Annotation Molecular genetics of methylenetetrahydrofolate reductase deficiency

No abstract is available for this paper.

• Publication year

  1996

• Venue

  Journal of Inherited Metabolic Disease

• Publication date

  1996-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF01799831
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Methylenetetrahydrofolate reductase.

  2001cited by this paper
• Genetic defect.

  2000cited by this paper
• Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease.

  1997cited by this paper
• Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians.

  1996cited by this paper
• Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid.

  1996cited by this paper
• Folate status is the major determinant of fasting total plasma homocysteine levels in maintenance dialysis patients.

  1996cited by this paper
• Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

  1996cited by this paper
• Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

  1996cited by this paper
• Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

  1995cited by this paper
• Homocysteine metabolism in pregnancies complicated by neural-tube defects.

  1995cited by this paper
• Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.

  1995cited by this paper
• A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects.

  1995cited by this paper
• Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

  1995cited by this paper
• A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes.

  1995cited by this paper
• A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

  1995cited by this paper
• Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

  1994cited by this paper
• Homocyst(e)ine and arterial occlusive diseases

  1994cited by this paper
• Maternal hyperhomocysteinemia: a risk factor for neural-tube defects?

  1994cited by this paper
• Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

  1991cited by this paper
• Disorders of transsulfuration

  1989cited by this paper
• Inherited disorders of folate transport and metabolism

  1989cited by this paper
• Methylenetetrahydrofolate reductase. Evidence for spatially distinct subunit domains obtained by scanning transmission electron microscopy and limited proteolysis.

  1984cited by this paper
• Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.

  1969cited by this paper

• MTHFR as a Novel Candidate Marker for Litter Size in Rabbits

  2024cites this paper
• Effects of gene polymorphisms on delayed MTX clearance, toxicity, and metabolomic changes after HD-MTX treatment in children with acute lymphoblastic leukemia

  2023cites this paper
• MTHFR Gene Polymorphism Association With Psoriatic Arthritis Risk and the Efficacy and Hepatotoxicity of Methotrexate in Psoriasis

  2022cites this paper
• Involvement of MTHFR rs1801133 in the Susceptibility of Acute Lymphoblastic Leukemia: A Preliminary Study

  2020cites this paper
• Involvement of C677T MTHFR variant but not A1298C in methotrexate-induced toxicity in acute lymphoblastic leukemia

  2020cites this paper
• Implication of Hyperhomocysteinemia in Blood Retinal Barrier (BRB) Dysfunction

  2020cites this paper
• Ethnogeographic prevalence and implications of the 677C>T and 1298A>C MTHFR polymorphisms in US primary care populations.

  2019cites this paper
• The clinical presentation of cobalamin‐related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways

  2019cites this paper
• Altered methyltetrahydrofolate reductase gene polymorphism in mothers of children with attention deficit and hyperactivity disorder

  2019cites this paper
• Nutritional Deficiencies, Bariatric Surgery, and Serum Homocysteine Level: Review of Current Literature

  2019cites this paper
• Molecular causes of sex‐specific deficits in rodent models of neurodevelopmental disorders

  2019cites this paper
• Association of MTHFR C677T and ABCA1 G656A polymorphisms with obesity among Egyptian children

  2018cites this paper
• Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

  2018cites this paper
• Polymorphisms of MTHFR C677T and A1298C associated with survival in patients with colorectal cancer treated with 5-fluorouracil-based chemotherapy

  2017cites this paper
• Impact of Genetic Variants of ATP Binding Cassette B1, AICAR Transformylase/IMP Cyclohydrolase, Folyl-polyglutamate Synthetase, and Methylenetetrahydrofolate Reductase on Methotrexate Toxicity

  2017cites this paper
• MTHFR A1298C and C677T Polymorphisms Are Associated with Increased Risk of Venous Thromboembolism: A Retrospective Chart Review Study

  2017cites this paper
• Homocysteine and Atherogenic lipid profile as Markers of Atherotherombatic Disease among Sudanese Patients with Diabetes Mellitus

  2017cites this paper
• The methylenetetrahydrofolate reductase 677T-1298C haplotype is a risk factor for acute lymphoblastic leukemia in children

  2017cites this paper
• A Computational Approach to Identify the Biophysical and Structural Aspects of Methylenetetrahydrofolate Reductase (MTHFR) Mutations (A222V, E429A, and R594Q) Leading to Schizophrenia.

  2017cites this paper
• Impact of genetic variants of ATP binding cassette B1, AICAR transformylase/IMP cyclohydrolase, folyl-polyglutamatesynthetase, and methylenetetrahydrofolatereductase on methotrexate toxicity.

