Genetic, epigenetic, and environmental contributions to neural tube closure

JJ Wilde, JR Petersen, L Niswander - Annual review of genetics, 2014 - annualreviews.org
The formation of the embryonic brain and spinal cord begins as the neural plate bends to
form the neural folds, which meet and adhere to close the neural tube. The neural ectoderm …

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 …

Genetic architecture of reciprocal CNVs

C Golzio, N Katsanis - Current opinion in genetics & development, 2013 - Elsevier
Copy number variants (CNVs) represent a frequent type of lesion in human genetic
disorders that typically affects numerous genes simultaneously. This has raised the …

MTHFD1 is critical for the negative regulation of retinoic acid receptor signalling in anencephaly

X Xie, C Li, J Yu, S Chang, X Cheng, F Wang, Y Bao… - Brain, 2023 - academic.oup.com
Neural tube defects are the most severe congenital malformations that result from failure of
neural tube closure during early embryonic development, and the underlying molecular …

Aberrant Gcm1 expression mediates Wnt/β-catenin pathway activation in folate deficiency involved in neural tube defects

J Li, Q Xie, J Gao, F Wang, Y Bao, L Wu, L Yang… - Cell Death & …, 2021 - nature.com
Wnt signaling plays a major role in early neural development. An aberrant activation in
Wnt/β-catenin pathway causes defective anteroposterior patterning, which results in neural …

Rare Deleterious PARD3 Variants in the aPKC‐Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight …

X Chen, Y An, Y Gao, L Guo, L Rui, H Xie… - Human …, 2017 - Wiley Online Library
Increasing evidence that mutation of planar cell polarity (PCP) genes contributes to human
cranial neural tube defect (NTD) susceptibility prompted us to hypothesize that rare variants …

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

P Wolujewicz, V Aguiar-Pulido, A AbdelAleem… - Genetics in …, 2021 - nature.com
Purpose Next-generation sequencing has implicated some risk variants for human spina
bifida (SB), but the genome-wide contribution of structural variation to this complex genetic …

F-box protein FBXO30 mediates retinoic acid receptor γ ubiquitination and regulates BMP signaling in neural tube defects

X Cheng, P Pei, J Yu, Q Zhang, D Li, X Xie, J Wu… - Cell death & …, 2019 - nature.com
Retinoic acid (RA), an active derivative of vitamin A, is critical for the neural system
development. During the neural development, the RA/RA receptor (RAR) pathway …

The search for genetic determinants of human neural tube defects

P Wolujewicz, ME Ross - Current opinion in pediatrics, 2019 - journals.lww.com
The search for genetic determinants of human neural tube def... : Current Opinion in
Pediatrics The search for genetic determinants of human neural tube defects : Current …

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration

KS Au, L Hebert, P Hillman, C Baker, MR Brown… - Scientific reports, 2021 - nature.com
Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each
surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and …