Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila

AC Humphries, S Narang, M Mlodzik - elife, 2020 - elifesciences.org
Planar cell polarity (PCP) and neural tube defects (NTDs) are linked, with a subset of NTD
patients found to harbor mutations in PCP genes, but there is limited data on whether these …

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

JH Seo, Y Zilber, S Babayeva, JJ Liu… - Human molecular …, 2011 - academic.oup.com
Neural tube defects (NTDs) are a heterogeneous group of common severe congenital
anomalies which affect 1–2 infants per 1000 births. Most genetic and/or environmental …

[HTML][HTML] Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

F Pangilinan, AM Molloy, JL Mills, JF Troendle… - BMC medical …, 2012 - Springer
Abstract Background Neural tube defects (NTDs) are common birth defects (~ 1 in 1000
pregnancies in the US and Europe) that have complex origins, including environmental and …

Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects

MM Lakkis, JA Golden, KS O'Shea, JA Epstein - Developmental biology, 1999 - Elsevier
Neural tube defects are common and serious human congenital anomalies. These
malformations have a multifactorial etiology and can be reproduced in mouse models by …

Neural tube closure and neural tube defects: studies in animal models reveal known knowns and known unknowns

JB Wallingford - American Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
The vertebrate central nervous system is a hollow structure that develops first as a flat sheet
of cells and subsequently rolls into a tube during embryogenesis. Failure of this rolling …

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans

M Wang, P De Marco, E Merello… - … Research Part A …, 2015 - Wiley Online Library
Background Neural tube defects (NTDs) are among the most common congenital defects
affecting approximately 1 in 1000 live births in North America. Their etiology is complex …

Mouse models of neural tube defects: investigating preventive mechanisms

NDE Greene, AJ Copp - … Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
Neural tube defects (NTD), including anencephaly and spina bifida, are a group of severe
congenital abnormalities in which the future brain and/or spinal cord fail to close. In mice …

[HTML][HTML] Organoids as a new model system to study neural tube defects

Y Wu, S Peng, RH Finnell, Y Zheng - FASEB journal: official …, 2021 - ncbi.nlm.nih.gov
The neural tube is the first critically important structure that develops in the embryo. It serves
as the primordium of the central nervous system; therefore, the proper formation of the …

Mechanisms of neural tube closure and defects

TW Sadler - Mental retardation and developmental disabilities …, 1998 - Wiley Online Library
Neural tube closure (neurulation) is a complex process involving many cell phenomena.
Both extrinsic and intrinsic forces are essential to elevate the neural plate into the neural …

Non‐multifactorial neural tube defects

SA Lynch - American Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
Although most neural tube defects (anencephaly, spina bifida) occur as isolated
malformations, a substantial proportion are attributable to chromosome anomalies, known …