2011
DOI: 10.1002/humu.21589
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Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects

Abstract: 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 7 rare missense heterozygous mutations that were absent in all controls analyzed and predicted to be functionally d… Show more

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Cited by 77 publications
(78 citation statements)
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“…We and others have previously demonstrated an important role for PCP signaling in the pathogenesis of NTDs where novel and rare mutations in PCP genes including VANGL1, PK1, FZD6, FUZZY, SCRIBBLE1 and CELSR1 were associated with NTDs in a subset of patients (37)(38)(39)(40)(41)(42). All these genes are activators of the PCP pathway, and some mutations were hypothesized to be hypomorphic.…”
Section: Novel Rare Mutations In Lrp6 Are Associated With Human Ntdsmentioning
confidence: 99%
“…We and others have previously demonstrated an important role for PCP signaling in the pathogenesis of NTDs where novel and rare mutations in PCP genes including VANGL1, PK1, FZD6, FUZZY, SCRIBBLE1 and CELSR1 were associated with NTDs in a subset of patients (37)(38)(39)(40)(41)(42). All these genes are activators of the PCP pathway, and some mutations were hypothesized to be hypomorphic.…”
Section: Novel Rare Mutations In Lrp6 Are Associated With Human Ntdsmentioning
confidence: 99%
“…The atypical cadherin, Fmi resides on both distal and proximal edges, where it binds neighboring cells through heomophilic interactions (Usui et al, 1999;Shimada et al, 2001). Xenopus, zebrafish and the mouse, the same set of 'core PCP' proteins has been shown to regulate a plethora of early developmental events ranging from convergent extension movements during gastrulation, orientation of cochlear hair cell in the ear, neural tube closure, oriented cell division, lung branching, hair follicle alignment and polarized ciliary beating in the trachea and brain ventricles (Goodrich andStrutt, 2011, Gray et al, 2011;Zallen, 2007;Bosoi et al, 2011;De Marco et al, 2012;Kibar et al, 2009;Kibar et al, 2007;Rida and Chen, 2009;Wang and Nathans, 2007;Yates and Dean, 2007;Segalen and Bellaïche, 2009;Vladar et al, 2012) ( Fig.1.6.4.1). In all cases local modulation of cytoskeleton is crucial for the proper conduct of these processes.…”
Section: Mechanism Of Planar Cell Polarity (Pcp)mentioning
confidence: 99%
“…Genetic studies of human craniorachischisis suggest an association with mutations in CELSR1 and SCRIB (59). Recently, PRICKLE1 and PRICKLE2 mutations were implicated as predisposing factors or risk modifiers for human spina bifida (60,61). Two reviews summarize the compelling evidence for PCP gene involvement in NTDs (62,63).…”
Section: Introductionmentioning
confidence: 99%