Genetic basis of neural tube defects

AJ Copp, P Stanier, NDE Greene - Textbook of pediatric neurosurgery, 2020 - Springer
… ) Dietary folate, but not choline, modifies neural tube defect risk in Shmt1 knockout mice. Am
… Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice. Am J …

Neural tube defects

AJ Copp, BN Harding - Developmental Neuropathology, 2018 - Wiley Online Library
… , each element of the neural tube closure sequence has its own distinct genetic requirements
[50]. Similarly, a distinct set of genes is required for development of the secondary neural

Genetic epidemiology of neural tube defects

PJ Lupo, AJ Agopian, H Castillo… - Journal of pediatric …, 2017 - content.iospress.com
… The purpose of this review is to outline the evolution of genetic studies of NTDs, from studies
of familial … Strategies for addressing gaps in NTD genetic research are also explored. …

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 arise early in human embryogenesis when the neural tube, the precursor
to the brain and spinal cord, fails to properly close during neurulation. Failure to complete …

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

RH Finnell, CD Caiaffa, SE Kim, Y Lei, J Steele… - … in Genetics, 2021 - frontiersin.org
… agents interacting with inherited susceptibility genes are the major contributing factors.
Neural tube defects (NTDs) are among the most prevalent human birth defects and as such, …

Closing in on mechanisms of open neural tube defects

S Lee, JG Gleeson - Trends in neurosciences, 2020 - cell.com
… necessary to discover a given numbers of genes as recurrently mutated, assuming that
there are 100 ‘discoverable’ genes for haploinsufficient neural tube defects (NTDs) in humans. …

[HTML][HTML] Overview of neural tube defects: gene–environment interactions, preventative approaches and future perspectives

J Isaković, I Šimunić, D Jagečić, V Hribljan, D Mitrečić - Biomedicines, 2022 - mdpi.com
… with neural tube defects which identify the genes needed for embryonic neural tube closure
(… a mutation does not have to mean a certain development of NTDs because, in most cases, …

Overview on neural tube defects: From development to physical characteristics

L Avagliano, V Massa, TM George… - Birth defects …, 2019 - Wiley Online Library
… has been reported for neural tube defects, possibly because of a sex-related genetic or
epigenetic effect. Despite the decades long attempts to elucidate genetic factors causative of …

[HTML][HTML] Molecular genetics involved in neural tube defects: recent advances and future prospective for molecular medicine

PR Mishra, M Barik, AK Mahapatra - Neurology India, 2020 - journals.lww.com
… infants with neural tube defects (NTDs) associated with genes … the genetic variants of the
fourteen special reported genes, … associated abnormalities rate (AAR) within the developmental

[HTML][HTML] A quest for genetic causes underlying signaling pathways associated with neural tube defects

S Rai, L Leydier, S Sharma, J Katwala… - Frontiers in Pediatrics, 2023 - frontiersin.org
… of genetic studies on humans and animals demonstrated the role of aberrant genes in the
developmental risk of neural tube defects … occur during embryonic development. Other studies …