt B. Nagy. "The role of homocysteine and methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase polymorphisms in the development of cardiovascular diseases and hypertension." Orvosi Hetilap 153, no. 12 (March 2012): 445–53. http://dx.doi.org/10.1556/oh.2012.29326.

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Cardiovascular diseases (CVDs) are the leading causes of death in the developed countries. Elevated homocysteine level is as an independent risk factor of CVDs. The C677T and A1298C variants of methylenetetrahydrofolate reductase gene (MTHFR) have been shown to influence folate and homocysteine metabolisms. However, the relationship between MTHFR polymorphisms and hyperhomocysteinemia has not been well established yet. The gene variants were also reported to be associated with CVDs. In addition, the C677T polymorphisms may play a role in the development of hypertension. Recent research evidence has suggested that MTHFR variants might be independently linked to CVDs and hypertension, because of the involvement of the MTHFR enzyme product (5-methyl-tetrahydrofolate /5-MTHF) in the regulation of endothelial functions. Further research is required to investigate the association between gene polymorphisms of folate-metabolizing enzymes and CVDs, and to identify the possible role of the relevant gene variants in the molecular pathogenesis of hyperhomocysteinemia. Orv. Hetil., 2012, 153, 445–453.
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Liu, Zhiping, Hong Jiang, Justin H. Townsend, and Jianhua Wang. "Effects of Ocufolin on retinal microvasculature in patients with mild non-proliferative diabetic retinopathy carrying polymorphisms of the MTHFR gene." BMJ Open Diabetes Research & Care 9, no. 1 (September 2021): e002327. http://dx.doi.org/10.1136/bmjdrc-2021-002327.

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IntroductionTo evaluate effects of Ocufolin on retinal microvasculature in mild non-proliferative diabetic retinopathy patients who carried methylenetetrahydrofolate reductase (MTHFR) polymorphisms (DR+MTHFRP).Research design and methodsThis is a prospective cohort study. Eight DR+MTHFRP (administrated Ocufolin for 6 months) and 15 normal controls (NCs) were recruited. MTHFR polymorphisms were subtyped as normal, C677T, or A1298C. Best-corrected visual acuity (BCVA) was evaluated. Retinal vessel density (VD) and microstructure were evaluated by optical coherence tomography angiography.ResultsBCVA and vascular indices of DR+MTHFRP at baseline were worse than those of NC and improved. Compared with baseline, DR+MTHFRP had significantly improved BCVA during follow-up period (p<0.05). VD of superficial vascular plexus was increased at 4 months (p=0.012), while VD of retinal vascular network did not change (p>0.05). Carriers of A1298C and C677T showed statistically significant increase in VD at all layers by 6 months, while carriers of C677T alone showed no significant change and carriers of A1298C alone showed decreased density from 4 months to 6 months. Microstructure did not change during the follow-up period.ConclusionA 6-month intake of Ocufolin is capable of reversing structural changes of microangiopathy in mild non-proliferative DR+MTHFRP. This suggests a novel way to address these impairments prior to catastrophic vision loss.
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Lu, Mong-Liang, Wei-Chi Ku, Nailis Syifa, Shu-Chin Hu, Chia-Te Chou, Yi-Hsio Wu, Po-Hsiu Kuo, Chun-Hsin Chen, Wei J. Chen, and Tzu-Hua Wu. "Developing a Sensitive Platform to Measure 5-Methyltetrahydrofolate in Subjects with MTHFR and PON1 Gene Polymorphisms." Nutrients 14, no. 16 (August 13, 2022): 3320. http://dx.doi.org/10.3390/nu14163320.

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Inadequate levels of 5-methyltetrahydrofolate (5-MTHF) and the T variant of MTHFR C677T have been suggested to be associated with an increased risk of developing mental illness, whereas the PON1 SNP variant provides a protective role. However, reports validating the methodology for plasma 5-MTHF levels in schizophrenia patients are limited. A sensitive LC–MS/MS system using an amide column and calibration curve was determined by dialyzed human plasma, and applied to schizophrenia patients and healthy controls in Taiwan, and the differences between the subgroups were discussed. This analysis system meets regulation criteria, and the lower limit of quantification for 5-MTHF levels was 4 nM from 200 μL plasma, within 7 min. The mean plasma 5-MTHF levels in schizophrenia patients (n = 34; 11.70 ± 10.37 nM) were lower than those in the healthy controls (n = 42; 22.67 ± 11.12 nM) significantly (p < 0.01). 5-MTHF concentrations were significantly lower in male carriers than in female carriers (18.30 ± 10.37 nM vs. 24.83 ± 11.01 nM, p < 0.05), especially in subjects who were MTHFR CT/PON1 Q allele carriers. In conclusion, this quantitative system, which employed sensitive and simple processing methods, was successfully applied, and identified that schizophrenic patients had significantly lower levels of 5-MTHF. Lower plasma 5-MTHF concentrations were observed in male subjects.
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Tsaousidou, Maria M. K. T., Fotis F. I. G. Girtovitis, Afroditi A. K. Boutou, Elefteria E. P. Pithara, and Pantelis M. E. P. Makris. "Appliance of the DNA-Micro Array Technique for the Identification of Patients with Thrombophilic Diathesis. I-Comparison to the Classic PCR Analysis." Blood 104, no. 11 (November 16, 2004): 4049. http://dx.doi.org/10.1182/blood.v104.11.4049.4049.

