Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects

MJ Harris, DM Juriloff - Birth Defects Research Part A: Clinical …, 2007 - Wiley Online Library
BACKGROUND: The number of mouse mutants and strains with neural tube closure defects
(NTDs) now exceeds 190, including 155 involving known genes, 33 with unidentified genes …

Human neural tube defects: genetic causes and prevention

P De Marco, E Merello, A Cama, Z Kibar, V Capra - Biofactors, 2011 - Wiley Online Library
Neural tube defects (NTDs) are severe congenital malformations affecting 1–2 in 1,000 live
births, whose etiology is multifactorial, involving environmental and genetic factors. NTDs …

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population

P De Marco, E Merello, G Piatelli… - … Research Part A …, 2014 - Wiley Online Library
Neural Tube Defects (NTDs) are congenital malformations that involve failure of the neural
tube closure during the early phases of development at any level of the rostro‐caudal axis …

Mouse models for neural tube closure defects

DM Juriloff, MJ Harris - Human molecular genetics, 2000 - academic.oup.com
Neural tube closure defects (NTDs), in particular anencephaly and spina bifida, are common
human birth defects (1 in 1000), their genetics is complex and their risk is reduced by …

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 …

Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse

IE Zohn, KV Anderson… - Birth Defects Research …, 2005 - Wiley Online Library
BACKGROUND Neural tube closure is a critical embryological process that requires the
coordination of many molecular and cellular events. Only recently has the molecular basis of …

Genetic epidemiology of neural tube defects

PJ Lupo, AJ Agopian, H Castillo… - Journal of pediatric …, 2017 - content.iospress.com
It has been estimated that 60–70% of neural tube defects (NTDs) have a genetic component,
but few causative genes have been identified. The lack of information on genes associated …

[HTML][HTML] Genetic analysis of Wnt/PCP genes in neural tube defects

Z Chen, Y Lei, X Cao, Y Zheng, F Wang, Y Bao… - BMC Medical …, 2018 - Springer
Background Mouse homozygous mutants in Wnt/planar cell polarity (PCP) pathway genes
have been shown to cause neural tube defects (NTDs) through the disruption of normal …

[HTML][HTML] Genome-Wide Association Mapping in Dogs Enables Identification of the Homeobox Gene, NKX2-8, as a Genetic Component of Neural Tube Defects in …

N Safra, AG Bassuk, PJ Ferguson, M Aguilar… - PLoS …, 2013 - journals.plos.org
Neural tube defects (NTDs) is a general term for central nervous system malformations
secondary to a failure of closure or development of the neural tube. The resulting …

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 …