MARK2/Par1b Insufficiency Attenuates DVL Gene Transcription via Histone Deacetylation in Lumbosacral Spina Bifida

S Chen, Q Zhang, B Bai, S Ouyang, Y Bao, H Li… - Molecular …, 2017 - Springer
Dishevelled (DVL/Dvl) genes play roles in canonical and noncanonical Wnt signaling, both
of which are essential in neural tube closing and are involved in balancing neural progenitor …

Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects

E Merello, Z Kibar, R Allache, G Piatelli… - … Research Part A …, 2013 - Wiley Online Library
BACKGROUND Neural tube defects (NTDs) are severe malformations that arise when the
neural tube fails to close during embryogenesis. The planar cell polarity pathway is involved …

DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway

L Liu, W Liu, Y Shi, L Li, Y Gao, Y Lei, R Finnell… - Journal of genetics and …, 2020 - Elsevier
Wnt signaling pathways, including the canonical Wnt/β-catenin pathway, planar cell polarity
pathway, and Wnt/Ca 2+ signaling pathway, play important roles in neural development …

Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects

P De Marco, E Merello, A Consales, G Piatelli… - Journal of Molecular …, 2013 - Springer
Neural tube defects are severe malformations affecting 1/1,000 live births. The planar cell
polarity pathway controls the neural tube closure and has been implicated in the …

Dishevelled paralogs in vertebrate development: redundant or distinct?

M Gentzel, A Schambony - Frontiers in cell and developmental …, 2017 - frontiersin.org
Dishevelled (DVL) proteins are highly conserved in the animal kingdom and are important
key players in β-Catenin-dependent and-independent Wnt signaling pathways. Vertebrate …

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

H Luo, L Lao, KS Au, H Northrup, X He, D Forget… - Genome Biology, 2024 - Springer
Abstract Background Neural tube defects (NTDs) are caused by genetic and environmental
factors. ARMC5 is part of a novel ubiquitin ligase specific for POLR2A, the largest subunit of …

Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects

R Allache, M Wang, P De Marco… - … Research Part A …, 2015 - Wiley Online Library
Background Planar cell polarity (PCP) is a major branch of Wnt signaling that controls the
process of convergent extension in gastrulation and neurulation. PCP defects were …

LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure

JD Gray, S Kholmanskikh, BS Castaldo… - Human molecular …, 2013 - academic.oup.com
Low-density lipoprotein receptor related protein 6 (Lrp6) mutational effects on neurulation
were examined using gain (Crooked tail, Lrp6Cd) and loss (Lrp6−) of function mouse lines …

Contribution of VANGL2 mutations to isolated neural tube defects

Z Kibar, S Salem, CM Bosoi, E Pauwels… - Clinical …, 2011 - Wiley Online Library
Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros
P. Contribution of VANGL2 mutations to isolated neural tube defects. Vangl2 was identified …

Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects

Z Shi, X Yang, BB Li, S Chen, L Yang… - Birth defects …, 2018 - Wiley Online Library
Background Neural tube defects (NTDs), the second most frequent cause of human
congenital abnormalities, are debilitating birth defects due to failure of neural tube closure. It …