  2017cites this paper
• No correlation between MTHFR c.677 C > T, MTHFR c.1298 A > C, and ABCB1 c.3435 C > T polymorphisms and methotrexate therapeutic outcome of rheumatoid arthritis in West Algerian population

  2017cites this paper
• Making Sense of Epigenetics

  2016cites this paper
• MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature

  2016cites this paper
• High frequency of the 3R/3R polymorphism in the thymidylate synthase enhancer region in Indonesian childhood acute lymphoblastic leukemia

  2016cites this paper
• Simultaneous tromboembolic events in a patient with

  2015cites this paper
• Additive effect of MTHFR and GRIN1 genetic polymorphisms on the risk of schizophrenia

  2015cites this paper
• Methylene tetra hydrofolate Reductase C677T Gene Polymorphism in Heroin

  2015cites this paper
• Association Between MTHFR Genetic Variants and Multiple Sclerosis in a Southern Iranian Population

  2015cites this paper
• Pharmacogenetics: can genes determine treatment efficacy and safety in JIA?

  2014cites this paper
• MTHFR Gene Polymorphism and Age of Onset of Schizophrenia and Bipolar Disorder

  2014cites this paper
• The Effect of an Indigenous Drug on Abnormal Folate Metabolism and Intellectual Disability : A Study of 5 , 10-Methylenetetrahydrofolate Reductase Activity *

  2014cites this paper
• Polymorphism of methylenetetrahydrofolate reductase gene is associated with response to fluorouracil‐based chemotherapy in Chinese patients with gastric cancer

  2014cites this paper
• Chapter 29 – Rheumatoid Arthritis

  2014cites this paper
• Pharmakogenetik bei juveniler idiopathischer Arthritis

  2014cites this paper
• MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot.

  2014cites this paper
• The Role and Postulated Biochemical Mechanism of L-Methylfolate Augmentation in Major Depression: A Case-Report

  2014cites this paper
• Methylenetetrahydrofolate reductase (MTHFR) genetic variation and major depressive disorder prognosis: A five‐year prospective cohort study of primary care attendees

  2014cites this paper
• Mutations Involving RBP4 and SOX3 Underlie Two Novel Forms of Congenital Eye Malformations.

  2014cites this paper
• Homocysteine and MTHFR C677T polymorphism in children and adolescents with psychotic and mood disorders

  2014cites this paper
• Association of Genetic Variants of MTHFR, ENPP1, and ADIPOQ with Myocardial Infarction in Egyptian Patients

  2013cites this paper
• Prevalence of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in Egyptian patients with type 2 diabetes mellitus

  2013cites this paper
• INVESTIGAÇÃO DE POLIMORFISMOS NOS GENES XRCC1, MTHFR E EGFR COMO POSSÍVEIS MARCADORES DE SUSCETIBILIDADE AO CÂNCER, NA POPULAÇÃO DE BELÉM-PA

  2013cites this paper
• Pharmacogenetics of disease-modifying antirheumatic drugs in rheumatoid arthritis: towards personalized medicine.

  2013cites this paper
• Znaczenie polimorfizmu wybranych genów związanych z metabolizmem folianów w rozwoju hipotrofii płodu

  2013cites this paper
• Association between polymorphism of MTHFR c.677C>T and risk of cardiovascular disease in Turkish population: a meta-analysis for 2.780 cases and 3.022 controls

  2013cites this paper
• Genetic risk factors for drug-induced liver injury in rheumatoid arthritis patients using low-dose methotrexate.

  2013cites this paper
• Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects

  2012cites this paper
• Acute Administration of l-Dopa Induces Changes in Methylation Metabolites, Reduced Protein Phosphatase 2A Methylation, and Hyperphosphorylation of Tau Protein in Mouse Brain

  2012cites this paper
• Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome

  2012cites this paper
• Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC).

  2012cites this paper
• Methylene tetrahydrofolate reductase gene polymorphisms and their association with methotrexate toxicity: a meta-analysis

  2012cites this paper
• Elevated Serum Levels of Homocysteine as an Early Prognostic Factor of Psychiatric Disorders in Children and Adolescents

  2012cites this paper
• Association of the C677T Polymorphism in the Human Methylenetetrahydrofolate Reductase (MTHFR) Gene with the Genetic Predisposition for Type 2 Diabetes Mellitus in a Moroccan Population

  2012cites this paper
• Folate supplementation in schizophrenia: a possible role for MTHFR genotype.

  2011cites this paper
• Pharmacogenetics of psoriasis.

  2011cites this paper
• Methylenetetrahydrofolate Reductase Gene Polymorphisms in Children with Attention Deficit Hyperactivity Disorder

  2011cites this paper
• Homocysteine-induced cardiomyocyte apoptosis and plasma membrane flip-flop are independent of S-adenosylhomocysteine: a crucial role for nuclear p47phox

  2011cites this paper
• C677T Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism in Schizophrenia and Bipolar Disorder: An Association Study in Iranian Population

  2011cites this paper
• Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease.