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Abstract Introduction: DNA Micro array have the ability to test a large number of samples for a large number of mutations on the same time, something practically impossible with the traditional hybridization methods. The goal of this study is to compare the ability of DNA micro array application to recognize genetic predisposition to thrombosis, with the one of RLF-PCR. Material: DNA samples from 37 subjects (24 male with mean age 41.9 and 13 female with mean age 38.8) were studied both with micro arrays and PCR analysis. All of these subjects had a history of either recurrent thrombosis or thrombosis at unusual sites (e.g. retina’s central vein thrombosis). Method: The thrombo-check microarray contains the following mutations and polymorphisms: Factor V Leiden (FV G1691A), FII G20210A (prothrombin mutation), FV Cambridge (FV G1091C), MTHFR C677T, MTHFR A1298C, CBS 844ins68, Plasminogen Activator Inhibitor (PAI 1 4G/5G). The thrombo-check microarray can distinguish between the normal sequence, as well as heterozygosity and homozygosity for the mutated sequence. To ensure the result is correct specific probes are included on the microarray to control for the RLF-PCR reaction, the hybridization reaction and the silver staining procedure. In addition, the correct functioning of the entire reaction can be checked using an external control DNA. Results: As long as FVL and FII are concerned, in 35 out of 37 patients (pts) both methods gave similar results. However, the results of DNA analysis were different for the other two patients. The first one was found to be, using the micro array DNA method, a double heterozygous carrier of both FVL and FII mutations, while RLF-PCR did not relieve any such genetic defects. The other patient was found to be, using the RLF-PCR a homozygous carrier for the prothrombin mutation, while micro array also revealed heterozygous mutation of FV Leiden. Moreover, the micro array method detected totally 1 patient with FVC, 4 pts homozygous for MTHFR1, 6 pts homozygous for PAI and 4 pts homozygous for MTHFR2 mutation. Further more, micro array detected the co-existence of FVL and homozygocity in a) FII mutation (2 pts), b) PAI mutation (1patient) and c) MTHFR2 (2pts). Finally, 1 patient with FII was found to be also homozygous for MTHFR1 mutation.
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Simonian, Rebecca, Emanuela Pannia, Rola Hammoud, Xiucheng Cui, Ruslan Kubant, Brandi Wasek, Terry Bottiglieri, James Dowling, Ramil Noche, and G. Harvey Anderson. "Methylenetetrahydrofolate Reductase Deficiency Reduces Brain Microglia in Zebrafish During Embryonic Development and Is Not Corrected by Folic Acid." Current Developments in Nutrition 5, Supplement_2 (June 2021): 925. http://dx.doi.org/10.1093/cdn/nzab049_038.

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Abstract Objectives Neuronal development and function is dependent on the interaction between the central nervous system and immune system. Microglia are resident macrophages of the brain critical for regulating neuronal activity during embryonic development. 5-methyltetrahydrofolate (5MTHF), the bioactive folate form, is essential for fetal brain development and immune function. Common variants in methylenetetrahydrofolate reductase (MTHFR), required for conversion of folic acid (FA) to 5-MTHF, limits its production. High dose FA supplementation is recommended but high FA may have the converse effect of reducing MTHFR activity. The objective of this study was to determine the effects of mthfr deficiency and its interaction with FA during embryonic development on microglia in a zebrafish model. Methods The mthfr gene in zebrafish was disrupted using two CRISPR mutagenesis methods. A set of 4 guide RNAs (gRNAs) + cas9 protein or cas9 alone (control) were injected to assay F0 zebrafish, or 2 gRNAs + cas9 mRNA were used to induce a germline mutation. To visualize macrophages at 4 days post fertilization (dpf) in live zebrafish, the transgenic mpeg1: mcherry line was used. In a subset of embryos, FA was added at 0, 50, 75, or 100- μM from 0–4dpf. At 4dpf, live neutral red staining for microglia was performed and the number in the optic tectum was quantified. 5MTHF, s-adenosylmethionine (SAM) and s-adenosylhomocysteine (SAH) were assayed in whole zebrafish at 5dpf. Results In vivo imaging revealed a reduction in macrophage number (∼30%, P &lt; 0.001) in the head region of mthfr disrupted zebrafish, but not in the periphery. mthfr zebrafish also had less microglia compared to controls (15%, P &lt; 0.001). These changes were associated with lower 5MTHF (90%, P &lt; 0.0001) and SAM: SAH (∼50%, P &lt; 0.001) at 5dpf indicative of lower methylation potential. Exposure with FA did not correct the phenotype and at 100µM FA, control zebrafish also showed a decrease in microglia similar to mthfr zebrafish, confirming inhibitory effects of the high FA dose. Conclusions mthfr deficiency reduces microglia in zebrafish but supplementation with FA does not prevent and may exacerbate the negative effects. The 5MTHF form of folate may be a better alternative to FA for brain health in patients with underlying genetic conditions. Funding Sources Supported by CIHR-INMD.
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Devlin, Angela M., Erland Arning, Teodoro Bottiglieri, Frank M. Faraci, Rima Rozen, and Steven R. Lentz. "Effect of Mthfr genotype on diet-induced hyperhomocysteinemia and vascular function in mice." Blood 103, no. 7 (April 1, 2004): 2624–29. http://dx.doi.org/10.1182/blood-2003-09-3078.

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Abstract Deficiency of methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia and vascular disease. We tested the hypothesis that heterozygous disruption of the Mthfr gene sensitizes mice to diet-induced hyperhomocysteinemia and endothelial dysfunction. Mthfr+/- and Mthfr+/+ mice were fed 1 of 4 diets: control, high methionine (HM), low folate (LF), or high methionine/low folate (HM/LF). Plasma total homocysteine (tHcy) was higher with the LF and HM/LF diets than the control (P &lt; .01) or HM (P &lt; .05) diets, and Mthfr+/- mice had higher tHcy than Mthfr+/+ mice (P &lt; .05). With the control diet, the S-adenosylmethionine (SAM) to S-adenosylhomocysteine (SAH) ratio was lower in the liver and brain of Mthfr+/- mice than Mthfr+/+ mice (P &lt; .05). SAM/SAH ratios decreased further in Mthfr+/+ or Mthfr+/- mice fed LF or LF/HM diets (P &lt; .05). In cerebral arterioles, endothelium-dependent dilation to 1 or 10 μM acetylcholine was markedly and selectively impaired with the HM/LF diet compared with the control diet for both Mthfr+/+ (maximum dilation 5% ± 2% versus 21% ± 4%; P &lt; .01) and Mthfr+/- (6% ± 2% versus 21% ± 3%; P &lt; .01) mice. These findings demonstrate that the Mthfr+/- genotype sensitizes mice to diet-induced hyperhomocysteinemia and that hyperhomocysteinemia alters tissue methylation capacity and impairs endothelial function in cerebral microvessels.
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Dissertations / Theses on the topic "MTHFR"

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Roy, Marc André 1981. "Investigation of MTHFR in birth defects : pharmacogenetic studies with valproic acid and MTHFR promoter analyses." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101801.

