Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?

Molecular genetics and metabolism - 1 Jun 2001

Heil S G, Van der Put N M, Waas E T, den Heijer M, Trijbels F J, Blom H J

Abstract excerpt

Neural tube defects (NTD) arise in the first weeks of pregnancy due to a combination of environmental and genetic factors. In mothers of children with NTD elevated homocysteine (Hcy) levels and decreased plasma folate levels were observed, which suggests a defect in the folate-dependent Hcy metabolism. Therefore, mutations in genes coding for enzymes of this metabolism could be involved in NTD. Serine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cytosol
Share to DNA, Complementary
Share to Folic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycine Hydroxymethyltransferase

Share to Mitochondria

Share to Neural Tube Defects

Share to Polymorphism, Single-Stranded Conformational

Share to Sequence Deletion

Source

Identifiers

PMID: 11386852
DOI: 10.1006/mgme.2001.3175

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?PMID 11386852Read ↗

Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice.Semantic proximity Read ↗

Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization.Semantic proximity Read ↗

Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome.Semantic proximity Read ↗

Properties of human and rabbit cytosolic serine hydroxymethyltransferase are changed by single nucleotide polymorphic mutations.Semantic proximity Read ↗

Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.Semantic proximity Read ↗

Altered folate and vitamin B12 metabolism in families with spina bifida offspringSemantic proximity Read ↗

A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.Semantic proximity Read ↗

Inhibiting MARSs reduces hyperhomocysteinemia‐associated neural tube and congenital heart defectsSemantic proximity Read ↗

Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease.Semantic proximity Read ↗

Polymorphisms of cytosolic serine hydroxymethyltransferase and risk of lung cancer: a case-control analysis.Semantic proximity Read ↗

Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia.Semantic proximity Read ↗

Thymidylate synthase gene polymorphisms and markers of DNA methylation capacity.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.