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https://www.readbyqxmd.com/read/29896723/-analysis-of-smpd1-gene-mutations-in-chinese-patients-with-parkinson-s-disease
#1
Na Song, Wei Wang, Chao Chen, Jianyi Niu, Yuxuan Guojin, Cunju Guo, Fabin Han
OBJECTIVE: To explore the role of sphingomyedlin phosphodiesterase 1 (SMPD1) gene mutations in the pathogenesis of Parkinson's disease (PD). METHODS: For 110 Chinese patients with PD, all exons of the SMPD1 gene were sequenced, and the results were compared with reference sequence from GenBank to identify possible mutations. RESULTS: A novel heterozygous mutation Ex2:c.677C>A/p.P226Q (likely pathogenic) was identified in a patient, which resulted in substitution of Glutamic acid by Proline at position 226...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29891045/biventricular-thrombi-in-a-patient-with-heart-failure-with-severely-reduced-ejection-fraction-and-heterozygous-prothrombin-20210g-a-and-homozygous-methylenetetrahydrofolate-reductase-677c-t-mutations
#2
REVIEW
Htoo Kyaw, Fatima Shaik, Won J Park, Deepika Misra
Thrombus in the heart is known to be one of the many sequelae of anterior wall myocardial infarction, atrial fibrillation and coagulation disorders. However, biventricular thrombi are relatively rarely found, even in conditions with a high possibility of thrombus formation. We report the case of a 75-year-old-woman with newly diagnosed systolic heart failure secondary to a nonischemic cardiomyopathy, who was found to have large biventricular thrombi. Further coagulopathy work-up revealed that she was heterozygous for the prothrombin 20210G/A and homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C/T mutations...
June 2018: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29845393/the-association-of-polymorphisms-in-folate-metabolizing-genes-with-response-to-adjuvant-chemotherapy-of-colorectal-cancer
#3
Al-Motassem Yousef, Mohammed Zawiah, Shorouq Al-Yacoub, Taha Kadi, Dua' A Tantawi, Hanguin Al-Ramadhani
BACKGROUND: Colorectal cancer (CRC) is one of the major health issues worldwide. 5-Fluorouracil (5-FU) is a cornerstone of chemotherapy for CRC and the major targets of 5-FU are folate-metabolizing enzymes. METHODS: A total of 103 CRC patients with complete clinical data were included in this prospective cohort study. Genotyping was performed using polymerase chain reaction (PCR) followed by sequencing. Using Kaplan-Meier curves, log-rank tests, and Cox proportional hazard models, we evaluated associations between functional polymorphisms in four genes MTHFR (1298A>C and 677C>T), DPYD (496A>G and 85T>C), DHFR 19 bp del, and MTR (2756 A>G) with disease-free survival (DFS)...
May 29, 2018: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/29813097/mthfr-677c-%C3%A2-t-genotype-modulates-the-effect-of-a-5-year-supplementation-with-b-vitamins-on-homocysteine-concentration-the-su-fol-om3-randomized-controlled-trial
#4
Leopold K Fezeu, Veronique Ducros, Jean-Louis Guéant, Jean-Claude Guilland, Valentina A Andreeva, Serge Hercberg, Pilar Galan
AIMS: To study how MTHFR 677C→T genotype modulates the effect of supplementation with B-vitamins on total homocysteine (tHcy) and B-vitamin concentrations. METHODS: 2381 patients with a personal history of cardiovascular disease were randomly assigned to one of four groups: 1) B-vitamins alone (560 μg of 5-methyl-THF, 3 mg of vitamin B6 and 20 μg of vitamin B12), 2) n-3 fatty acids alone (600 mg of EPA and DHA in a 2:1 ratio), 3) B-vitamins and n-3 fatty acids, and 4) placebo...
2018: PloS One
https://www.readbyqxmd.com/read/29739057/cell-line-controls-for-the-genotyping-of-a-spectrum-of-human-single-nucleotide-polymorphisms-in-the-clinical-laboratory
#5
Christine Kimbacher, Christian Paar, Andrea Freystetter, Joerg Berg
BACKGROUND: Genotyping for clinically important single nucleotide polymorphisms (SNPs) is performed by many clinical routine laboratories. To support testing, quality controls and reference materials are needed. Those may be derived from residual patient samples, left over samples of external quality assurance schemes, plasmid DNA or DNA from cell lines. DNAs from cell lines are commutable and available in large amounts. METHODS: DNA from 38 cell lines were examined for suitability as controls in 11 SNP assays that are frequently used in a clinical routine laboratory: FV (1691G>A), FII (20210G>A), PAI-1 4G/5G polymorphism, MTHFR (677C>T, 1298A>C), HFE (H63D, S65C, C282Y), APOE (E2, E3, E4), LPH (-13910C>T), UGT1A1 (*28, *36, *37), TPMT (*2, *3A, *3B, *3C), VKORC1 (-1639G>A, 1173C>T), CYP2C9 (*2, *3, *5)...