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Valproic acid (VPA) during pregnancy leads to congenital anomalies, possibly by disrupting folate metabolism. Mild deficiency of methylenetetrahydrofolate reductase (MTHFR), an enzyme of folate-dependent homocysteine metabolism, is common due to a polymorphism at bp 677, and may influence response to VPA. To examine interactions between VPA and MTHFR in vivo and in vitro, VPA-induced teratogenicity was studied in Mthfr -deficient mice, and the effects of VPA on MTHFR expression in HepG2 cells were investigated. Mthfr+/+ and Mthfr+/- pregnant mice were injected with VPA on gestational day 8.5; resorption rates and occurrence of neural tube defects (NTDs) were examined on gestational day 14.5. MTHFR expression in HepG2 cells was studied by promoter assays, quantitative RT-PCR and Western analysis. Mthfr+/+ mice had increased resorption rates (36%) after VPA treatment, compared to saline treatment (10%), whereas resorption rates were similar with Mthfr+/- mice with the 2 treatments (25-27%). NTDs were only observed in one group (VPA-treated Mthfr+/+). VPA increased activity of both MTHFR promoters (1.8- and 3.5-fold), and levels of MTHFR mRNA and protein (2.5- and 3.7-fold, respectively) in HepG2 cells. Consistent with MTHFR upregulation in vitro, plasma homocysteine decreased in mice one hour after VPA injection. VPA increases MTHFR expression and may have lower teratogenicity in MTHFR deficiency. These phenomena underscore the importance of folate interconversion in VPA teratogenicity.
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SILVA, A. B. "Associação do carcinoma epidermóide oral com os polimorfismos MTHFR C677T, MTHFR A1298C e CBS 844ins68 na população do Espírito Santo." Universidade Federal do Espírito Santo, 2013. http://repositorio.ufes.br/handle/10/4473.

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Made available in DSpace on 2016-08-29T15:34:31Z (GMT). No. of bitstreams: 1 tese_6794_Dissertação_Andressa Barboza da Silva_2013.pdf: 634531 bytes, checksum: f623a59614835cfff443aac5c940974b (MD5) Previous issue date: 2013-09-18
Associação do carcinoma epidermóide oral com os polimorfismos MTHFR C677T, MTHFR A1298C e CBS 844ins68 na população do Espírito Santo
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Матлай, Ольга Іванівна, Ольга Ивановна Матлай, and Olha Ivanivna Matlai. "Зв'язок алельного поліморфізму гена метилентетрагідрофолатредуктази (MTHFR) з розвитком ішемічних інсультів." Thesis, Вид-во СумДУ, 2015. http://essuir.sumdu.edu.ua/handle/123456789/42758.

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Дисертація присвячена виявленню впливу генетичних чинників (однонуклеотидних поліморфізмів С677Т та А1298С гена метилентетрагідро-фолатредуктази (MTHFR)) на розвиток ішемічного атеротромботичного інсульту (ІАТІ). Встановлено частоти алелів і генотипів поліморфних варіантів С677Т та А1298С гена MTHFR у представників української популяції і вперше досліджено їх асоціацію з ішемічним атеротромботичним інсультом. З’ясовано, що існує зв'язок між ішемічним атеротромботичним інсультом і С677Т та А1298С поліморфними варіантами гена MTHFR. Ризик ІАТІ у гомозигот за мінорним алелем (Т/Т і С/С) за вивченими поліморфізмами вищий, ніж у носіїв інших генотипів (Р = 0,044; Р = 0,039). В осіб з генотипом С/С за А1298С поліморфізмом ІАТІ виникає у 2,3 раза частіше, ніж у носіїв основного алеля (Р = 0,027; OR = 2,309). Виявлено, що вплив генетичного чинника на розвиток цереброваскулярної патології має статеві особливості. Особи чоловічої статі з генотипом С/Т за С677Т поліморфізмом гена MTHFR в 2,3 раза стійкіші до ІАТІ, ніж хворі з генотипом С/С (Р = 0,010; OR = 0,433). У чоловіків-гомозигот за мінорним алелем (С/С) за А1298С поліморфізмом ризик розвитку ІАТІ в 3,5 раза вищий, ніж у носіїв генотипу А/А (Р = 0,016; OR = 3,474). Вивчено зв'язок досліджених поліморфізмів з деякими факторами ризику ІАТІ: індексом маси тіла (ІМТ), артеріальною гіпертензією, курінням. Виявлено, що гомозиготи за мінорним алелем (поліморфізм А1298С) з ІМТ ≥ 25 кг/м² у 3,2 раза більш схильні до ІАТІ, ніж гомозиготи за основним алелем (Р = 0,013, OR = 3,195). В осіб з нормальним артеріальним тиском – носіїв Т/Т-генотипу, у пацієнтів з гіпертензією з генотипом С/С за С677Т поліморфним варіантом гена MTHFR, а також у гетерозигот А/С з гіпертензією (А1298С поліморфізм) ішемічний атеротромботичний інсульт виникає частіше (P = 0,039; P = 0,010 та P = 0,025 відповідно). Ризик розвитку ІАТІ більший у групі осіб, що не палять, з генотипом Т/Т за поліморфізмом С677Т (Р = 0,029). Установлено вплив С677Т та А1298С поліморфних варіантів гена MTHFR на характеристики ІАТІ. У гомозигот за основним алелем С/С (поліморфізм С677Т) з нормальною масою тіла частіше ураження зазнають вертебральні та базилярна артерії (Р = 0,026). В осіб з генотипом С/С за поліморфним варіантом С677Т з нормальним артеріальним тиском розвивається переважно легкий ступінь тяжкості перебігу хвороби (Р = 0,021). Гомозиготи С/С за А1298С поліморфізмом чоловічої статі більш схильні до повторних інсультів (Р = 0,041).
Диссертация посвящена выявлению влияния генетических факторов (однонуклеотидных полиморфизмов С677Т и А1298С гена метилентетрагидро-фолатредуктазы (MTHFR)) на развитие ишемического атеротромботического инсульта (ИАТИ). Установлено частоты аллелей и генотипов полиморфных вариантов С677Т и А1298С гена MTHFR у представителей украинской популяции и впервые исследованы их ассоциации с ишемическим атеротромботическим инсультом. Установлено, что существует связь между ишемическим атеротромботическим инсультом, с одной стороны, и С677Т и А1298С полиморфными вариантами гена MTHFR, с другой. Риск ИАТИ у гомозигот по минорному аллелю (Т/Т и С/С) по изученным полиморфизмам выше, чем у носителей других генотипов (Р = 0,044; Р = 0,039). У лиц с генотипом С/С по А1298С полиморфизму ИАТИ возникает в 2,3 раза чаще, чем у носителей основного аллеля (Р = 0,027; OR = 2,309). Выявлено, что влияние генетического фактора на развитие цереброваскулярной патологии имеет половые особенности. Лица мужского пола с генотипом С/Т по С677Т полиморфизму гена MTHFR в 2,3 раза более стойки к ИАТИ, чем больные с генотипом С/С (Р = 0,010; OR = 0,433). У мужчин-гомозигот по минорному аллелю (С/С) по А1298С полиморфизму риск развития ИАТИ в 3,5 раза выше, чем у носителей генотипа А/А (Р = 0,016; OR = 3,474). Изучена связь исследованных полиморфизмов с некоторыми факторами риска ИАТИ: индексом массы тела (ИМТ), артериальной гипертензией, курением. Выявлено, что гомозиготы по минорному аллелю (полиморфизм А1298С) с ИМТ ≥ 25 кг/м² в 3,2 раза более подвержены ИАТИ, чем гомозиготы по основному аллелю (Р = 0,013, OR = 3,195). У лиц с нормальным артериальным давлением - носителей Т/Т-генотипа, у пациентов с гипертензией с генотипом С/С по С677Т полиморфному варианту гена MTHFR, а также у гетерозигот А/С с гипертензией (А1298С полиморфизм) ишемический атеротромботический инсульт возникает чаще (P = 0,039; P = 0,010 и P = 0,025 соответственно). Риск развития ИАТИ больше в группе лиц с генотипом Т/Т по полиморфизму С677Т, которые не курят (Р = 0,029). Установлено влияние С677Т и А1298С полиморфных вариантов гена MTHFR на характеристики ИАТИ. У гомозигот по основному аллелю С/С (полиморфизм С677Т) с нормальной массой тела чаще поражению подвергаются вертебральные и базилярная артерии (Р = 0,026). У лиц с генотипом С/С по полиморфному варианту С677Т с нормальным артериальным давлением развивается легкая степень тяжести болезни (Р = 0,021). Гомозиготы С/С по А1298С полиморфизму мужского пола более склонны к повторным инсультам (Р = 0,041).
Dissertation is devoted to revealing the influence of genetic factors (SNPs C677T and A1298C gene methylenetetrahydrofolatereductase (MTHFR)) on the development of atherothrombotic ischemic stroke. The frequency of allele and genotype polymorphisms C677T and A1298C MTHFR gene from representatives of the Ukrainian population, and for the first time their association with atherothrombotic ischemic stroke was investigated. It was established that there is a relationship between atherothrombotic ischemic stroke and C677T and A1298C polymorphic variants of the gene MTHFR. Risk of atherothrombotic ischemic stroke homozygotes for the minor allele (T/T and C/C) of the studied polymorphisms is higher than that of the carriers of other genotypes (P = 0,044; P = 0,039). In patients with genotype C/C of A1298C polymorphism atherothrombotic ischemic stroke occurs 2,3 more frequently than that in the main allele carriers (P = 0,027; OR = 2,309). It was found that the influence of genetic factors on the development of cerebrovascular disease has sexual features. Males with genotype C/T polymorphism of C677T MTHFR gene is 2,3 times more resistant to atherothrombotic ischemic stroke than in patients with genotype C/C (P = 0,010; OR = 0,433). Men-minor allele homozygotes (C/C) at the risk of A1298C polymorphism atherothrombotic ischemic stroke is 3,5 times higher than that of genotype A/A (P = 0,016; OR = 3,474). The relationship between studied polymorphisms with some risk factors ATIS: body mass index (BMI), hypertension, smoking. It was revealed that homozygotes for the minor allele (polymorphism A1298C) with a BMI ≥ 25 kg/m² are 3,2 times more prone to atherothrombotic ischemic stroke I than homozygotes for the main allele (P = 0,013; OR = 3,195). In individuals with normal blood pressure - the carriers of T/T genotype in hypertensive patients with genotype C/C for C677T polymorphic variant of the gene MTHFR, as well as in the heterozygote A/C with hypertension (A1298C polymorphism) ischemic atherothrombotic stroke occurs more frequently (P = 0,039; P = 0,010 and P = 0,025 respectively). The risk of atherothrombotic ischemic stroke is greater in the group with genotype T/T polymorphism C677T who do not smoke (Р = 0,029). The effect of the C677T and A1298C polymorphisms of MTHFR gene on the characteristics of atherothrombotic ischemic stroke is established. At the main allele homozygotes for the C/C (C677T polymorphism) with normal body weight often defeat exposed vertebral and basilar artery (P = 0,026). In patients with genotype C/C for C677T polymorphic variant with normal blood pressure developes mild disease (P = 0,021). Homozygotes C/C A1298C polymorphism of males are more prone to recurrent stroke (P = 0,041).
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McAuley, Emma. "Riboflavin, MTHFR genotype and blood pressure : implications for personalised nutrition." Thesis, Ulster University, 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.706468.

