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https://www.readbyqxmd.com/read/28097321/diagnostic-yield-and-novel-candidate-genes-by-exome-sequencing-in-152-consanguineous-families-with-neurodevelopmental-disorders
#1
Miriam S Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B Ekici, Mandy Krumbiegel, Christiane Zweier, Juliane Hoyer, Karolin Eberlein, Judith Bauer, Ute Scheller, Tim M Strom, Sabine Hoffjan, Ehab R Abdelraouf, Nagwa A Meguid, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Ebtessam Abdallah, Heinrich Sticht, Dagmar Wieczorek, André Reis, Rami Abou Jamra
Importance: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives: To promote the identification of disease genes through confirmation of previously described genes and presentation of novel candidates and provide an overview of the diagnostic yield of exome sequencing in consanguineous families. Design, Setting, and Participants: Autozygosity mapping in families and exome sequencing of index patients were performed in 152 consanguineous families (the parents descended from a same ancestor) with at least 1 offspring with intellectual disability (ID)...
January 11, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28086795/atherosclerotic-and-thrombotic-genetic-and-environmental-determinants-in-egyptian-coronary-artery-disease-patients-a-pilot-study
#2
Manal S Fawzy, Eman A Toraih, Nagwa M Aly, Abeer Fakhr-Eldeen, Dahlia I Badran, Mohammad H Hussein
BACKGROUND: Coronary artery disease (CAD) is the leading cause of morbidity and mortality worldwide. Multiple genetic variants in combination with various environmental risk factors have been implicated. This study aimed to investigate the association of twelve thrombotic and atherosclerotic gene variants in combination with other environmental risk factors with CAD risk in a preliminary sample of Egyptian CAD patients. METHODS: Twenty three consecutive CAD patients undergoing diagnostic coronary angiography and 34 unrelated controls, have been enrolled in the study...
January 13, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28028860/possible-association-between-germline-methylenetetrahydrofolate-reductase-gene-polymorphisms-and-psoriasis-risk-in-a-turkish-population
#3
S Kilic, O Ozdemir, F Silan, S Isik, O Yildiz, D Karaagacli, C Silan, Z Ogretmen
BACKGROUND: Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association. AIM: To investigate the association between the germline MTHFR polymorphisms C677T and A1298C with psoriasis risk in a Turkish population. METHODS: The study enrolled 84 patients with psoriasis and 212 healthy controls (HCs) without any history of psoriasis...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27984609/-study-of-polymorphisms-of-genes-related-to-folic-acid-metabolism-among-women-of-child-bearing-age-from-shanxi
#4
Na Liang, Yang Deng, Yongan Zhou
OBJECTIVE: To analyze polymorphisms of genes related to folic acid metabolism among women of child-bearing age from Shanxi. METHODS: Buccal smears were collected from 1070 women of child bearing age with cotton swabs. Sequences of MTHFR C667T and A1298C, MTRR A66G, and SLC19A1 A80G were determined by DNA sequencing. The results were compared with data from other regions of China. RESULTS: For MTHFR C667T, the wild type homozygote, heterozygous mutants, and homozygous mutants have respectively accounted for 20...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27966457/meta-prediction-of-mthfr-gene-polymorphism-mutations-air-pollution-and-risks-of-leukemia-among-world-populations
#5
Shin-Yu A Lien, Lufei Young, Bih-Shya Gau, S Pamela K Shiao
The major objective of this study was to examine the association between Methylenetetrahydrofolate Reductase (MTHFR) polymorphisms and the risk of various types of leukemias across the lifespans of children and adults by using the meta-predictive techniques. The secondary objective was to examine the interactions among epigenetic risk factors (including air pollution), MTHFR polymorphisms, and the risks of developing leukemia. We completed a comprehensive search of 6 databases to find 54 studies (10,033 leukemia cases and 15,835 controls) for MTHFR 677, and 43 studies (8,868 cases and 14,301 controls) for MTHFR 1298, published from 1999 to 2014...
December 10, 2016: Oncotarget
https://www.readbyqxmd.com/read/27933413/investigation-on-genetic-thrombophilic-factors-in-ffpe-autopsy-tissue-from-subjects-who-died-from-pulmonary-embolism
#6
Francesco Brandimarti, Federica Alessandrini, Mauro Pesaresi, Chiara Catalani, Letizia De Angelis, Roberta Galeazzi, Simona Giovagnetti, Rosaria Gesuita, Elisa Righi, Raffaele Giorgetti, Adriano Tagliabracci
Venous thromboembolism (VTE) is a multifactorial disease determined by a combination of inherited and acquired factors. Inherited factors include mutations in the genes coding for coagulation factors, some of which seem to exert a differential influence on the risk of developing deep vein thrombosis (DVT) and pulmonary embolism (PE). In post-mortem studies of subjects who have died from pulmonary embolism (PE), the analysis of the factors that may have augmented the VTE risk is often limited to acquired factors...
