Digenic variants of planar cell polarity genes in human neural tube defect patients

L Wang, Y Xiao, T Tian, L Jin, Y Lei, RH Finnell… - Molecular genetics and …, 2018 - Elsevier
Neural tube defects (NTDs) are considered to be a complex genetic disorder, although the
identity of the genetic factors remains largely unknown. Mouse model studies suggest a …

Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects

T Tian, Y Lei, Y Chen, M Karki, L Jin, RH Finnell… - Human genetics, 2020 - Springer
Extensive studies that have sought causative mutation (s) for neural tube defects (NTDs)
have yielded limited positive findings to date. One possible reason for this is that many …

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

JN Murdoch, C Damrau, A Paudyal… - Disease models & …, 2014 - journals.biologists.com
Neural tube defects (NTDs) are among the commonest and most severe forms of
developmental defect, characterized by disruption of the early embryonic events of central …

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 …

[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 …

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

R Allache, P De Marco, E Merello… - … Research Part A …, 2012 - Wiley Online Library
BACKGROUND Neural tube defects (NTDs), including anencephaly and spina bifida, have
a complex etiology. Defects in the planar cell polarity (PCP) signaling pathway have been …

[HTML][HTML] 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
Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most
severe and common malformations of the central nervous system affecting 0.7–3 per 1000 …

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

M Beaumont, L Akloul, W Carré, C Quélin, H Journel… - Human genetics, 2019 - Springer
Neural tube defect disorders are developmental diseases that originate from an incomplete
closure of the neural tube during embryogenesis. Despite high prevalence—1 out of 3000 …

A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects

DM Juriloff, MJ Harris - Birth Defects Research Part A: Clinical …, 2012 - Wiley Online Library
A variety of human birth defects originate in failure of closure of the embryonic neural tube.
The genetic cause of the most common nonsyndromic defects, spina bifida (SB) or …

Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations

E Merello, S Mascelli, A Raso, G Piatelli… - … Research Part A …, 2015 - Wiley Online Library
Background Neural Tube Defects (NTD) are a common class of birth defects that occur in
approximately 1 in 1000 live births. Both genetic and nongenetic factors are involved in the …