Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2009-6-29
pubmed:abstractText
Neural tube defects (NTDs) are severe congenital malformations caused by failure of the neural tube to close during neurulation. Their etiology is complex involving both environmental and genetic factors. We have recently reported three mutations in the planar cell polarity gene VANGL1 associated with NTDs. The aim of the present study was to define the role of VANGL1 genetic variants in the development of NTDs in a large cohort of various ethnic origins. We identified five novel missense variants in VANGL1, p.Ser83Leu, p.Phe153Ser, p.Arg181Gln, p.Leu202Phe and p.Ala404Ser, occurring in sporadic and familial cases of spinal dysraphisms. All five variants affect evolutionary conserved residues and are absent from all controls analyzed. This study provides further evidence supporting the role of VANGL1 as a risk factor in the development of spinal NTDs.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-10833330, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-11431695, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-11709546, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-11940082, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-15053985, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-15456783, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-15731331, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-15939212, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-16651370, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-1677062, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-16924261, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-17010690, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-17177317, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-17470131, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-17503334, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-18296642, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-18710302, http://linkedlifedata.com/resource/pubmed/commentcorrection/19319979-8492851
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
(c) 2009 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
E706-15
pubmed:dateRevised
2010-9-23
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Novel mutations in VANGL1 in neural tube defects.
pubmed:affiliation
CHU Sainte Justine Research Center, Department of Obstetrics and Gynecology, University of Montreal, Montreal, QC, Canada. zoha.kibar@ recherche-ste-justine.qc.ca
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Multicenter Study