December 9, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27905385/-a-role-of-genetic-factors-and-related-disorder-of-the-folate-cycle-in-ischemic-stroke
#7
V M Shklovsky, I P Lukashevich, A Yu Remennik, S M Gerasimova, G S Selishchev, D I Malin, V V Valyaeva
AIM: To study a role of MTHFR mutations and their associations with the disturbances of basic parameters of the folate cycle in the development of ischemic stroke (IS). MATERIAL AND METHODS: Fifty-one post-stroke patients, 26 women and 25 men, aged from 29 to 87 years, were included in the study. The control group consisted of 47 healthy people, 23 women and 24 men, aged from 30 to 83 years. MTHFR: rs1801131 and rs1801133 polymorphisms were genotyped. Contents of folate, B12 and homocysteine were measured...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27855570/genetics-of-suspected-thrombophilia-in-serbian-females-with-infertility-including-three-cases-homozygous-for-fii-20210a-or-fv-1691a-mutations
#8
Jelena Djurovic, Oliver Stojkovic, Jelena Todorovic, Aleksandra Brajic, Sanja Stankovic, Svetlana Obradovic, Gorana Stamenkovic
Reproductive failure (recurrent foetal loss, unexplained infertility and IVF implantation failure) may be, in a number of cases, explained by thrombophilia, either acquired or inherited. Several genes contribute to thrombophilia, some with major effect (Factor V, Factor II), and some with minor effect (MTHFR, PAI-1, ATIII, etc.). The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group...
November 18, 2016: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/27845948/5-fluorouracil-degradation-rate-could-predict-toxicity-in-stages-ii-iii-colorectal-cancer-patients-undergoing-adjuvant-folfox
#9
Concetta E Onesti, Andrea Botticelli, Marco La Torre, Marina Borro, Giovanna Gentile, Adriana Romiti, Luana Lionetto, Antonella Petremolo, Mario Occhipinti, Michela Roberto, Rosa Falcone, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
5-Fluorouracil is commonly used for gastrointestinal cancer treatment in an adjuvant setting; however, the toxicity can lead to a reduction, delay, or discontinuation of treatment. We retrospectively investigated the association between the 5-fluorouracil degradation rate (5-FUDR) and genetic polymorphisms of TSER, DPYD, and MHTFR with toxicity in colorectal cancer patients treated with adjuvant FOLFOX. Pretreatment 5-FUDR and MTHFR A1298T or C677T, TSER, and DPYD gene polymorphisms were characterized in stages II-III colorectal cancer patients...
November 11, 2016: Anti-cancer Drugs
https://www.readbyqxmd.com/read/27820879/heparin-for-the-treatment-of-thrombosis-in-neonates
#10
REVIEW
Olga Romantsik, Matteo Bruschettini, Simona Zappettini, Luca Antonio Ramenghi, Maria Grazia Calevo
BACKGROUND: Among pediatric patients, newborns are at highest risk of developing thromboembolism. Neonatal thromboembolic (TE) events may consist of both venous and arterial thromboses and often iatrogenic complications (eg, central catheterization). Treatment guidelines for pediatric patients with TE events most often are extrapolated from the literature regarding adults. Options for the management of neonatal TE events include expectant management; nitroglycerin ointment; thrombolytic therapy or anticoagulant therapy, or a combination of the two; and surgery...
7, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27805340/heterozygous-mthfr-a1298c-mutation-causing-cerebral-venous-sinus-thrombosis
#11
Jimil H Shah, Kaustubh D Salagre, Ravindra Nath Sahay, Abhinav Anand
A 21 year college student came with a history of generalized tonic-clonic seizures. MR Venography revealed the presence of left sigmoid and transverse sinus thrombosis with secondary venous hemorrhagic infarcts. After thorough investigation into cause of thrombosis patient was found to have a heterozygous MTHFR A1298C mutation which was causing cerebral venous sinus thrombosis.
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27805237/the-role-of-genetics-in-coronary-artery-bypass-surgery-patients-under-30-years-of-age
#12
Sabit Sarikaya, Ebuzer Aydin, Yucel Ozen, Tanil Ozer, Kaan Kirali, Murat Bulent Rabus
AIM: We undertook genetic assessment of coronary artery disease (CAD) in 20 patients aged 30 years or less undergoing coronary artery bypass grafting (CABG) surgery, to investigate the prognostic value of pre-defined genes. METHODS: Twenty patients, who underwent CABG surgery between December 2001 and May 2013, were retrospectively analysed to find out the role their genetic make-up played in their disease. We used three genetic diagnostic tests, the plasminogen activator inhibitor (PAI) -1 gene, the A1/A2 polymorphism of glycoprotein IIIa (GpIIIa) gene, and common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene...
