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 …

Closing in on mechanisms of open neural tube defects

S Lee, JG Gleeson - Trends in neurosciences, 2020 - cell.com
… Here, we discuss current understanding of human NTD genetics, recent advances regarding
… phenotypes for a greater appreciation of the developmental and genetic causes of NTDs. …

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
… the most rostral anterior portion of the developing neural tube, while the spinal cord originates
… Failure during neural tube closure can occur in different regions during the developmental

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 …

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics  …

…, ACMG Biochemical Genetics Subcommittee of the … - Genetics in …, 2020 - nature.com
… for open neural tube defects (ONTD). … of neural tube defects, 5 advances in first and second
trimester prenatal ultrasound for the identification and characterization of neural tube defects

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
… A large number of genetic studies in human NTDs have … picture of the complete genetic
architecture of these defects. The … to dissect the complex genetics of NTDs. The ultimate goal is to …

Neural tube defects

C Pyrgaki, HM Brown, E Jaffe, SA Pezoa… - Neurodevelopmental …, 2020 - Elsevier
… Animal models can help uncover the intersections between genetic and environmental risk
factors to … NTDs are a multifactorial disorder with complex etiology involving both genetic and …

Prenatal detection of neural tube defects

A Milunsky, TL Sadick - Genetic Diseases And Development …, 2019 - taylorfrancis.com
… the Neural Tube Defects (NTD's) through prenatal detection. The Neural Tube Defects are
a … malformations in the sense that one of these defects is present in every 500 births in the …

Variants identified in PTK7 associated with neural tube defects

Y Lei, SE Kim, Z Chen, X Cao, H Zhu… - Molecular genetics & …, 2019 - Wiley Online Library
… Other PCP genes, and PCP effector and regulator genes also play a potential role in
convergent extension movements and neural tube closure (NTC), and therefore need to be further …

Epidemiology of neural tube defects

J Little, JM Elwood - Reproductive and perinatal epidemiology, 2019 - taylorfrancis.com
Neural tube defects (NTDs) remain among the most common types of congenital anomalies,
although prevalence rates at birth of these defects have been declining in certain areas of …