keyword
MENU ▼
Read by QxMD icon Read
search

A1298C

keyword
https://www.readbyqxmd.com/read/29130768/screening-of-six-polymorphisms-related-with-folate-metabolism-in-parents-of-individuals-with-down-syndrome
#1
Marly Balarin, Mariângela Cintra, Fernanda Cordeiro, Lucila Naves, Roseane Silva-Grecco
OBJECTIVE: The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents. METHODS: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS. The molecular analysis was performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) (Reaction Chain Polymerase Restriction Fragment Length Polymorphism) or Polymerase Chain Reaction (PCR)...
November 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29115087/methylenetetrahydrofolate-reductase-polymorphisms-and-risk-of-recurrent-pregnancy-loss-a-case-control-study
#2
Kyu Ri Hwang, Young Min Choi, Jin Ju Kim, Sung Ki Lee, Kwang Moon Yang, Eun Chan Paik, Hyeon Jeong Jeong, Jong Kwan Jun, Sang Ho Yoon, Min A Hong
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 induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL)...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29097250/mthfr-c677t-and-a1298c-polymorphisms-may-contribute-to-the-risk-of-parkinson-s-disease-a-meta-analysis-of-19-studies
#3
Lijun Liu, Liang Zhang, Lei Guo, Qing Yu, Hong Li, Jijun Teng, Anmu Xie
The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been reported to be a candidate gene for susceptibility to Parkinson's disease (PD), but results of different studies are conflicting. Here, we conducted a meta-analysis of published case-control studies to evaluate the association between MTHFR C677T and A1298C gene polymorphisms with the risk of PD. Electronic search through PubMed, EmBase, ScienceDirect and Cochrane Library was conducted to identify all relevant studies. A total of 19 studies with 2746 cases and 8967 controls were included...
October 31, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29093435/recurrent-thrombosis-a-case-of-hereditary-thromboembolism
#4
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing...
November 2, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29062354/vitamin-b6-and-homocysteine-levels-in-carbamazepine-treated-epilepsy-of-khyber-pakhtunkhwa
#5
Shakirullah Shakir, Niaz Ali, Zia Udin, Haleema Nazish, Muhammad Nabi
OBJECTIVES: The study focused on the plasma levels of vitamin B6 and homocysteine in different genotypes of MTHFR (C677T, A1298C) and GABRG2 (C588T, C315T) genes in carbamazepine resistant epilepsy in the population of Khyber Pakhtunkhwa. METHODOLOGY: Patients who were possible candidates for carbamazepine therapy were followed for six months for their seizure control. Plasma levels of vitamin B6 and homocysteine were determined using immunoassay based techniques at baseline and after six months...
June 2017: African Health Sciences
https://www.readbyqxmd.com/read/29038711/study-of-the-c677t-and-1298ac-polymorphic-genotypes-of-mthfr-gene-in-autism-spectrum-disorder
#6
Farida El-Baz, Mohammed Abd El-Aal, Tarek Moustafa Kamal, Abdelrahim Abdrabou Sadek, Amr Ahmed Othman
BACKGROUND: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. AIM: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/28994615/mtrr-a66g-rfc1-g80a-and-mthfr-c677t-and-a1298c-polymorphisms-and-disease-activity-in-mexicans-with-rheumatoid-arthritis-treated-with-methotrexate
#7
Mirna Gisel González-Mercado, Fernando Rivas, M Patricia Gallegos-Arreola, M Cristina Morán-Moguel, Mario Salazar-Páramo, Laura González-López, J Iván Gámez-Nava, J Francisco Muñoz-Valle, Ricardo Medina-Coss Y León, Anahí González-Mercado, Mario A Aceves, Nory O Dávalos, Agustín Macías-Chumacera, Ingrid P Dávalos
AIM: To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX). MATERIALS AND METHODS: Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28)...
October 10, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28976125/in-human-alleles-specific-variation-of-mthfr-c677t-and-a1298c-associated-risk-factor-for-the-development-of-ovarian-cancer
#8
Anupama Singh, S Pandey, L K Pandey, Ajit K Saxena
Etiopathology of tumor biology is highly complex and ovarian cancer is one of the important gynaecological neoplasia associated with <b>high risk<b> of mortality rate. Methlenetetrahydrofolate reductase (MTHFR) mutation are commonly linked to folate metabolism with increased risk factor for the development of neural tube defects, recurrent pregnancy loss and development of several type of cancer but genetic interaction between two alleles of MTHFR has been poorly defined in ovarian cancer in India...
September 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28936998/venous-thromboembolism-due-to-hyperhomocysteinaemia-and-tuberculosis
#9
Ankush Chaudhary, Unnati Desai, Jyotsna M Joshi
An 18-year-old male presented to our hospital with complaints of episodic abdominal pain, dry cough and right pleuritic chest pain. He was diagnosed as a case of right tuberculous pleural effusion on the basis of the pleural fluid Genexpert report of Mycobacterium tuberculosis detected sensitive to rifampicin and was started on antituberculous therapy. Forty-five days later, he presented with acute onset breathlessness, swelling of the right leg, streaky haemoptysis and a fresh left-sided pleural effusion. Evaluation revealed venous thromboembolism (right lower lobar segment pulmonary embolism with right leg deep vein thrombosis)...