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Hypertension is the most common risk factor for cardiovascular morbidity and mortality affecting approximately 1 billion people worldwide. Recently evidence has called for a more rigorous approach to lower blood pressure (BP) to levels below the current threshold. Thus, there is a clear need to identify new strategies for the prevention and treatment of hypertension including targeted, non-pharmacological approaches to reduce BP. A common polymorphism (C677T) in the folate metabolising enzyme methylenetetrahydrofolate reductase (MTHFR) has been associated with hypertension. Furthermore, in three randomised controlled trials previously conducted at this centre riboflavin (required as a cofactor for MTHFR) has been shown to effectively lower BP in cardiovascular disease (CVD) and hypertensive patients homozygous for the MTHFR C677T polymorphism (TT genotype) in premature CVD and hypertensive patients. No previous study has however considered the BP lowering effect of riboflavin at a higher dose than previously used (1.6mg/d), or indeed considered how this novel option might translate to patient care. Finally the role of this polymorphism in the development of hypertension over time has not been previously considered. The aim of this thesis therefore was to investigate the role of the MTHFR C677T polymorphism and its interaction with riboflavin, in determining BP in generally healthy adults, and to consider the implications of this gene-nutrient interaction for a personalised nutrition approach to managing hypertension. The findings from a 10-year follow up study provide evidence that adults with the TT genotype had a higher systolic BP than those with the CC/CT genotypes at any given age from 40-65 years. Furthermore, individuals with the TT genotype had a BP in the hypertensive category at a younger age, an effect that appears to be significantly influenced by riboflavin, with the highest BP in adults with the TT genotype in combination with low riboflavin status (ft =0.155, P <0.034). In a randomised controlled trial, that investigated the BP lowering of riboflavin, preliminary findings suggest that the BP response to riboflavin may be strongest in younger adults (<55 years) and in females, but this requires further investigation and no firm conclusions can be made until this trial reaches completion (mid 2016). The GPs and genetically at-risk adults investigated reported a positive attitude towards the novel role of riboflavin in the prevention and treatment of hypertension. In conclusion, the MTHFR 677TT genotype is an important determinant of BP, furthermore in these genetically at risk individuals riboflavin offers a novel preventive and a treatment option for hypertension.
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Neaga, Oana-Raisa. "Male germ cell development in the methylenetetrahydrofolate reductase (MTHFR) mouse model." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=81366.

