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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2010-2-10
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pubmed:abstractText |
Cleft palate is a common birth defect in humans and is a common phenotype associated with syndromic mutations in fibroblast growth factor receptor 2 (Fgfr2). Cleft palate occurred in nearly all mice homozygous for the Crouzon syndrome mutation C342Y in the mesenchymal splice form of Fgfr2. Mutant embryos showed delayed palate elevation, stage-specific biphasic changes in palate mesenchymal proliferation, and reduced levels of mesenchymal glycosaminoglycans (GAGs). Reduced levels of feedback regulators of FGF signaling suggest that this gain-of-function mutation in FGFR2 ultimately resembles loss of FGF function in palate mesenchyme. Knowledge of how mesenchymal FGF signaling regulates palatal shelf development may ultimately lead to pharmacological approaches to reduce cleft palate incidence in genetically predisposed humans.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20133659-10490462,
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1091-6490
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
9
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pubmed:volume |
107
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2515-20
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pubmed:dateRevised |
2010-9-27
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pubmed:meshHeading |
pubmed-meshheading:20133659-Animals,
pubmed-meshheading:20133659-Mice,
pubmed-meshheading:20133659-Palate,
pubmed-meshheading:20133659-Cleft Palate,
pubmed-meshheading:20133659-Embryo, Mammalian,
pubmed-meshheading:20133659-Mutation,
pubmed-meshheading:20133659-Female,
pubmed-meshheading:20133659-Male,
pubmed-meshheading:20133659-Tissue Culture Techniques,
pubmed-meshheading:20133659-Glycosaminoglycans,
pubmed-meshheading:20133659-Time Factors,
pubmed-meshheading:20133659-Genetic Predisposition to Disease,
pubmed-meshheading:20133659-Cell Proliferation,
pubmed-meshheading:20133659-Gene Expression Regulation, Developmental,
pubmed-meshheading:20133659-Signal Transduction,
pubmed-meshheading:20133659-In Situ Hybridization,
pubmed-meshheading:20133659-Apoptosis,
pubmed-meshheading:20133659-Mice, Knockout,
pubmed-meshheading:20133659-Receptor, Fibroblast Growth Factor, Type 2,
pubmed-meshheading:20133659-Reverse Transcriptase Polymerase Chain Reaction
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