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 …
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. …
… 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 …
… 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 …
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 …
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 …
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 …
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 …
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 …
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 …
although prevalence rates at birth of these defects have been declining in certain areas of …