The prevalence of folate-remedial MTHFR enzyme variants in humans. - Wikidata - awgldk - TriplyDB

The prevalence of folate-remedial MTHFR enzyme variants in humans.

The prevalence of folate-remedial MTHFR enzyme variants in humans.

http://www.wikidata.org/entity/Q36725681

about

MTHFR C677T and MTR A2756G polymorphisms and the homocysteine lowering efficacy of different doses of folic acid in hypertensive Chinese adults Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients Genetics of Common Antipsychotic-Induced Adverse Effects Efforts to make and apply humanized yeast A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.Reconstitution of the mitochondrial calcium uniporter in yeast Detecting association of rare and common variants based on cross-validation prediction error.Common vs. rare allele hypotheses for complex diseases The Micronutrient Genomics Project: a community-driven knowledge base for micronutrient research.Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population Properties and modeling of GWAS when complex disease risk is due to non-complementing, deleterious mutations in genes of large effect.Test of rare variant association based on affected sib-pairs.Association studies for next-generation sequencing.Associations of Polymorphisms in MTHFR Gene with the Risk of Age-Related Cataract in Chinese Han Population: A Genotype-Phenotype Analysis.Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele Mutability and mutational spectrum of chromosome transmission fidelity genes Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets.STUbLs in chromatin and genome stability.An extended set of yeast-based functional assays accurately identifies human disease mutations.Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro.Nutritional control of epigenetic processes in yeast and human cells Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility.Statistical analysis strategies for association studies involving rare variants.Epigenetics and the environment: emerging patterns and implications.Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.A powerful approach to test an optimally weighted combination of rare variants in admixed populations.Relevance of G-quadruplex structures to pharmacogenetics.Surrogate genetics and metabolic profiling for characterization of human disease alleles.Significance of dietary folate intake, homocysteine levels and MTHFR 677 C>T genotyping in South African patients diagnosed with depression: test development for clinical application.Genetic risk factors for arterial ischemic stroke in children: a possible MTHFR and eNOS gene-gene interplay?Methylenetetrahydrofolate reductase tagging polymorphisms are associated with risk of non-small cell lung cancer in eastern Chinese Han population.Detecting association of rare and common variants by testing an optimally weighted combination of variants.Making metabolism accessible and meaningful: is the definition of a central metabolic dogma within reach?Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.Planning the human variome project: the Spain report.Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.Folate and Its Impact on Cancer Risk

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

http://www.wikidata.org/entity/Q36725681

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

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Proceedings of the National Academy of Sciences of the United States of America

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The prevalence of folate-remedial MTHFR enzyme variants in humans.

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David Ginzinger

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Dennis A Gilbert

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Janet Ziegle

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Jasper Rine

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Jennifer Gin

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Kathryn Hunkapiller Keho

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Nicholas J Marini

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P2860

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

Regulation of human methylenetetrahydrofolate reductase by phosphorylation

Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase

The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia

Polyglutamylation of folate coenzymes is necessary for methionine biosynthesis and maintenance of intact mitochondrial genome in Saccharomyces cerevisiae.

Designer deletion strains derived from Saccharomyces cerevisiae S288C: a useful set of strains and plasmids for PCR-mediated gene disruption and other applications

High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K(m)): relevance to genetic disease and polymorphisms

Nutrigenetics in cancer research--folate metabolism and colorectal cancer.

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105

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51399382

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18523009

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