Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
about
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuriaFunctionally null mutations in patients with the cblG-variant form of methionine synthase deficiencyIdentification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173LGenetic polymorphisms influencing arsenic metabolism: evidence from ArgentinaNavigating the B(12) road: assimilation, delivery, and disorders of cobalaminStructures of the N-terminal modules imply large domain motions during catalysis by methionine synthasePotential Links between Impaired One-Carbon Metabolism Due to Polymorphisms, Inadequate B-Vitamin Status, and the Development of Alzheimer's DiseaseCharacterization of functional domains of the cblD (MMADHC) gene productMethionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndromeHuman ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductaseTargeted disruption of the methionine synthase gene in miceGenetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesHearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study.Inborn errors of cobalamin absorption and metabolism.Association of genetic polymorphism in the folate metabolic pathway with methotrexate pharmacokinetics and toxicity in childhood acute lymphoblastic leukaemia and malignant lymphoma.Global analysis of transcriptional regulation by poly(ADP-ribose) polymerase-1 and poly(ADP-ribose) glycohydrolase in MCF-7 human breast cancer cellsEvaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndromeEvaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.Glutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein.Homocysteine.Total homocysteine and cardiovascular disease.Genetic variation in the folate metabolic pathway and risk of childhood leukemia.Plasma folate, related genetic variants, and colorectal cancer risk in EPIC.Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil.Prevalence of MTHFR C677T and MS A2756G polymorphisms in major depressive disorder, and their impact on response to fluoxetine treatment.Therapeutic potential of total homocysteine-lowering drugs on cardiovascular disease.MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancerRedundancy in the pathway for redox regulation of mammalian methionine synthase: reductive activation by the dual flavoprotein, novel reductase 1.Update and new concepts in vitamin responsive disorders of folate transport and metabolism.Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.Update on selected inherited venous thrombotic disorders.Pharmacogenetics and folate metabolism -- a promising direction.Lack of association between methionine synthase A2756G polymorphism and digestive system cancer risk: evidence from 3,9327 subjects.Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.Spectroscopic study of the cobalamin-dependent methionine synthase in the activation conformation: effects of the Y1139 residue and S-adenosylmethionine on the B12 cofactor.MAT1A variants modulate the effect of dietary fatty acids on plasma homocysteine concentrations.Genetic interactions between MTHFR (C677T), methionine synthase (A2756G, C2758G) variants with vitamin B12 and folic acid determine susceptibility to premature coronary artery disease in Indian population.DACH-LIGA homocystein (german, austrian and swiss homocysteine society): consensus paper on the rational clinical use of homocysteine, folic acid and B-vitamins in cardiovascular and thrombotic diseases: guidelines and recommendations.Gene-gene and gene-environment interactions in mild hyperhomocysteinemia.
P2860
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P2860
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
description
1996 nî lūn-bûn
@nan
1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@ast
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@en
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@en-gb
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@nl
type
label
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@ast
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@en
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@en-gb
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@nl
prefLabel
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@ast
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@en
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@en-gb
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@nl
P2093
P4510
P921
P356
P1476
Human methionine synthase: cDN ...... of folate/cobalamin disorders
@en
P2093
B Christensen
C E Adjalla
D S Rosenblatt
R A Gravel
P304
P356
10.1093/HMG/5.12.1867
P407
P577
1996-12-01T00:00:00Z