May 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29658346/association-between-thrombophilia-gene-polymorphisms-and-recurrent-pregnancy-loss-risk-in-the-iranian-population
#6
Razieh Bigdeli, Mohammad Reza Younesi, Erfan Panahnejad, Vahid Asgary, Samaneh Heidarzadeh, Hoda Mazaheri, Samira Louni Aligoudarzi
Miscarriage is the most common complication in pregnancy. Considering the importance of the problem thrombophilia in pregnant women and its association with recurrent pregnancy loss (RPL), analysis of polymorphisms of genes involved in thrombophilia can be useful. We investigated the frequency and association between ten polymorphisms of seven thrombophilia genes and RPL in an Iranian population. This case-control study was conducted on 200 women with recurrent pregnancy loss and also on 200 women with at least one successful pregnancy as the control group...
April 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29566195/lifestyle-metabolite-and-genetic-determinants-of-formate-concentrations-in-a-cross-sectional-study-in-young-healthy-adults
#7
John T Brosnan, James L Mills, Per M Ueland, Barry Shane, Ruzong Fan, Chi-Yang Chiu, Faith Pangilinan, Lawrence C Brody, Margaret E Brosnan, Theerawat Pongnopparat, Anne M Molloy
Background: Formate is an important metabolite that serves as a donor of one-carbon groups to the intracellular tetrahydrofolate pool. However, little is known of its circulating concentrations or of their determinants. Objective: This study aimed to define formate concentrations and their determinants in a healthy young population. Design: Serum formate was measured in 1701 participants from the Trinity Student Study. The participants were men and women, aged 18 to 28 y, enrolled at Trinity College, Dublin...
March 1, 2018: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29564022/no-evidence-for-association-of-mthfr-677c-t-and-1298a-c-variants-with-placental-dna-methylation
#8
Giulia F Del Gobbo, E Magda Price, Courtney W Hanna, Wendy P Robinson
Background: 5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in one-carbon metabolism that ensures the availability of methyl groups for methylation reactions. Two single-nucleotide polymorphisms (SNPs) in the MTHFR gene, 677C>T and 1298A>C, result in a thermolabile enzyme with reduced function. These variants, in both the maternal and/or fetal genes, have been associated with pregnancy complications including miscarriage, neural tube defects (NTDs), and preeclampsia (PE), perhaps due to altered capacity for DNA methylation (DNAm)...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29501539/contribution-of-mthfr-gene-variants-in-lupus-related-subclinical-atherosclerosis
#9
Maira Giannelou, Andrianos Nezos, Sofia Fragkioudaki, Dimitra Kasara, Kyriaki Maselou, Nikolaos Drakoulis, Dimitris Ioakeimidis, Haralampos M Moutsopoulos, Clio P Mavragani
OBJECTIVE: Elevated concentrations of homocysteine have been previously identified as an independent risk factor for subclinical atherosclerosis in patients with systemic lupus erythematosus (SLE). Given that heightened homocysteine levels are known to be strongly influenced by genetic factors, in the current study we investigated the contribution of high homocysteine levels as well as of functional polymorphisms of the gene encoding for the enzyme 5, 10- methylenetetrahydrofolate reductase (MTHFR) to atherosclerotic disease characterizing SLE patients...
March 6, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29465562/subacute-onset-leukodystrophy-and-visual-spatial-disorders-revealing-phenylketonuria-combined-with-homocysteinmia-in-adulthood-a-case-report
#10
Chunchen Wang, Jieying Li
RATIONALE: Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We speculated that the late-onset PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a short period of irregular diet directly caused clinical symptoms...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29396624/is-the-1298a-c-polymorphism-in-the-mthfr-gene-a-risk-factor-for-arterial-ischaemic-stroke-in-children-the-results-of-meta-analysis
#11
Beata Sarecka-Hujar, Ilona Kopyta, Michal Skrzypek
An elevated level of homocysteine is a risk factor for vascular diseases, brain atrophy and several other disorders. The 1298A>C polymorphism (rs1801131) leads to mildly decreased MTHFR activity. Previously, it was observed that the MTHFR 1298A>C polymorphism in combined analysis with the MTHFR 677C>T polymorphism increases homocysteine levels. However, conflicting results on its relation to ischaemic stroke in children can be found. We conducted a meta-analysis to analyse possible connections between the MTHFR 1298A>C polymorphism and ischaemic stroke in paediatric patients...
