Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects

R Klootwijk, FA Hol, M Wu, J Willemen… - … of Medical Genetics, 2003 - jmg.bmj.com
… role of the TFAP2A gene in the aetiology of human neural tube defects. However, our results
… study shows that CSK and MLP are not major risk factors for neural tube defects in humans. …

[HTML][HTML] Detection of copy number variants reveals association of cilia genes with neural tube defects

X Chen, Y Shen, Y Gao, H Zhao, X Sheng, J Zou… - PLoS …, 2013 - journals.plos.org
… Neural tube defects (NTDs) are common and severe birth defects. They arise between the
third and fourth week of embryogenesis because of partial or complete failure of neural tube

Loss-of-function de novo mutations play an important role in severe human neural tube defects

P Lemay, MC Guyot, É Tremblay… - … of medical genetics, 2015 - jmg.bmj.com
… the presence of LoF variants in five genes, have reported … NTD genes, suggesting the
involvement of those variants in the … two independent protein truncating variants in SHROOM3 in …

Risk of congenital heart defects is influenced by genetic variation in folate metabolism

KE Christensen, YF Zada, CV Rohlicek… - Cardiology in the …, 2013 - cambridge.org
… investigations of this variant and neural tube defect risk.… variant may depend on other factors
– for example, genetic, nutritional, environmental – within the population, or that this variant

Neural tube defects and folate pathway genes: family-based association tests of genegene and gene–environment interactions

AL Boyles, AV Billups, KL Deak… - Environmental …, 2006 - ehp.niehs.nih.gov
… nucleotide polymorphisms (SNPs) and location in the gene (Figure 2). All but two genetic
variants were genotyped by commercially available TaqMan allelic discrimination assays (…

[HTML][HTML] Rare mutations in apoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

X Zhou, W Zeng, H Li, H Chen, G Wei, X Yang… - Cell death & …, 2018 - nature.com
… In addition, we also identified 2 candidate variants in three genes in 224 controls. There is a
genes including CASP9, APAF1, and CASP3 contribute to etiology of neural tube defects in …

Digenic variants of planar cell polarity genes in human neural tube defect patients

L Wang, Y Xiao, T Tian, L Jin, Y Lei, RH Finnell… - Molecular genetics and …, 2018 - Elsevier
… SCRIB variants combined with variants among other PCP genes … effect of these variants on
protein function or on neural tube … Our findings imply that genetic variation might interact in a …

Insights into metabolic mechanisms underlying folate‐responsive neural tube defects: a minireview

AE Beaudin, PJ Stover - Birth Defects Research Part A: Clinical …, 2009 - Wiley Online Library
… Coding variants within genes that impair folate transport and accumulation may not be …
deleterious genetic variation. Nonetheless, genetic variation within the folate receptor genes does …

Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring

J Liu, Y Zhang, L Jin, G Li, L Wang, Y Bao, Y Fu… - Metabolic brain …, 2015 - Springer
… ) G158A are associated with a risk of neural tube defects (NTDs) in offspring. This study
examined … Possible interactions between genetic variants of MTHFR and COMT were examined. …

Folate‐mediated one‐carbon metabolism and neural tube defects: Balancing genome synthesis and gene expression

AE Beaudin, PJ Stover - Birth Defects Research Part C: Embryo …, 2007 - Wiley Online Library
… exploring the relationship between folate nutriture, genetic variation, and NTDs, we are still
… in folate metabolism affect neural tube closure. Data from genetic studies and studies of …