Ontology highlight
ABSTRACT:
SUBMITTER: Bosoi CM
PROVIDER: S-EPMC3217084 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Bosoi Ciprian M CM Capra Valeria V Allache Redouane R Trinh Vincent Quoc-Huy VQ De Marco Patrizia P Merello Elisa E Drapeau Pierre P Bassuk Alexander G AG Kibar Zoha Z
Human mutation 20110923 12
The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure, and has been implicated in the pathogenesis of neural tube defects (NTDs) in animal models and human cohorts. In this study, we analyzed the role of one core PCP gene PRICKLE1 in these malformations. We screened this gene in 810 unrelated NTD patients and identified seven rare missense heterozygous mutations that were absent in all controls analyzed and predicted ...[more]