February 2, 2018: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/29365583/puzzle-of-the-role-for-the-mthfr-c-677c-t-variant-and-c-1298a-c-in-cardiovascular-diseases
#12
Yagang Xie, Jianxun Cui, Shuo Li, Yu-Ming Xu, Edward Randell, Liwen Zou, Fei-Yu Han, Yagang Xie
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29360980/testicular-mthfr-deficiency-may-explain-sperm-dna-hypomethylation-associated-with-high-dose-folic-acid-supplementation
#13
Mahmoud Aarabi, Karen E Christensen, Donovan Chan, Daniel Leclerc, Mylène Landry, Lundi Ly, Rima Rozen, Jacquetta Trasler
Supplementation with high doses of folic acid, an important mediator of one-carbon transfers for DNA methylation, is used clinically to improve sperm parameters in infertile men. We recently detected an unexpected loss of DNA methylation in the sperm of idiopathic infertile men after 6 months of daily supplementation with 5 mg folic acid (>10× the daily recommended intake-DRI), exacerbated in men homozygous for a common variant in the gene encoding an important enzyme in folate metabolism, methylenetetrahydrofolate reductase (MTHFR 677C>T)...
April 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29246599/manifestations-of-neurological-symptoms-and-thromboembolism-in-adults-with-mthfr-deficiency
#14
Paulus S Rommer, Johannes Zschocke, Brian Fowler, Manuela Födinger, Vassiliki Konstantopoulou, Dorothea Möslinger, Elisabeth Stögmann, Erhard Suess, Matthias Baumgartner, Eduard Auff, Gere Sunder-Plassmann
BACKGROUND: Methylenetetrahydrofolate-reductase (MTHFR) deficiency is a rare autosomal recessive disorder affecting intracellular folate metabolism with affection of different organ systems and clinical manifestation usually in childhood. OBJECTIVE: We report on four adult members of a family with MTHFR deficiency presenting with neurological and thromboembolic complications in adulthood. METHODS: Extensive diagnostic work-up including genetic testing was performed in four adult members...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29202425/association-study-of-methylenetetrahydrofolate-reductase-genetic-polymorphism-677c-t-with-schizophrenia-in-hospitalized-patients-in-population-of-european-russia
#15
T V Zhilyaeva, A V Sergeeva, A S Blagonravova, L N Kasimova, K V Kuznetsov, V I Golovanova, T B Shebolkova, E A Korshunova
The purpose of the research was to investigate the association of methylenetetrahydrofolate reductase (hereinafter MTHFR) genetic polymorphism 677C>T with schizophrenia in the Russian population in comparison with the control group of healthy blood donors. Also some characteristics of schizophrenia were examined in patients with/without defective T-allele of MTHFR677C>T polymorphism. 500 patients with schizophrenia and 499 blood donors were examined for T-allele carriage of polymorphism MTHFR677C>T by PCR method...
February 2018: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/29188628/-effect-of-mthfr-gene-on-the-schizophrenia-and-its-cognitive-function
#16
Weiping Wang, Weixing Fan, Bo Shi, Chunnan Tong, Xiaorong Wang, Jun Cai, Chen Zhang
OBJECTIVE: To investigate the effect of MTHFR gene on schizophrenia and its cognitive function. METHODS: We recruited 254 schizophrenia patients with stable condition, 339 healthy controls for genetic analysis and 72 healthy controls for cognitive evaluation. The repeatable battery for the assessment of neuropsychological status (RBANS) was used for cognitive measurement. PCR-RFLP technique was carried out to genotype 677C/T polymorphism. RESULTS: There were no significant differences in genotypic or allelic frequencies of the 677C/T polymorphism between the case and control groups (P> 0...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29162511/the-thymidylate-synthase-enhancer-region-tser-polymorphism-increases-the-risk-of-thymic-lymphoid-hyperplasia-in-patients-with-myasthenia-gravis
#17
Angela Lopomo, Roberta Ricciardi, Anna De Rosa, Melania Guida, Michelangelo Maestri, Marco Lucchi, Franca Melfi, Alfredo Mussi, Lucia Migliore, Fabio Coppedè
BACKGROUND: Myasthenia Gravis (MG) is caused, in approximately 80% of the patients, by autoantibodies against the nicotinic acetylcholine receptor (AChR). The disease is often associated with pathological changes of the thymus: thymic epithelial tumours are present in about 10-20% of the patients, while up to 80% of the patients with early disease onset have thymic hyperplasia. Folate metabolism is required for the production of DNA precursors and for proper DNA methylation reactions, and impaired folate metabolism has been often associated with cellular growth and cancer...