  2011cites this paper
• Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).

  2011cites this paper
• Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.

  2011cites this paper
• Relationship between three polymorphisms of methylenetetrahydrofolate reductase (MTHFR C677T, A1298C, and G1793A) gene and risk of prostate cancer: A case–control study

  2010cites this paper
• The Bipolar Association Case–Control Study (BACCS) and meta‐analysis: No association with the 5,10‐Methylenetetrahydrofolate reductase gene and bipolar disorder

  2010cites this paper
• Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients.

  2010cites this paper
• Associations between the genetic polymorphisms of MTHFR and outcomes of methotrexate treatment in rheumatoid arthritis.

  2010cites this paper
• Frequency of the Methylenetetrahydrofolate REDUCTASE 677CT and 1298AC mutations in an Iranian Turkish female population.

  2010cites this paper
• Pharmacogenetics of fluoropyrimidine and cisplatin. A future application to gastric cancer treatment

  2009cites this paper
• The effect of 677C>T and 1298A>C MTHFR polymorphisms on sulfasalazine treatment outcome in rheumatoid arthritis.

  2009cites this paper
• ANALYSIS OF GENETIC MARKERS FOR CARDIOVA DISORDERS IN A PORT UGUESE POPULATION WI FAMILIAL HYPERCHOLESTEROLEMIA

  2009cites this paper
• Metaanalysis of Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms Affecting Methotrexate Toxicity

  2009cites this paper
• Ustekinumab and ABT-874

  2008cites this paper
• No association with the 5,10‐methylenetetrahydrofolate reductase gene and major depressive disorder: Results of the depression case control (DeCC) study and a meta‐analysis

  2008cites this paper
• Effect of the methylenetetrahydrofolate reductase gene polymorphisms on homocysteine, folate and vitamin B12 in patients with bipolar disorder and relatives.

  2008cites this paper
• Pharmacogenomics in rheumatoid arthritis.

  2008cites this paper
• 677C>T and 1298A>C MTHFR polymorphisms affect methotrexate treatment outcome in rheumatoid arthritis.

  2007cites this paper
• Methylenetetrahydrofolate reductase (MTHFR) variants and fluorouracil-based treatments in colorectal cancer.

  2007cites this paper
• The pharmacogenetics of methotrexate.

  2007cites this paper
• Methylenetetrahydrofolate reductase C677T and A1298C gene variants in adult non-Hodgkin's lymphoma patients: association with toxicity and survival.

  2007cites this paper
• Infant C677T MTHFR polymorphism and severe mental retardation.

  2007cites this paper
• Colorectal cancer therapeutics and the challenges of applied pharmacogenomics.

  2007cites this paper
• Investigations into arsenate-induced neural tube defects in a mouse model

  2007cites this paper
• Effects of Methylenetetrahydrofolate Reductase and Reduced Folate Carrier 1 Polymorphisms on High-Dose Methotrexate-Induced Toxicities in Children With Acute Lymphoblastic Leukemia or Lymphoma

  2006cites this paper
• Delayed neurotoxicity associated with therapy for children with acute lymphoblastic leukemia.

  2006cites this paper
• Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review.

  2006cites this paper
• The potential of pharmacogenetics in optimizing the use of methotrexate for psoriasis

  2005cites this paper
• Predicting drug response and toxicity based on gene polymorphisms.

  2005cites this paper
• Maternal and neonatal MTHFR-C677T mutation: A case report

  2005cites this paper
• Brief communication Cerebral folate deWciency: life-changing supplementation with folinic acid

  2005cites this paper
• Cerebral folate deficiency: life-changing supplementation with folinic acid.

  2005cites this paper
• Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms: relationships with 5-fluorouracil sensitivity

  2004cites this paper
• Epigenetics and human disease.

  2004cites this paper
• Specifically associated PCR products probed by coincident detection of two-color cross-correlated fluorescence intensities in human gene polymorphisms of methylene tetrahydrofolate reductase at site C677T: a novel measurement approach without follow-up mathematical analysis.

  2004cites this paper
• Investigations into the etiology of neural tube defects.

  2004cites this paper
• Sulfur containing amino acids and human disease.

  2004cites this paper
• Pharmacogenomic approaches to therapies in rheumatic diseases

  2004cites this paper
• Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients.

  2004cites this paper
• Will pharmacogenetics allow better prediction of methotrexate toxicity and efficacy in patients with rheumatoid arthritis?

  2003cites this paper
• The association of homocysteine and coronary artery disease

  2003cites this paper
• Heterogeneity in the prevalence of methylenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups.

  2003cites this paper
• Effects of the C677T and A1298C polymorphisms of the MTHFR gene on the genetic predisposition for diabetic nephropathy.

  2003cites this paper