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 …

Genetic basis of neural tube defects

AJ Copp, P Stanier, NDE Greene - Textbook of pediatric neurosurgery, 2020 - Springer
… MJ (2012) A consideration of the evidence that genetic defects in planar cell polarity contribute
to the etiology of human neural tube defects. Birth Defects Res A Clin Mol Teratol 94:824–…

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
… Thus, the complex nature of gene-environment interactions requires the development of
more sophisticated approaches utilizing the tools of contemporary molecular biology to dissect …

Gene–environment interactions underlying the etiology of neural tube defects

CD Caiaffa, CSR Fonteles, L Yunping… - … in Developmental Biology, 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 …

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
… for study in the human NTDs etiology [19]. There are 240 mouse mutants and strains with
neural tube defects which identify the genes needed for embryonic neural tube closure (NTC) […

Pathogenesis of neural tube defects: The regulation and disruption of cellular processes underlying neural tube closure

DM Engelhardt, CA Martyr… - WIREs mechanisms of …, 2022 - Wiley Online Library
… of genes, which presents many points of failure leading to NTDs. When attempting to
understand the causes of neural tube defects, one can start by surveying the known genetic

Neural tube defects

C Pyrgaki, HM Brown, E Jaffe, SA Pezoa… - Neurodevelopmental …, 2020 - Elsevier
neural tube. NTDs are classified based on the extent and position of the opening of the
neural tube, … The causes of NTDs are genetic, involving hundreds of genes, that intersect with …

Neural tube defects: Different types and brief review of neurulation process and its clinical implication

KS Ravi, SB Hassan, R Pasi, S Mittra… - Journal of Family …, 2021 - journals.lww.com
… Although the incidence of spina bifida is thought to be multifactorial, advances in genetic
and molecular biology studies have pointed to polymorphisms in C677T of the MTHFR gene

Mouse models of neural tube defects

IE Zohn - Animal Models of Human Birth Defects, 2020 - Springer
… on the genetic background of … genetic, molecular, and cellular basis of neural tube closure,
as well as to our understanding of the causes and prevention of this devastating birth defect

Abnormal methylation caused by folic acid deficiency in neural tube defects

R Cao, J Xie, L Zhang - Open Life Sciences, 2022 - degruyter.com
… However, the mechanisms of DNA methylation at cellular, molecular, or genetic levels
during neural tube development remain unclear. Large-scale high-throughput techniques and …