October 21, 2016: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/27785407/frequency-and-association-of-1691-g-a-fvl-20210-g-a-pt-and-677-c-t-mthfr-with-deep-vein-thrombosis-in-the-population-of-bosnia-and-herzegovina
#13
A Jusić-Karić, R Terzić, Z Jerkić, A Avdić, M Pođanin
The 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27759448/toward-optimal-set-of-single-nucleotide-polymorphism-investigation-before-ivf
#14
A V Ivanov, A G Dedul, Y N Fedotov, E V Komlichenko
BACKGROUND: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP...
October 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27743313/functional-characterization-of-missense-mutations-in-severe-methylenetetrahydrofolate-reductase-deficiency-using-a-human-expression-system
#15
Patricie Burda, Terttu Suormala, Dorothea Heuberger, Alexandra Schäfer, Brian Fowler, D Sean Froese, Matthias R Baumgartner
5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the NADPH-dependent reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate using FAD as the cofactor. Severe MTHFR deficiency is the most common inborn error of folate metabolism, resulting in hyperhomocysteinemia and homocystinuria. Approximately 70 missense mutations have been described that cause severe MTHFR deficiency, however, in most cases their mechanism of dysfunction remains unclear. Few studies have investigated mutational specific defects; most of these assessing only activity levels from a handful of mutations using heterologous expression...
October 14, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27734511/review-article-the-aetiology-of-primary-budd-chiari-syndrome-differences-between-the-west-and-china
#16
REVIEW
X Qi, G Han, X Guo, V De Stefano, K Xu, Z Lu, H Xu, A Mancuso, W Zhang, X Han, D C Valla, D Fan
BACKGROUND: China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. AIM: To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China...
December 2016: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/27729560/thrombophilic-gene-mutations-in-relation-to-different-manifestations-of-venous-thromboembolism-a-single-tertiary-center-study
#17
Tahir Bezgin, Cihangir Kaymaz, Özgür Akbal, Fatih Yılmaz, Hacer Ceren Tokgöz, Nihal Özdemir
BACKGROUND: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the role of inherited thrombophilia as a causative or additive factor in the development of VTE. METHODS: The study included 310 patients (female: 154; mean age: 52.3 ± 16.9 years) with a first episode of VTE and 289 age- and sex-matched healthy controls...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27725412/folate-deficiency-was-associated-with-increased-alanine-aminotransferase-and-glutamyl-transpeptidase-concentrations-in-a-chinese-hypertensive-population-a-cross-sectional-study
#18
Wen-Xing Li, Wei Li, Jia-Qian Cao, Haiyue Yan, Yuanyuan Sun, Hong Zhang, Qiang Zhang, Ling Tang, Manman Wang, Jing-Fei Huang, Dahai Liu
Alanine aminotransferase (ALT), aspartate transaminase (AST), and glutamyl transpeptidase (GGT) were three key enzymes in the hepatic metabolism. This study aimed to investigate the effect of homocysteine (Hcy) metabolism gene polymorphisms and serum Hcy and folate level on the hepatic functions in a Chinese hypertensive population. A representative sample with 480 subjects aged 28-75 was enrolled in 2005.9-2005.12 from six hospitals in different Chinese regions. Serum ALT, AST and GGT were measured by using an automatic biochemistry analyzer...
2016: Journal of Nutritional Science and Vitaminology
https://www.readbyqxmd.com/read/27713094/genetic-variation-associated-with-the-occurrence-and-progression-of-neurological-disorders
#19
Julian Little, Caroline Barakat-Haddad, Rosemary Martino, Tamara Pringsheim, Helen Tremlett, Kyla A McKay, Pascal van Lieshout, Stephanie J Walsh, James Gomes, Daniel Krewski
This paper presents an overview of genetic variation associated with the onset and progression of 14 neurological disorders, focusing primarily on association studies. The 14 disorders are heterogeneous in terms of their frequency, age of onset, etiology and progression. There is substantially less evidence on progression than onset. With regard to onset, the conditions are diverse in terms of their epidemiology and patterns of familial aggregation. While the muscular dystrophies and Huntington's disease are monogenic diseases, for the other 12 conditions only a small proportion of cases is associated with specific genetic syndromes or mutations...
October 3, 2016: Neurotoxicology
https://www.readbyqxmd.com/read/27706773/relationship-between-genetic-polymorphisms-of-methylenetetrahydrofolate-reductase-and-breast-cancer-chemotherapy-response
#20
L Yang, X W Wang, L P Zhu, H L Wang, B Wang, T Wu, Q Zhao, D L X T JinSiHan, X Y Wang
Activity of methylenetetrahydrofolate reductase (MTHFR), an enzyme involved in folate metabolism, is influenced by mutations in the corresponding gene, contributing to a decrease in 5,10-MTHF. Due to such polymorphisms, individuals differ in MTHFR enzyme activity and plasma folate levels. We investigated the relationship between two common MTHFR polymorphisms (C677T and A1298C) and breast cancer (BC) chemotherapy response. From February 2013 to January 2016, 148 advanced BC patients at the Center Hospital of Cangzhou were enrolled and treated with six different chemotherapy regimens...
September 23, 2016: Genetics and Molecular Research: GMR
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