(Q46393958)

21 December 2017

title

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects (English)

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21 December 2017

6

Andrea Richter

1 reference

21 December 2017

8

Rima Rozen

1 reference

21 December 2017

Jacques L. Michaud

4

object named as

Jacques Michaud

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21 December 2017

author name string

Karen E Christensen

1

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21 December 2017

Charles V Rohlicek

2

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21 December 2017

Gregor U Andelfinger

3

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21 December 2017

Jean-Luc Bigras

5

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21 December 2017

Robert E Mackenzie

7

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21 December 2017

publication date

1 February 2009

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21 December 2017

published in

Human Mutation

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21 December 2017

volume

30

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21 December 2017

issue

2

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21 December 2017

page(s)

212-220

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21 December 2017

MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

Tetralogy of Fallot with congenital aortic valvar stenosis: the tetralogy-truncus interrelationship

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Vitamin supplements and the risk for congenital anomalies other than neural tube defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Magnesium and phosphate ions enable NAD binding to methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Mitochondrial one-carbon metabolism is adapted to the specific needs of yeast, plants and mammals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Mitochondrial NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is essential for embryonic development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Formiminotransferase-cyclodeaminase from procine liver. Purification and physical properties of the enzyme complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

The incidence of congenital heart disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Expression of active domains of a human folate-dependent trifunctional enzyme in Escherichia coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Genetic variation of folate-mediated one-carbon transfer pathway predicts susceptibility to choline deficiency in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Construction of plasmids that express E. coli beta-galactosidase in mammalian cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Thymidylate synthase promoter tandem repeat and MTHFD1 R653Q polymorphisms modulate the risk for migraine conferred by the MTHFR T677 allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Mammalian fibroblasts lacking mitochondrial NAD+-dependent methylenetetrahydrofolate dehydrogenase-cyclohydrolase are glycine auxotrophs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Methenyltetrahydrofolate cyclohydrolase is rate limiting for the enzymatic conversion of 10-formyltetrahydrofolate to 5,10-methylenetetrahydrofolate in bifunctional dehydrogenase-cyclohydrolase enzymes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

The crystal structure of N(10)-formyltetrahydrofolate synthetase from Moorella thermoacetica

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

SWISS-MODEL: An automated protein homology-modeling server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Association between 5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Conotruncal Heart Defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Residues involved in the mechanism of the bifunctional methylenetetrahydrofolate dehydrogenase-cyclohydrolase: the roles of glutamine 100 and aspartate 125.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

MTRR 66A>G polymorphism in relation to congenital heart defects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Polymorphisms of MTHFD, plasma homocysteine levels, and risk of gastric cancer in a high-risk Chinese population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Kinetic relationships between the various activities of the formyl-methenyl-methylenetetrahydrofolate synthetase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Expression of human NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase in Escherichia coli: purification and partial characterization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20830

7 January 2021

Identifiers

DOI

10.1002/HUMU.20830

1 reference

21 December 2017

PubMed ID

18767138

1 reference

21 December 2017