Associated Papers
Unraveling the impact of ORF3a Q57H mutation on SARS-CoV-2: insights from molecular dynamics.
Islam MJ et al.
Journal of Biomolecular Structure & Dynamics, 2024
Single-Nucleotide Polymorphisms Associated with Mercury Levels and Neurological Symptoms: An Overview.
Perini JA et al.
Toxics, 2024
Genetic susceptibility of bladder cancer in the Lebanese population.
Kourie HR et al.
Bmc Medical Genomics, 2022
MTHFR Gene-Polymorphism and Infertile Men in Indian Population: A Systematic Literature Review.
More A et al.
Cureus, 2022
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Shifting landscapes of human MTHFR missense-variant effects.
Weile J et al.
American Journal of Human Genetics, 2021
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD).
Raina JK et al.
Bmc Cardiovascular Disorders, 2020
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
MTHFR genetic polymorphism and the risk of intrauterine fetal death in Polish women.
Wolski H et al.
Ginekologia Polska, 2019
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Dagar V et al.
Clinical Epigenetics, 2018
Human MTHFR-G1793A transition may be a protective mutation against male infertility: a genetic association study and in silico analysis.
Karimian M et al.
Human Fertility (cambridge, England), 2018
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.
Fang Y et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
Burda P et al.
Journal of Inherited Metabolic Disease, 2017
A Computational Approach to Identify the Biophysical and Structural Aspects of Methylenetetrahydrofolate Reductase (MTHFR) Mutations (A222V, E429A, and R594Q) Leading to Schizophrenia.
Tanwar H et al.
Advances in Protein Chemistry and Structural Biology, 2017
Contribution of inherited thrombophilia to recurrent miscarriage in the Polish population.
Wolski H et al.
Ginekologia Polska, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.
Knowles L et al.
Jimd Reports, 2016
Folate-mediated one-carbon metabolism genes and interactions with nutritional factors on colorectal cancer risk: Women's Health Initiative Observational Study.
Cheng TY et al.
Cancer, 2015
Variants in MTHFR gene and neural tube defects susceptibility in China.
Wang Y et al.
Metabolic Brain Disease, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P et al.
Human Mutation, 2015
Circulating atrial natriuretic peptide genetic association study identifies a novel gene cluster associated with stroke in whites.
Pereira NL et al.
Circulation. Cardiovascular Genetics, 2015
Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.
Igartua C et al.
Nature Communications, 2015
Pharmacogenetics of pemetrexed combination therapy in lung cancer: pathway analysis reveals novel toxicity associations.
Corrigan A et al.
The Pharmacogenomics Journal, 2014
Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.
Joslin AC et al.
Genes & Nutrition, 2014
MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot.
Huang J et al.
Biomedical Reports, 2014
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
Gene-diet-interactions in folate-mediated one-carbon metabolism modify colon cancer risk.
Liu AY et al.
Molecular Nutrition & Food Research, 2013
Significant impact of the MTHFR polymorphisms and haplotypes on male infertility risk.
Gupta N et al.
Plos One, 2013
Rare allelic variants determine folate status in an unsupplemented European population.
Pavlíková M et al.
The Journal of Nutrition, 2012
Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.
Aneji CN et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India.
Godbole K et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011
Polymorphisms of methylenetetrahydrofolate reductase are not a risk factor for Kawasaki disease in the Korean population.
Yoon KL et al.
Korean Journal of Pediatrics, 2011
Folate-metabolizing gene variants and pregnancy outcome of IVF.
Laanpere M et al.
Reproductive Biomedicine Online, 2011
Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations.
Curtin K et al.
International Journal of Molecular Epidemiology and Genetics, 2011
Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population.
Bufalino A et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2010
[The relationship of methylenetetrahydrofolate reductase G1793A gene polymorphism, hyperhomocysteinaemia and ulcerative colitis].
Jiang Y et al.
Zhonghua Nei Ke Za Zhi, 2010
[No association between MTHFR 677C>T polymorphism and ovarian cancer risk in BRCA1 mutation carriers in Wielkopolska region].
Magnowski P et al.
Ginekologia Polska, 2010
Variations in folate pathway genes are associated with unexplained female infertility.
Altmäe S et al.
Fertility and Sterility, 2010
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.
Forges T et al.
Molecular Genetics and Metabolism, 2010
Genetic polymorphism of methylenetetrahydrofolate reductase G1793A, hyperhomocysteinemia, and folate deficiency correlate with ulcerative colitis in central China.
Jiang Y et al.
Journal of Gastroenterology and Hepatology, 2010
The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.
Marini NJ et al.
Plos Genetics, 2010
The effects of polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) on the risk of cervical intraepithelial neoplasia and cervical cancer in Korean women.
Tong SY et al.
Cancer Causes & Control : Ccc, 2010