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Article

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

European journal of human genetics : EJHG - 1 Jun 2006

Parle-McDermott Anne, Kirke Peadar N, Mills James L, Molloy Anne M, Cox Christopher, O'Leary Valerie B, Pangilinan Faith, Conley Mary, Cleary Laura, Brody Lawrence C, Scott John M

Abstract excerpt

The risk of neural tube defects (NTDs) is known to have a significant genetic component that could act through either the NTD patient and/or maternal genotype. The success of folic acid supplementation in NTD prevention has focused attention on polymorphisms within folate-related genes. We previously identified the 1958G>A (R653Q) polymorphism of the trifunctional enzyme MTHFD1...

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Identifiers

PMID: 16552426
DOI: 10.1038/sj.ejhg.5201603

Genes

MTHFD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.PMID 16552426Read ↗

A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.Semantic proximity Read ↗

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.Semantic proximity Read ↗

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.Semantic proximity Read ↗

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Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population.Semantic proximity Read ↗

Screening for new MTHFR polymorphisms and NTD risk.Semantic proximity Read ↗

A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.Semantic proximity Read ↗

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