rdf:type |
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lifeskim:mentions |
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pubmed:issue |
36
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pubmed:dateCreated |
2005-9-9
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pubmed:abstractText |
A cranial neural tube defect in Crooked tail (Cd) mice is prevented with prenatal dietary folic acid Cd positional cloning reveals a missense mutation of a highly conserved amino acid in the low density lipoprotein receptor-related protein 6 (Lrp6), a coreceptor required for Wnt canonical signaling. Molecular modeling predicts that Lrp6(Cd) alters a hinge region of the second YWTD beta-propeller domain. Mutant LRP6 binds to Wnt and Dickkopf1 (Dkk1) but not Mesd1, and Dkk1 cannot antagonize Wnt in Cd/Cd cells, resulting in hyperactivity. NIH 3T3 cells transfected with a mutant Lrp6 plasmid resist Dkk1 antagonism much like Cd/+ cells, confirming the significance of the mutation. The Lrp6 mutation in Cd mice provides evidence for a functional connection between Wnt signaling and folate rescue of neural tube defects.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/16126904-10545599,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16126904-10630639,
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DKK1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Dkk1 protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Folic Acid,
http://linkedlifedata.com/resource/pubmed/chemical/Intercellular Signaling Peptides...,
http://linkedlifedata.com/resource/pubmed/chemical/LRP6 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Low Density Lipoprotein...,
http://linkedlifedata.com/resource/pubmed/chemical/Lrp6 protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, LDL,
http://linkedlifedata.com/resource/pubmed/chemical/Wnt Proteins
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0027-8424
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
6
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pubmed:volume |
102
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
12843-8
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:16126904-Amino Acid Sequence,
pubmed-meshheading:16126904-Animals,
pubmed-meshheading:16126904-Embryo, Mammalian,
pubmed-meshheading:16126904-Folic Acid,
pubmed-meshheading:16126904-Gene Expression Regulation, Developmental,
pubmed-meshheading:16126904-Humans,
pubmed-meshheading:16126904-Intercellular Signaling Peptides and Proteins,
pubmed-meshheading:16126904-Low Density Lipoprotein Receptor-Related Protein-6,
pubmed-meshheading:16126904-Mice,
pubmed-meshheading:16126904-Mice, Inbred DBA,
pubmed-meshheading:16126904-Models, Animal,
pubmed-meshheading:16126904-Models, Molecular,
pubmed-meshheading:16126904-Molecular Sequence Data,
pubmed-meshheading:16126904-Mutation,
pubmed-meshheading:16126904-Neural Tube Defects,
pubmed-meshheading:16126904-Protein Structure, Tertiary,
pubmed-meshheading:16126904-Proteins,
pubmed-meshheading:16126904-Receptors, LDL,
pubmed-meshheading:16126904-Sequence Alignment,
pubmed-meshheading:16126904-Tail,
pubmed-meshheading:16126904-Wnt Proteins
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pubmed:year |
2005
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pubmed:articleTitle |
Crooked tail (Cd) model of human folate-responsive neural tube defects is mutated in Wnt coreceptor lipoprotein receptor-related protein 6.
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pubmed:affiliation |
Department of Neurology, Weill Medical College of Cornell University, New York, NY 10021, USA.
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