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. …
… 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 …
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 …
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 …
– for example, genetic, nutritional, environmental – within the population, or that this variant …
Neural tube defects and folate pathway genes: family-based association tests of gene–gene 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 (…
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 …
… 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 …
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 …
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. …
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 …
… in folate metabolism affect neural tube closure. Data from genetic studies and studies of …