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Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a substrate for remethylation of homocysteine to methionine. Methionine is then converted to S-adenosylmethionine (SAM), the universal methyl donor. In the mouse, MTHFR levels are highest in the testis and mice deficient for a targeted mutation in the Mthfr gene are infertile. Analysis of prenatal gonocyte development provided evidence that the defect in the Mthfr mouse testis occurs shortly after birth. The expression profiles at the mRNA and protein levels suggest that Mthfr is expressed in the male germ line and is developmentally regulated, with a possible role in meiosis. Testicular phenotype was further characterized by altering the expression of this enzyme in an Mthfr folate deficiency animal model. While postnatal folate deficiency appears not to have adverse effects on spermatogenesis, it results in significantly reduced sperm numbers in males from the developmental study, regardless of their Mthfr genotype.
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Massa, Nayara Moreira. "Avaliação do efeito da Citrullus Lanatus (melancia) e análise Da influência de polimorfismos genéticos em adultos Dislipidêmicos." Universidade Federal da Paraí­ba, 2013. http://tede.biblioteca.ufpb.br:8080/handle/tede/4296.

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Dyslipidemia and genetic polymorphisms are associated with increased risk for developing cardiovascular diseases and watermelon appears to possess the potential to improve hyperlipidemia due to the presence of nutrients such as arginine and citrulline. We investigated the hypolipidemic effect of the extract of watermelon and influence of genotype of methylenetetrahydrofolate reductase (MTHFR C677T) and apolipoprotein E in response to supplementation. We developed an experimental, clinical phase II, randomized, double blind placebo controlled. Initially biochemical tests were performed to evaluate the lipid profile with 92 employees of a public institution, randomly. Of these, forty-three subjects diagnosed with dyslipidemia were randomly divided into two groups, the experimental (n = 22) and control (n = 21). The subjects were supplemented daily (6 g) for 42 days with extract of watermelon or a mixture of carbohydrates (sucrose / glucose / fructose). We evaluated anthropometric parameters (weight, body mass index, waist circumference and waist-hip ratio), biochemical (lipid profile), systemic arterial pressure and cardiac autonomic activity. The use of the extract of watermelon reduced plasma total cholesterol (p <0.05) and low density lipoprotein (p <0.01) without modifying values triglyceride, high density lipoprotein and very low density lipoprotein in human adults with dyslipidemia, pre hypertensive, overweight and glucose levels close to the upper limit. T allele carriers (C677T) in the experimental group apresentarm reduction of low density lipoprotein (p <0.01), longer allele C did not reduce the levels of this variable. The subjects in the experimental group and control had stimulated the sympathetic system, without modifications after supplementation in both groups. Beneficial effect of the extract on blood pressure levels, significantly reducing systolic blood pressure (p <0.01) and diastolic (p <0.01) in the experimental group, no significant changes in the control group. There were no changes in anthropometric parameters in both groups after supplementation with the extract of watermelon. In summary, the present study first demonstrated the beneficial effect of the consumption of watermelon extract in reducing plasma levels of lipids and systolic and diastolic blood pressure in humans, where MTHFR C677T polymorphism did not influence the levels of plasma lipids, but makes individuals more responsive to treatment with watermelon. The consumption of functional food may be an alternative therapy in the adjuvant treatment of patients with dyslipidemia, causing health promotion and minimizing the development of risk factors for cardiovascular disease.
A dislipidemia e polimorfismos genéticos estão relacionados com risco aumentado para desenvolver doenças cardiovasculares e a melancia parece possuir potencial para melhorar hiperlipidemia devido à presença de nutrientes como arginina e citrulina. Investigou-se o efeito hipolipemiante do extrato de melancia e a influência do genótipo da metilenotetrahidrofolato redutase (MTHFR C677T) e da apolipoproteína E na resposta a suplementação. Foi desenvolvido um estudo experimental, clínico de fase II, randomizado, duplo cego com placebo controlado. Inicialmente foram realizados exames bioquímicos para avaliação do perfil lipídico com 92 funcionários de uma instituição pública, de forma aleatória. Destes, quarenta e três sujeitos diagnósticados com dislipidemia foram randomicamente divididos em dois grupos, o experimental (n=22) e controle (n=21). Os sujeitos foram suplementados diariamente (6 g) durante 42 dias com extrato de melancia ou uma mistura de hidratos de carbono (sacarose/glicose/frutose). Foram avaliados parâmetros antropométricos (peso, índice de massa corporal, circunferência da cintura e relação cintura quadril), bioquímicos (perfil lipídico), pressão arterial sistêmica e atividade autonômica cardíaca. O consumo do extrato de melancia reduziu concentrações plasmáticas de colesterol total (p<0,05) e lipoproteína de baixa densidade (p<0,01), sem modificar valores de triglicerídeo, lipoproteína de alta densidade e lipoproteína de muito baixa densidade em humanos adultos com dislipidemia, pré hipertensos, com sobrepeso e glicemia próximo ao limite superior. Portadores do alelo T (MTHFR C677T) do grupo experimental apresentarm redução da lipoproteína de baixa densidade (p<0,01), já portadores do alelo C não reduziram os níveis desta variável. Os sujeitos do grupo experimental e controle apresentaram o sistema simpático estimulado, sem modificações após suplementação em ambos os grupos. Efeito benéfico do extrato sobre níveis de pressão arterial, reduzindo significativamente valores de pressão arterial sistólica (p<0,01) e diastólica (p<0,01) no grupo experimental, sem alterações significativas no grupo controle. Não foram encontradas modificações dos parâmetros antropométricos em ambos os grupos após a suplementação com o extrato de melancia. Em resumo, o presente estudo demonstrou pela primeira vez efeito benéfico do consumo do extrato de melancia na redução dos níveis plasmáticos de lipídios e pressão arterial sistólica e diastólica em seres humanos, onde polimorfismo MTHFR C677T não influenciou os níveis de lipídios plasmáticos, mas torna os indivíduos mais responsivos ao tratamento com a melancia. O consumo deste alimento funcional pode representar uma alternativa terapêutica no tratamento coadjuvante de pacientes com dislipidemia, acarretando promoção da saúde e minimização do desenvolvimento de fatores de risco para as doenças cardiovasculares.
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7

Hessing, Sabine. "Die Rolle der MTHFR-C677T-Mutation bei der akuten Abstossung von Nierentransplantaten." [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=967954932.

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Chan, Manuel. "Characterization of the 5' region of the human methylenetetrahydrofolate reductase, MTHFR, gene." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0026/MQ50734.pdf.

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Tran, Pamela. "Regulation of mouse methylenetetrahydrofolate reductase (Mthfr) and its role in early development." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=38426.

