| Brain phenotypes in two FGFR2 mouse models for Apert syndrome. | |
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MedLine Citation:
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PMID: 20077479 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Apert syndrome (AS) is one of at least nine disorders considered members of the fibroblast growth factor receptor (FGFR) -1, -2, and -3-related craniosynostosis syndromes. Nearly 100% of individuals diagnosed with AS carry one of two neighboring mutations on Fgfr2. The cranial phenotype associated with these two mutations includes coronal suture synostosis, either unilateral (unicoronal synostosis) or bilateral (bicoronal synostosis). Brain dysmorphology associated with AS is thought to be secondary to cranial vault or base alterations, but the variation in brain phenotypes within Apert syndrome is unexplained. Here, we present novel three-dimensional data on brain phenotypes of inbred mice at postnatal day 0 each carrying one of the two Fgfr2 mutations associated with AS. Our data suggest that the brain is primarily affected, rather than secondarily responding to skull dysmorphogenesis. Our hypothesis is that the skull and brain are both primarily affected in craniosynostosis and that shared phenogenetic developmental processes affect both tissues in craniosynostosis of Apert syndrome. |
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Authors:
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Kristina Aldridge; Cheryl A Hill; Jordan R Austin; Christopher Percival; Neus Martinez-Abadias; Thomas Neuberger; 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 Mar |
Date Detail:
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Created Date: 2010-02-26 Completed Date: 2010-12-06 Revised Date: 2011-09-26 |
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: 987-97 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Pathology and Anatomical Sciences, University of Missouri-School of Medicine, Columbia, Missouri 65212, USA. aldridgek@health.missouri.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
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genetics* Animals Brain / embryology Craniosynostoses / genetics Disease Models, Animal Gene Expression Regulation, Developmental Magnetic Resonance Spectroscopy Mice Mice, Inbred C57BL Mice, Transgenic Mutation Phenotype Receptor, Fibroblast Growth Factor, Type 2 / metabolism* Time Factors Tomography, X-Ray Computed / methods |
| Grant Support | |
ID/Acronym/Agency:
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R01 DE018500/DE/NIDCR NIH HHS; R01 DE018500-02/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 |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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