Brain phenotypes in two FGFR2 mouse models for Apert syndrome
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چکیده
منابع مشابه
Brain phenotypes in two FGFR2 mouse models for Apert syndrome.
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 synosto...
متن کاملMagnetic resonance microscopy and micro computed tomography of brain phenotypes of two FGFR2 mouse models for Apert syndrome
T. Neuberger, K. Aldridge, C. A. Hill, J. A. Austin, T. M. Ryan, C. Percival, N. Martinez-Abadias, Y. Wang, E. Wang Jabs, A. G. Webb, and J. T. Richtsmeier The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA, United States, University of Missouri-School of Medicine, Department of Anthropology, Pennsylvania State University, University Park, PA, United St...
متن کاملNovel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome
Apert syndrome (AS), the most severe form craniosynostosis, is characterized by premature fusion of coronal sutures. Approximately 70% of AS patients carry S252W gain-of-function mutation in FGFR2. Besides the cranial phenotype, brain dysmorphologies are present and are not seen in other FGFR2-asociated craniosynostosis, such as Crouzon syndrome (CS). Here, we hypothesized that S252W mutation l...
متن کاملAbnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. Two-thirds of affected individuals have a S252W mutation in fibroblast growth factor receptor 2 (FGFR2). To study the pathogenesis of this condition, we generated a knock-in mouse model with this mutation. The Fgfr2(+/S252W) mutant mice have abnormalities of the skeleton, as well as ...
متن کاملThe study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model.
Apert syndrome is caused by mutations in fibroblast growth factor receptor 2 (Fgfr2) and is characterized by craniosynostosis and other skeletal abnormalities. The Apert syndrome Fgfr2+/S252W mouse model exhibits perinatal lethality. A 3D hydrogel culture model, derived from tissue engineering strategies, was used to extend the study of the effect of the Fgfr2+/S252W mutation in differentiating...
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ژورنال
عنوان ژورنال: Developmental Dynamics
سال: 2010
ISSN: 1058-8388,1097-0177
DOI: 10.1002/dvdy.22218