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Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a methyl donor for conversion of homocysteine to methionine. A common thermolabile variant causes mild MTHFR deficiency, induces mild hyperhomocysteinemia when plasma folate levels are low and increases risk for neural tube defects (NTD) and pregnancy loss. To increase our understanding of Mthfr regulation, the 5' and 3' regions of the mouse cDNA and gene were characterized. These studies revealed two major promoters, an internal coding exon in the 5'UTR, alternative transcriptional and translational start sites and alternative splicing and polyadenylation. These data suggest that Mthfr regulation is likely to be complex. To investigate the role of Mthfr in NTD, several approaches were taken. First, folate and MTHFR co-factor, flavin adenine dinucleotide, were shown to stabilize normal and thermolabile MTHFR during heat inactivation, suggesting that folate might prevent hyperhomocysteinemia in individuals with thermolabile enzyme through protein stabilization. Next, in situ hybridization of neurulating mouse embryos showed that Mthfr is expressed in the forebrain, hindbrain, branchial arches, blood vessels, gut, and importantly, in the ventral part of the neural tube. Mthfr+/- mice were then used as a model of mild deficiency to address the effects of maternal and embryonic Mthfr deficiency on development. When combined with inadequate dietary folate, Mthfr +/- pregnant females showed a two-fold higher rate of pregnancy loss than Mthfr+/+ pregnant females. As well, a percentage of day 10.5 embryos from only the Mthfr+/- pregnant females were underdeveloped by 2 days. These effects were not apparent when dietary folate was sufficient, consistent with a genetic-nutritional interactive effect. Finally, folate metabolism was investigated in an NTD model, the curly-tail (ct) mouse, since the ct defect and Mthfr were mapped in close proximity. However, Mthfr sequence in ct mice was simila
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10

Pai, Aditya P. "Isolation and partial characterization of the mouse gene for methylenetetrahydrofolate reductase (MTHFR)." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=22868.

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Methylenetetrahydrofolate reductase (MTHFR), an important enzyme in folate metabolism, mediates the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate which serves as the carbon donor for the conversion of homocysteine to methionine. It is also inhibited by S-adenosylmethionine which has shown to be actively demethylated to form S-adenosylhomocysteine, which is hydrolysed to homocysteine. MTHFR deficiency exhibits well-documented clinical and biochemical symptoms. The human MTHFR cDNA was isolated by Goyette et al (1994), and fifteen mutations have been identified at this locus.
An animal model would prove to be useful for designing therapeutic approaches for understanding the pathogenesis of this genetic disease at the molecular level. The mouse MTHFR gene and cDNA have been isolated and partially characterized. Four genomic clones were isolated by library screening. One of these clones (clone 3) contained the 5$ sp prime$ end of the gene and was completely characterized. The clone was shown to have no rearrangements and is to be used to design targeting vectors for 'knockout mice' and mice carrying a common mutation which has been postulated to be a genetic risk factor for cardiovascular disease. The other three clones contain the remaining 3$ sp prime$ portion of the gene. The coding portion has approximately 90% homology with the human cDNA and also shows a similar gene structure.
A 2.2 Kb mouse MTHFR cDNA was isolated by library screening and was found to contain a 320 base pair extension at the 5$ sp prime$ end which has not been found in the human cDNA. The cDNA contains exons -1 -3, but also contains two possibly unspliced introns. A portion of this cDNA can however still be used to rescreen libraries to isolate a full length cDNA. The above research is the first genetic data on the mouse MTHFR gene and provides the basis for future research involving mouse models of MTHFR deficiency.
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Books on the topic "MTHFR"

1

Magne, Ueland Per, and Rozen Rima, eds. MTHFR polymorphisms and disease. Georgetown, Tex: Landes Bioscience/ Eurekah.com, 2005.

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Ueland, Per Magne, and Rima Rozen. MTHFR polymorphisms and disease. Georgetown, Tex: Landes Bioscience, 2005.

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Library of Tibetan Works & Archives., ed. Mthar gtam mthoṅ ba ʼdzum śor. Dharamsala, H.P: Bod kyi dpe mdzod khaṅ, 2001.

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Rig-ʼdzin Kun-grol-grags-paʼ [i.e. paʼi] rnam mthar [i.e. thar]. Swayambhunath, Kathmandu, Nepal: Tritan Narbutse Bon Education Centre Ichangu Narayan, 1990.

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Dge-ʼdun-bsam-gtan, ed. Tshaṅs thig: Sprul sku ched sbyor ʼdzin grwaʼi mthar phyin dran rten. [Zi-liṅ]: Mtsho-sṅon naṅ bstan slob gliṅ, 2004.

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Sa mthar skor baʼi mthoṅ snaṅ: Rṅa-rgod Yon-tan gyi sñan rtsom phyogs bsgrigs. [India: ʼBras Sgo-maṅ dpe mdzod glog klad sde tshan, 1999.

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Center, Buddhist Digital Resource. Snga ʼgyur mtho slob chen moʼi bslab pa mthar son gyi mdzad sgo thengs drug paʼi dran deb. Bylakuppe, karnataka: Ngagyur rigzod editorial committee, 2010.

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Ri chos ṅes don rgya mtsho źes bya ba mthar thug thun moṅ ma yin paʼi man ṅag. Pe-cin: Mi rigs dpe skrun khaṅ, 1998.

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Center, Buddhist Digital Resource. Mkhas grub chen po rnam grol bzan po'i rnam thar dad pa'i spu lon gyo byed no mthar can. Dalhousie, h.p: Damchoe sangpo, 1985.

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Ṅag-dbaṅ-kun-dgaʼ-ʼjam-dbyaṅs-blo-gros, ed. Ri chos ṅes don rgya mtsho źes bya ba mthar thug thun moṅ ma yin paʼi man ṅag bźugs. [Pe-cin]: Mi rigs dpe skrun khaṅ, 2007.

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Book chapters on the topic "MTHFR"

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Oette, Mark, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, et al. "MTHFR Deficiency." In Encyclopedia of Molecular Mechanisms of Disease, 1356. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6947.

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Boisdron-Celle, M., V. Guérin-Meyer, and O. Capitain. "5-fluorouracile : MSI, pharmacocinétique, DPD, TYMS et MTHFR." In Médecine personnalisée en cancérologie digestive, 75–92. Paris: Springer Paris, 2013. http://dx.doi.org/10.1007/978-2-8178-0527-6_6.

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Rozen, Rima. "Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR): Interrelationships with Folic Acid, Homocysteine and Vascular Disease." In Homocysteine and Vascular Disease, 271–89. Dordrecht: Springer Netherlands, 2000. http://dx.doi.org/10.1007/978-94-017-1789-2_16.

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Woitalla, D., W. Kuhn, and T. Müller. "MTHFR C677T polymorphism, folic acid and hyperhomocysteinemia in levodopa treated patients with Parkinson’s disease." In Focus on Extrapyramidal Dysfunction, 15–20. Vienna: Springer Vienna, 2004. http://dx.doi.org/10.1007/978-3-7091-0579-5_2.

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Iolascon, A., B. Coppola, E. Miraglia Del Giudice, R. Carbone, D. Del Gaizo, M. T. Carbone, G. Aceto, M. F. Faienza, G. Del Gado, and R. Del Gado. "MTHFR 677C-T and Neural Tube Defects: An Evaluation in a Population from Southern Italy." In Spina Bifida, 509–12. Tokyo: Springer Japan, 1999. http://dx.doi.org/10.1007/978-4-431-68373-5_116.

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Cui, Lian-Hua, Meng Liu, Hong-Zong Si, Min-Ho Shin, Hee Nam Kim, and Jin-Su Choi. "Correlation of Aberrant Methylation of APC Gene to MTHFR C677T Genetic Polymorphisms in Hepatic Carcinoma." In Lecture Notes in Electrical Engineering, 2961–68. Dordrecht: Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-7618-0_376.

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Roschitz, B., W. Muntean, C. Mannhalter, and M. Koestenberger. "Deep Venous Thrombosis of the Lower Extremity in a 16-Year-Old Girl with Homozygous MTHFR- and Heterozygous Factor V Leiden-Mutation." In 33rd Hemophilia Symposium, 176–78. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/978-3-642-18260-0_25.

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Schröder, W., C. Spitzer, M. Koesling, Ch Kessler, and F. H. Herrmann. "Molekulare Marker bei Schlaganfallpatienten: Die G 20210 A-Prothrombin-Variante, die Faktor-V-Leiden-Mutation und der C 677 T-MTHFR-Polymorphismus." In 29. Hämophilie-Symposion, 312–19. Berlin, Heidelberg: Springer Berlin Heidelberg, 2000. http://dx.doi.org/10.1007/978-3-642-59633-9_55.

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Schröder, W., A. Siegemund, J. Berrouschot, H. Voigt, B. Vorberg, H. Scheel, and F. H. Herrmann. "Molekulargenetische Marker bei Patienten mit venösen und arteriellen Thrombosen: Der G20210A-Prothrombin-Polymorphismus, die C677T MTHFR-Mutation und die Faktor-V-Leiden (G1691A) Mutation." In 28. Hämophilie-Symposion Hamburg 1997, 67–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59915-6_10.

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Herrmann, F. H., W. Schröder, R. Altman, R. Jimenez Bonilla, J. L. Perez-Requejo, and J. R. Singh. "Zur Prävalenz des G20210A-Prothrombin-Polymorphismus, der C677T-Mutation des MTHFR-Gens und der Faktor-V-Leiden-Mutation in Nordostdeutschland, Argentinien, Venezuela, Costa Rica und Indien." In 28. Hämophilie-Symposion Hamburg 1997, 55–60. Berlin, Heidelberg: Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-59915-6_8.

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Conference papers on the topic "MTHFR"

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Machado, Vitor Pereira, Edis Bellini Júnior, Lucas Gazarini, Clarisse Lobo, and Claudia Bonini-Domingos. "Association of genetic markers with ischemic stroke in pediatric patients with sickle cell anemia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.293.

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Introduction: Sickle cell anemia (SCA) is characterized by complex clinical heterogeneity. Amongst them, ischemic stroke (IS) stands out because it affects 8% to 12% of patients up to the age of 20, with a mortality rate of 20% in untreated cases. Objectives: To evaluate the association of SNPs -786T/C NOS3 and C667T MTHFR in the occurrence of IS in SCA pediatric patients undergoing regular blood transfusion. Methods: Ninety SCA pediatric patients 12.1±3.3 years old being followed-up at HEMORIO/RJ, divided into Patients with IS in hypertransfusion (n=20) and Patients without IS not transfused (n=70). Results: IS Group: genotypic frequencies: -786T/C NOS3, 4 (20%) CC, 4 (20%) CT and 22 (60%) TT; C667T MTHFR, 3 (15%) TT, 2 (10%) CT and 15 (75%) CC. Group without IS: genotypic frequencies: -786T/C NOS3, 1 (1.4%) CC, 25 (35.7%) CT and 44 (62.8%) TT; C667T MTHFR, 1 (1.4%) TT, 18 (25.7%) CT and 51 (72.8%) CC. Chisquare test revealed association of SNPs -786T/C NOS3 (p = 0,017) and C667T MTHFR (p = 0,004) with the occurrence of stroke in SCA patients, in which the frequency of homozygous mutants is higher in the IS group than in the control group (-786T/C NOS3 20% vs. 1.4% and C667T MTHFR 15% vs. 1.4%). Conclusions: The polymorphisms evaluated influenced the occurrence of IS in SCA pediatric patients especially when carrying recessive alleles. Studies with larger sample sizes and similar inclusion/exclusion criteria is needed.
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Gomes, Sérgio de Oliveira, Thaísa Guedes de Freitas Almeida, Cláudia Sampaio de Andrade Lima, and Ricardo Yara. "ESTUDO SOBRE A FORMAÇÃO DA ENZIMA MTHFR HUMANA POR HOMOLOGIA." In Encontro Anual da Biofísica 2017. São Paulo: Editora Blucher, 2017. http://dx.doi.org/10.5151/biofisica2017-015.

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Astaf'eva, E. A., T. A. Tolochko, and A. A. Timofeeva. "THE EFFECT OF POLYMORPHISM OF THE MTHFR C677T GENE ON THE MORPHOFUNCTIONAL STATE OF LYMPHOCYTES DURING DRUG INTOXICATION." In I International Congress “The Latest Achievements of Medicine, Healthcare, and Health-Saving Technologies”. Kemerovo State University, 2023. http://dx.doi.org/10.21603/-i-ic-8.

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The prevalence of opioid dependence among the able-bodied population is an important medical and social problem. Methylenetetrahydrofolate reductase (MTHFR) plays a key role in the metabolism of narcotic drugs. A decrease in the enzyme activity in polymorphic variants of the gene encoding it is associated with a decrease in the immunity of opioid addiction patients.
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Giannelou, Maira, Andrianos Nezos, Kyriaki Maselou, Nikolaos Drakoulis, Dimitrios Ioakeimidis, Michael Koutsilieris, Haralampos M. Moutsopoulos, and Clio P. Mavragani. "07.11 Contribution of mthfr gene variants in lupus related subclinical atherosclerosis." In 37th European Workshop for Rheumatology Research 2–4 March 2017 Athens, Greece. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2016-211054.11.