May 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/28915669/folate-metabolism-genetic-polymorphisms-and-meningioma-and-glioma-susceptibility-in-adults
#10
Dongming Chen, Jun Dong, Ying Huang, Feng Gao, Xiaopeng Yang, Xianglun Gong, Xiaochen Lv, Chenghao Chu, Yonggang Wu, Yong Zheng
Polymorphic variants of genes involved in folate metabolism are implicated in the susceptibility to meningioma and glioma, but the results from published articles are controversial and inconclusive. Therefore, we performed this meta-analysis including all studies available to evaluate the relationship between folate metabolism genetic polymorphisms and the susceptibility to meningioma and glioma in adults. We searched the literature in PubMed, EMBASE and Cochrane Central Library for relevant articles published up to August 2016...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28887233/methotrexate-pharmacogenetics-in-uruguayan-adults-with-hematological-malignant-diseases
#11
Andrea Giletti, Marcelo Vital, Mariana Lorenzo, Patricia Cardozo, Gabriel Borelli, Raúl Gabus, Lem Martínez, Lilian Díaz, Rodrigo Assar, María Noel Rodriguez, Patricia Esperón
BACKGROUND: Individual variability is among the causes of toxicity and interruption of treatment in acute lymphoblastic leukemia (ALL) and severe non-Hodgkin lymphoma (NHL) patients under protocols including Methotrexate (MTX): 2,4-diamino-N10-methyl propyl-glutamic acid. METHODS: 41 Uruguayan patients were recruited. Gene polymorphisms involved in MTX pathway were analyzed and their association with treatment toxicities and outcome was evaluated. RESULTS: Genotype distribution and allele frequency were determined for SLC19A1 G80A, MTHFR C677T and A1298C, TYMS 28bp copy number variation, SLCO1B1 T521C, DHFR C-1610G/T, DHFR C-680A, DHFR A-317G and DHFR 19bp indel...
September 5, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28862175/methylenetetrahydrofolate-reductase-a1298c-genetic-variant-risk-of-schizophrenia-a-meta-analysis
#12
REVIEW
Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil K Yadav, Sanjay Gupta
BACKGROUND & OBJECTIVES: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate metabolism, whose role in schizophrenia is debatable. Numerous case-control studies have investigated the association of MTHFR A1298C polymorphism with schizophrenia, but results are controversial. The aim of the present study was to find the association between MTHFR A1298C gene polymorphism and schizophrenia. METHODS: PubMed, Google Scholar, Science Direct and Springer link databases were searched for case-control association studies in which MTHFR A1298C polymorphism was investigated as a risk factor for schizophrenia...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28814189/association-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-gene-polymorphisms-with-recurrent-pregnancy-loss-in-syrian-women
#13
Walid Al-Achkar, Abdulsamad Wafa, Samer Ammar, Faten Moassass, Rami A Jarjour
C677T polymorphism of the methylenetetrahydrofolate reductase ( MTHFR) gene was a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of MTHFR A1298C polymorphism in RPL risk. This study was carried out to determine the influence of the MTHFR gene polymorphisms in RPL Syrian women. A case-control study was performed on 2 groups (106 healthy and 100 RPL women). The frequency of the MTHFR gene polymorphisms was determined by polymerase chain reaction based on restriction fragment length gene polymorphism...
September 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28734273/association-between-thrombophilic-genes-polymorphisms-and-recurrent-pregnancy-loss-susceptibility-in-the-iranian-population-a-systematic-review-and-meta-analysis
#14
Mahdieh Kamali, Sedigheh Hantoushzadeh, Sedigheh Borna, Hossein Neamatzadeh, Mahta Mazaheri, Mahmood Noori-Shadkam, Fatemeh Haghighi
Background: Studies have indicated that thrombophilic genes polymorphisms are associated with recurrent pregnancy loss (RPL) in the Iranian population. However, the results from these studies remained inconsistent and inconclusive. The aim of this systematic review and meta-analysis was to evaluate the precise association between thrombophilic genes polymorphisms (MTHFR C677T, MTHFR A1298C, Prothrombin G20210A, FVL G1691A, and PAI-1 4G/5G) and RPL risk in the Iranian population. Method: Electronic databases of PubMed, Web of Science, Google Scholar, and ISC were searched for eligible articles published up to April 1, 2017...