February 5, 2018: Gene
https://www.readbyqxmd.com/read/29084233/genetically-defined-elevated-homocysteine-levels-do-not-result-in-widespread-changes-of-dna-methylation-in-leukocytes
#18
Pooja R Mandaviya, Roby Joehanes, Dylan Aïssi, Brigitte Kühnel, Riccardo E Marioni, Vinh Truong, Lisette Stolk, Marian Beekman, Marc Jan Bonder, Lude Franke, Christian Gieger, Tianxiao Huan, M Arfan Ikram, Sonja Kunze, Liming Liang, Jan Lindemans, Chunyu Liu, Allan F McRae, Michael M Mendelson, Martina Müller-Nurasyid, Annette Peters, P Eline Slagboom, John M Starr, David-Alexandre Trégouët, André G Uitterlinden, Marleen M J van Greevenbroek, Diana van Heemst, Maarten van Iterson, Philip S Wells, Chen Yao, Ian J Deary, France Gagnon, Bastiaan T Heijmans, Daniel Levy, Pierre-Emmanuel Morange, Melanie Waldenberger, Sandra G Heil, Joyce B J van Meurs
BACKGROUND: DNA methylation is affected by the activities of the key enzymes and intermediate metabolites of the one-carbon pathway, one of which involves homocysteine. We investigated the effect of the well-known genetic variant associated with mildly elevated homocysteine: MTHFR 677C>T independently and in combination with other homocysteine-associated variants, on genome-wide leukocyte DNA-methylation. METHODS: Methylation levels were assessed using Illumina 450k arrays on 9,894 individuals of European ancestry from 12 cohort studies...
2017: PloS One
https://www.readbyqxmd.com/read/28968444/one-carbon-genetic-variants-and-the-role-of-mthfd1-1958g-a-in-liver-and-colon-cancer-risk-according-to-global-dna-methylation
#19
Sara Moruzzi, Patrizia Guarini, Silvia Udali, Andrea Ruzzenente, Alfredo Guglielmi, Simone Conci, Patrizia Pattini, Nicola Martinelli, Oliviero Olivieri, Stephanie A Tammen, Sang-Woon Choi, Simonetta Friso
Several polymorphic gene variants within one-carbon metabolism, an essential pathway for nucleotide synthesis and methylation reactions, are related to cancer risk. An aberrant DNA methylation is a common feature in cancer but whether the link between one-carbon metabolism variants and cancer occurs through an altered DNA methylation is yet unclear. Aims of the study were to evaluate the frequency of one-carbon metabolism gene variants in hepatocellular-carcinoma, cholangiocarcinoma and colon cancer, and their relationship to cancer risk together with global DNA methylation status...
2017: PloS One
https://www.readbyqxmd.com/read/28760411/polymorphisms-of-mthfr-enos-ace-agt-apoe-pon1-pde4d-and-ischemic-stroke-meta-analysis
#20
Loo Keat Wei, Anthony Au, Saras Menon, Lyn R Griffiths, Cheah Wee Kooi, Looi Irene, Jiangyang Zhao, Chaeyoung Lee, Avdonina Maria Alekseevna, Muhammad Radzi Abdul Hassan, Zariah Abdul Aziz
INTRODUCTION: The association between ischemic stroke and genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR; 677C>T and 1298A>C), endothelial nitric oxide synthase (eNOS; -786T>C, +894G>T, and variable number tandem repeat [VNTR]), phosphodiesterase 4D (PDE4D; SNPs 83 and 87), angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) 235M>T, paraoxonase 1 (PON1) 192Q>R, and apolipoprotein E (ApoE) ε2ε3ε4 remains inconclusive. Therefore, this updated meta-analysis aimed to clarify the presumed influence of genetic polymorphisms on ischemic stroke by meta-analyzing the comprehensive coverage of all individual association studies...
November 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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