The prevalence of folate-remedial MTHFR enzyme variants in humans (Q36725681)

15 August 2017

The prevalence of folate-remedial MTHFR enzyme variants in humans (English)

1 reference

15 August 2017

Nicholas J Marini

1

1 reference

15 August 2017

Jennifer Gin

2

1 reference

15 August 2017

Janet Ziegle

3

1 reference

15 August 2017

Kathryn Hunkapiller Keho

4

1 reference

15 August 2017

David Ginzinger

5

1 reference

15 August 2017

Dennis A Gilbert

6

1 reference

15 August 2017

Jasper Rine

7

1 reference

15 August 2017

language of work or name

English

0 references

publication date

3 June 2008

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15 August 2017

6

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

inferred from page(s)

published in

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15 August 2017

105

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15 August 2017

23

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15 August 2017

8055-8060

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Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Effect of folic acid supplementation on risk of cardiovascular diseases: a meta-analysis of randomized controlled trials

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

B6-responsive disorders: a model of vitamin dependency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Genetic variation in genes of folate metabolism and neural-tube defect risk

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

5,10-Methylenetetrahydrofolate reductase polymorphisms and pharmacogenetics: a new role of single nucleotide polymorphisms in the folate metabolic pathway in human health and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Nutrigenetics in cancer research--folate metabolism and colorectal cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Meta-analysis of MTHFR 677C->T polymorphism and coronary heart disease: does totality of evidence support causal role for homocysteine and preventive potential of folate?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Regulation of human methylenetetrahydrofolate reductase by phosphorylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Genetic association studies of complex traits: design and analysis issues

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Pattern of sequence variation across 213 environmental response genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Role of cofactors in protein folding

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Yeast vectors for integration at the HO locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430358

Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics

30 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0802813105

Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0802813105

Isolation, characterization, and functional expression of cDNAs encoding NADH-dependent methylenetetrahydrofolate reductase from higher plants.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0802813105

Photoaffinity labeling of methylenetetrahydrofolate reductase with 8-azido-S-adenosylmethionine

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18523009

12 December 2020

inferred from PubMed ID database lookup

Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18523009

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.0802813105

1 reference

release_qiqk2hxvxrac3jrrjmay4kxd4e

15 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qiqk2hxvxrac3jrrjmay4kxd4e

24 November 2022

mapped directly with Wikidata item

1 reference

15 August 2017

1 reference