July 23, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28700981/folate-metabolism-genetic-polymorphisms-and-meningioma-and-glioma-susceptibility-in-adults
#15
Dongming Chen, Jun Dong, Ying Huang, Feng Gao, Xiaopeng Yang, Xianglun Gong, Xiaochen Lv, Chenghao Chu, Yonggang Wu, Yong Zheng
Polymorphic variants of genes involved in folate metabolism are implicated in the susceptibility to meningioma and glioma, but the results from published articles are controversial and inconclusive. Therefore, we performed this meta-analysis including all studies available to evaluate the relationship between folate metabolism genetic polymorphisms and the susceptibility to meningioma and glioma in adults. We searched the literature in PubMed, EMBASE and Cochrane Central Library for relevant articles published up to August 2016...
July 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28696419/associations-between-the-c677t-and-a1298c-polymorphisms-of-mthfr-and-the-toxicity-of-methotrexate-in-childhood-malignancies-a-meta-analysis
#16
C Zhu, Y W Liu, S Z Wang, X L Li, X L Nie, X T Yu, L B Zhao, X L Wang
As a common chemotherapy drug, methotrexate (MTX) has achieved remarkable clinical success. However, high inter-individual variability and unpredictable toxicity continue to challenge its use in clinical practices. Some studies suggest this variation is associated with a methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, but results remain unclear. In this meta-analysis, we include 14 studies that focus on MTHFR C677T and A1298C polymorphisms in pediatric patients with malignancy. We found significant associations of the MTHFR C677T polymorphism with hepatotoxicity (grade ⩾2; CC vs CT/TT: risk ratio (RR): 0...
July 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28689805/the-importance-of-folate-vitamins-b6-and-b12-for-the-lowering-of-homocysteine-concentrations-for-patients-with-recurrent-pregnancy-loss-and-mthfr-mutations
#17
Danielius Serapinas, Evelina Boreikaite, Agne Bartkeviciute, Rita Bandzeviciene, Mindaugas Silkunas, Daiva Bartkeviciene
In patients with MTHFR (methylenetetrahydrofolate reductase) mutations and hyperhomocysteinemia, recurrent pregnancy loss is a frequent feature. The aim of the study was to evaluate the impact of folic acid, vitamins B6 and B12 supplementation for the lowering of total homocysteine concentrations and pregnancy. 16 patients who had had 3 or more miscarriages and MTHFR mutations were used in the study. They received methylfolate (5mg/day), vitamin B6 (50mg/day) and vitamin B12 (1mg/week). Supplementation induced a decrease in homocysteine from 19...
September 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28646637/ts-gene-polymorphisms-correlate-with-susceptibility-to-acute-lymphocytic-leukemia-in-children
#18
Runyin Zou, Xiangling He, Yanpeng Wu, Xin Tian, Yalan You, Mincui Zheng, Wanli Li, Hui Zou, Hua Liu, Xiujuan Zhu, Chengguang Zhu
BACKGROUND Acute lymphocytic leukemia (ALL) in children is a clonal disease of bone marrow hematopoietic stem cells. This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. MATERIAL AND METHODS This case-control study included 79 ALL patients (case group) and 102 non-ALL patients (control group). Post-PCR genomic DNA sequencing revealed MTHFR C677T and MTHFR A1298C genotypes and TS polymorphisms. The χ² test was used to compare differences in MTHFR and TS polymorphisms (including genotypic and allelic distributions) between groups...
June 24, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28643815/-greater-saphenous-vein-thrombosis-and-testosterone-replacement-therapy-an-occasional-association
#19
Giorgio Bertola, Roberto Bianchi, Salvatore Giambona, Simona Sada, Sergio Antonio Berra
We describe a case of greater saphenous vein thrombosis in a 50-year-old previously healthy man, occurred only 3 weeks after starting testosterone (T) replacement therapy (20 mg/day, gel) for hypergonadotropic hypogonadism. There were no clinical known risk factors for thrombosis. Laboratory assessment of thrombophilia, performed later, revealed only methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism. On the basis of other recently reported cases, we suppose a relationship between androgenic therapy and venous thrombosis...
May 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/28607799/major-polymorphisms-of-genes-involved-in-homocysteine-metabolism-in-malaria-patients-in-ouagadougou-burkina-faso
#20
Noé Yameogo, Bapio Valérie Elvira Jean Télesphore Bazie, Abdoul Karim Ouattara, Pouiré Yameogo, Tegwinde Rebeca Compaore, Dorcas Obiri-Yeboah, Florencia Wenkuuni Djigma, Simplice Damintoti Karou, Jacques Simpore
This study analyzed the four main polymorphisms of the genes in homocysteine metabolism in malaria patients. Forty-two randomly selected subjects, diagnosed positive for Plasmodium falciparum, were included. The four genotypes were detected by real-time PCR using the MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, and MTRR 66A>G detection kit (Sacace Biotechnologies REF: T01002-96-S). The results revealed frequencies of 90% 677CC, 10% 677CT, and 00% 677TT for MTHFR C677T; 78.6% 1298AA, 19% 1298AC, and 2...
2017: Malaria Research and Treatment
keyword
keyword
107503
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"