| Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. | |
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MedLine Citation:
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PMID: 20842696 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Apert syndrome is a congenital disorder caused mainly by two neighboring mutations on fibroblast growth factor receptor 2 (FGFR2). Premature closure of the coronal suture is commonly considered the identifying and primary defect triggering or preceding the additional cranial malformations of Apert phenotype. Here we use two transgenic mouse models of Apert syndrome, Fgfr2(+/S252W) and Fgfr2(+/P253R), to explore variation in cranial phenotypes in newborn (P0) mice. Results show that the facial skeleton is the most affected region of the cranium. Coronal suture patency shows marked variation that is not strongly correlated with skull dysmorphology. The craniofacial effects of the FGFR2 mutations are similar, but Fgfr2(+/S252W) mutant mice display significantly more severe dysmorphology localized to the posterior palate. Our results demonstrate that coronal suture closure is neither the primary nor the sole locus of skull dysmorphology in these mouse models for Apert syndrome, but that the face is also primarily affected. |
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Authors:
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Neus Martínez-Abadías; Christopher Percival; Kristina Aldridge; Cheryl A Hill; Timothy Ryan; Satama Sirivunnabood; Yingli Wang; Ethylin Wang Jabs; Joan T Richtsmeier |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Developmental dynamics : an official publication of the American Association of Anatomists Volume: 239 ISSN: 1097-0177 ISO Abbreviation: Dev. Dyn. Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-10-27 Completed Date: 2011-02-03 Revised Date: 2011-11-01 |
Medline Journal Info:
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Nlm Unique ID: 9201927 Medline TA: Dev Dyn Country: United States |
Other Details:
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Languages: eng Pagination: 3058-71 Citation Subset: IM |
Copyright Information:
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© 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16803, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
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genetics,
metabolism* Animals Animals, Newborn Craniosynostoses / genetics, metabolism Disease Models, Animal Mice Mice, Transgenic Receptor, Fibroblast Growth Factor, Type 2 / metabolism* Skull / anatomy & histology, embryology |
| Grant Support | |
ID/Acronym/Agency:
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3R01DE18500-02S1/DE/NIDCR NIH HHS; R01 DE018500-02S1/DE/NIDCR NIH HHS; R01 DE018500-03/DE/NIDCR NIH HHS; R01DE018500/DE/NIDCR NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 2.7.1.112/Fgfr2 protein, mouse; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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