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de Lucas-Ramos, Pilar, Jose Miguel Rodriguez Gonzalez-Moro, Zoraida Verde Rello, Jose Luis Izquierdo Alonso, Jose Mª Bellón Cano, and Catalina Santiago Dorrego. "Metylene Tetrahydrofolate Reductase (MTHFR) C677T Gene Polymorphisms In Patients With COPD." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a2623.

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Magadan, Eduarda Druck, Eduarda Kotlinsky Weber, Esthela Rodegheri Trevisan, Luiza Fernandes Xavier, and Virgínia Tafas Da Nóbrega. "TROMBOFILIA EM CRIANÇA PORTADORA DE SÍNDROME DE DOWN: UM RELATO DE CASO." In II Congresso Brasileiro de Hematologia Clínico-laboratorial On-line. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/hematoclil/127.

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Introdução: A trombose arterial é um evento raro na população pediátrica. A chance dele ocorrer é potencializada se associada a mutações ou deficiência de proteínas responsáveis pela formação ou bloqueio do coágulo. Algumas mutações em heterozigose são muito frequentes, como a mutação metilenotetrahidrofolato redutase (MTHFR). Quando isoladas, essas mutações não causam qualquer manifestação clínica; todavia, quando combinadas com outras mutações ou fatores de hipercoagulabilidade, podem desencadear tromboses. Em pacientes com síndrome de Down, não há incidência relatada de trombofilia e eventos tromboembólicos aparentam ser incomuns. Objetivo: Relatar o caso de um paciente pediátrico, portador de síndrome de Down, com AVC isquêmico e trombofilia. Metodologia: Revisão de prontuário, com coleta de dados clínicos e laboratoriais. Resultados/Descrição do caso: Paciente masculino, de 5 anos e 6 meses, portador de síndrome de Down e hipotireoidismo, com AVC prévio, admitido no Hospital da Criança Santo Antônio por quadro de paresia no membro superior direito, desvio da boca para a direita e marcha hemiparética por menos de 24h, com resolução espontânea. Realizou uma tomografia craniana que não apontou sangramentos. À angioressonância magnética, efetuada no dia subsequente, observou-se trombose dos segmentos inclusos da artéria vertebral direita, como também sinais de isquemia aguda no hemisfério cerebelar direito (território da artéria cerebelar póstero-inferior) e no tálamo esquerdo. Ademais, constatou-se encefalomalácia no esplênio do corpo caloso à direita. Os resultados dos exames laboratoriais foram os seguintes: fator V - 127%; fator VIII > 200%; anti-trombina III - 101%; PTN S - 102%; PTN C - 134%; homocisteína - 6,97 µmol/l; anticardiolipinas IgA e IgG - não reagentes; anticardiolipinas IgM - reagente fraco. Detectou-se duas mutações em heterozigose: uma, no gene MTHFR; outra, no gene da protrombina. Fator V de Leiden estava ausente. Atualmente, o paciente encontra-se com anticoagulação profilática para evitar novos eventos trombóticos graves. Conclusão: As mutações em heterozigose no gene da protrombina e no gene MTHFR, associadas à elevação do fator VIII, provocaram um estado de hipercoagulabilidade neste paciente, culminando com trombose em artérias intra e extracerebrais. Portanto, este caso mostra a importância da investigação genética em todos pacientes pediátricos com trombose venosa sem fator desencadeante ou com trombose arterial.
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Muthmainah, Muthmainah, Nova Kurniasari, Mohammad Fanani, Septiawan Debree, and Herdaetha Adriestri. "C677T Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism and Treatment Response in Schizophrenia Patients." In Health Science International Conference (HSIC 2017). Paris, France: Atlantis Press, 2017. http://dx.doi.org/10.2991/hsic-17.2017.33.

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Lampalo, Marina, Irena Jukic, Jasna Bingulac-Popovic, Ana Hecimovic, Nikola Ferara, and Sanja Popovic-Grle. "Effect of MTHFR C677T polymorphism on allergic airway disease in asthma patients." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa4460.

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Fragkioudaki, Sofia, Adrianos Nezos, Aggeliki A. Saetta, Nikolaos Drakoulis, Vasilis L. Souliotis, Petros P. Sfikakis, Athanasios G. Tzioufas, et al. "07.08 Contribution of mthfr gene polymorphisms in primary sjögren’s syndrome related lymphomagenesis." In 37th European Workshop for Rheumatology Research 2–4 March 2017 Athens, Greece. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2016-211054.8.

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Falchi, Alessandra, Michela Barsotelli, Laurianne Giovannoni, Laurent Varesi, and Giuseppe Vona. "Prevalence of MTHFR gene polymorphisms among Mediteanean populations: a possible genetic selection from malaria?" In 2006 First International Symposium on Environment Identities and Mediterranean Area. IEEE, 2006. http://dx.doi.org/10.1109/iseima.2006.344998.

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Reports on the topic "MTHFR"

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Iyshwarya, B. K., Ilibagiza Regine, and Ramakrishnan Veerabathiran. Association of MTHFR Gene Polymorphism in Diabetic Nephropathy. Peeref, July 2022. http://dx.doi.org/10.54985/peeref.2207p7008018.

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Owens, Greg D., Nafisa M. Jadavji, and Patrice D. Smith. Neurogenesis Unchanged by MTHFR Deficiency in Three-Week-Old Mice. Journal of Young Investigators, December 2016. http://dx.doi.org/10.22186/jyi.31.6.39-43.

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Zhao, Lili, Tao Li, Meijuan Dang, Ye Li, Hong Fan, Qian Hao, Dingli Song, et al. Association of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism with ischemic stroke risk in different populations: an updated meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, November 2022. http://dx.doi.org/10.37766/inplasy2022.11.0037.

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Review question / Objective: Recently, increasing evidence has implicated methylenetetrahydrofolate reductase (MTHFR) gene mutation as a risk factor for ischemic stroke (IS) in the general population. However, studies have been inconclusive and lack evidence on specific populations. We aim to determine whether the MTHFR C677T variant is linked to an increased risk of IS in different age groups andregions. Information sources: A systematic search of PubMed, EMBASE, Cochrane Library, Web of Science, and CNKI databases for relevant observational studies will be undertaken.
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Liu, Xudong. MTHFR Functional Polymorphism C677T and Genomic Instability in the Etiology of Idiopathic Autism in Simplex Families. Revision. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada600503.

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El Bairi, Khalid, and Falak Azzam. Polymorphisms of Folate-Metabolizing Enzymes (MTHFR, MTR and MTRR) and Colorectal Cancer Risk: An Updated Systematic Review and Meta-analysis of Case-control Studies. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, June 2020. http://dx.doi.org/10.37766/inplasy2020.6.0037.

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