[HTML][HTML] Gene environment interactions in the etiology of neural tube defects

RH Finnell, CD Caiaffa, SE Kim, Y Lei, J Steele… - Frontiers in …, 2021 - frontiersin.org
Human structural congenital malformations are the leading cause of infant mortality in the
United States. Estimates from the United States Center for Disease Control and Prevention …

[HTML][HTML] Update on the role of the non-canonical Wnt/planar cell polarity pathway in neural tube defects

M Wang, P de Marco, V Capra, Z Kibar - Cells, 2019 - mdpi.com
Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most
severe and common malformations of the central nervous system affecting 0.7–3 per 1000 …

[HTML][HTML] Spina bifida: a review of the genetics, pathophysiology and emerging cellular therapies

AES Hassan, YL Du, SY Lee, A Wang… - Journal of developmental …, 2022 - mdpi.com
Spina bifida is the most common congenital defect of the central nervous system which can
portend lifelong disability to those afflicted. While the complete underpinnings of this disease …

Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back

P Wolujewicz, JW Steele, JA Kaltschmidt, RH Finnell… - Genesis, 2021 - Wiley Online Library
Neural tube defects (NTDs) are a classic example of preventable birth defects for which
there is a proven‐effective intervention, folic acid (FA); however, further methods of …

[HTML][HTML] Identification of putative causal loci in whole-genome sequencing data via knockoff statistics

Z He, L Liu, C Wang, Y Le Guen, J Lee… - Nature …, 2021 - nature.com
The analysis of whole-genome sequencing studies is challenging due to the large number
of rare variants in noncoding regions and the lack of natural units for testing. We propose a …

One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects?

JW Steele, SE Kim, RH Finnell - Biochimie, 2020 - Elsevier
Neural tube defects (NTDs) are a broad class of congenital birth defects that result from the
failure of neural tube closure during neurulation. Folic acid supplementation has been …

[HTML][HTML] Organoids as a new model system to study neural tube defects

Y Wu, S Peng, RH Finnell, Y Zheng - FASEB journal: official …, 2021 - ncbi.nlm.nih.gov
The neural tube is the first critically important structure that develops in the embryo. It serves
as the primordium of the central nervous system; therefore, the proper formation of the …

Closing in on mechanisms of open neural tube defects

S Lee, JG Gleeson - Trends in neurosciences, 2020 - cell.com
Neural tube defects (NTDs) represent a failure of the neural plate to complete the
developmental transition to a neural tube. NTDs are the most common birth anomaly of the …

[HTML][HTML] Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing

Y Yang, S Zhao, G Sun, F Chen, T Zhang… - NPJ Genomic …, 2022 - nature.com
Structural anomalies of the central nervous system (CNS) are one of the most common fetal
anomalies found during prenatal imaging. However, the genomic architecture of prenatal …

Micronutrient imbalance and common phenotypes in neural tube defects

AD Kakebeen, L Niswander - genesis, 2021 - Wiley Online Library
Neural tube defects (NTDs) are among the most common birth defects, with a prevalence of
close to 19 per 10,000 births worldwide. The etiology of NTDs is complex involving the …