Linked Life Data

16540516

Source:http://linkedlifedata.com/resource/pubmed/id/16540516

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2006-4-3
pubmed:databankReference
pubmed:abstractText
Boundaries between cellular compartments often serve as signaling interfaces during embryogenesis. The coronal suture is a major growth center of the skull vault and develops at a boundary between cells derived from neural crest and mesodermal origin, forming the frontal and parietal bones, respectively. Premature fusion of these bones, termed coronal synostosis, is a common human developmental anomaly. Known causes of coronal synostosis include haploinsufficiency of TWIST1 and a gain of function mutation in MSX2. In Twist1(+/-) mice with coronal synostosis, we found that the frontal-parietal boundary is defective. Specifically, neural crest cells invade the undifferentiated mesoderm of the Twist1(+/-) mutant coronal suture. This boundary defect is accompanied by an expansion in Msx2 expression and reduction in ephrin-A4 distribution. Reduced dosage of Msx2 in the Twist1 mutant background restores the expression of ephrin-A4, rescues the suture boundary and inhibits craniosynostosis. Underlining the importance of ephrin-A4, we identified heterozygous mutations in the human orthologue, EFNA4, in three of 81 patients with non-syndromic coronal synostosis. This provides genetic evidence that Twist1, Msx2 and Efna4 function together in boundary formation and the pathogenesis of coronal synostosis.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1319-28
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:16540516-Animals, pubmed-meshheading:16540516-Base Sequence, pubmed-meshheading:16540516-COS Cells, pubmed-meshheading:16540516-Cells, Cultured, pubmed-meshheading:16540516-Cercopithecus aethiops, pubmed-meshheading:16540516-Cranial Sutures, pubmed-meshheading:16540516-Craniosynostoses, pubmed-meshheading:16540516-DNA-Binding Proteins, pubmed-meshheading:16540516-Embryo, Mammalian, pubmed-meshheading:16540516-Ephrin-A2, pubmed-meshheading:16540516-Ephrin-A4, pubmed-meshheading:16540516-Ephrins, pubmed-meshheading:16540516-Gene Expression Regulation, Developmental, pubmed-meshheading:16540516-Heterozygote, pubmed-meshheading:16540516-Homeodomain Proteins, pubmed-meshheading:16540516-Humans, pubmed-meshheading:16540516-Immunohistochemistry, pubmed-meshheading:16540516-Mesoderm, pubmed-meshheading:16540516-Mice, pubmed-meshheading:16540516-Mice, Inbred C57BL, pubmed-meshheading:16540516-Mice, Transgenic, pubmed-meshheading:16540516-Molecular Sequence Data, pubmed-meshheading:16540516-Mutation, pubmed-meshheading:16540516-Neural Crest, pubmed-meshheading:16540516-Nuclear Proteins, pubmed-meshheading:16540516-Phenotype, pubmed-meshheading:16540516-Receptors, Eph Family, pubmed-meshheading:16540516-Signal Transduction, pubmed-meshheading:16540516-Tumor Cells, Cultured, pubmed-meshheading:16540516-Twist Transcription Factor
pubmed:year
2006
pubmed:articleTitle
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.
pubmed:affiliation
Department of Biochemistry and Molecular Biology, Norris Cancer Hospital, University of Southern Califoirnia Keck School of Medicine, 1441 Eastlake Avenue, Los Angeles, CA 90089-0176, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural