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 …

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 …

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 …

Gene–environment interactions underlying the etiology of neural tube defects

CD Caiaffa, CSR Fonteles, L Yunping… - Current Topics in …, 2023 - Elsevier
Neural tube defects (NTDs) consist of severe structural malformations of the brain and spinal
cord and are the second most common structural birth defect in humans, accounting for …

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
Neural tube defects (NTDs) refer to a cluster of neurodevelopmental conditions associated
with failure of neural tube closure during embryonic development. Worldwide prevalence of …

Human neural tube defects: genetic causes and prevention

P De Marco, E Merello, A Cama, Z Kibar, V Capra - Biofactors, 2011 - Wiley Online Library
Neural tube defects (NTDs) are severe congenital malformations affecting 1–2 in 1,000 live
births, whose etiology is multifactorial, involving environmental and genetic factors. NTDs …

The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects

AM Molloy, LC Brody, JL Mills… - … Research Part A …, 2009 - Wiley Online Library
In this paper, we trace the history of current research into the genetic and biochemical
mechanisms that underlie folate‐preventable neural tube defects (NTDs). The inspired …

Investigations into the etiology of neural tube defects

RM Cabrera, DS Hill, AJ Etheredge… - Birth Defects Research …, 2004 - Wiley Online Library
Neural tube defects (NTDs) are serious malformations affecting approximately 1 per 1000
births, yet the mechanisms by which they arise are unknown. There have been consistent …

Genetic risk factors for folate-responsive neural tube defects

AM Molloy, F Pangilinan, LC Brody - Annual Review of Nutrition, 2017 - annualreviews.org
Neural tube defects (NTDs) are the most severe congenital malformations of the central
nervous system. The etiology is complex, with both genetic and environmental factors …

The role of folate transport and metabolism in neural tube defect risk

RC Barber, EJ Lammer, GM Shaw, KA Greer… - Molecular genetics and …, 1999 - Elsevier
Neural tube defects (NTDs) are common congenital malformations in humans. While
etiologically heterogeneous, for the most part they are multifactorial in their pathogenesis …