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Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
Development. 2005 Aug; 132(15):3537-48.D

Abstract

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 of other organs including the brain, thymus, lungs, heart and intestines. In the mutant neurocranium, we found a midline sutural defect and craniosynostosis with abnormal osteoblastic proliferation and differentiation. We noted ectopic cartilage at the midline sagittal suture, and cartilage abnormalities in the basicranium, nasal turbinates and trachea. In addition, from the mutant long bones, in vitro cell cultures grown in osteogenic medium revealed chondrocytes, which were absent in the controls. Our results suggest that altered cartilage and bone development play a significant role in the pathogenesis of the Apert syndrome phenotype.

Authors+Show Affiliations

Institute of Genetic Medicine, Department of Pediatrics, The Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21205, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15975938

Citation

Wang, Yingli, et al. "Abnormalities in Cartilage and Bone Development in the Apert Syndrome FGFR2(+/S252W) Mouse." Development (Cambridge, England), vol. 132, no. 15, 2005, pp. 3537-48.
Wang Y, Xiao R, Yang F, et al. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development. 2005;132(15):3537-48.
Wang, Y., Xiao, R., Yang, F., Karim, B. O., Iacovelli, A. J., Cai, J., Lerner, C. P., Richtsmeier, J. T., Leszl, J. M., Hill, C. A., Yu, K., Ornitz, D. M., Elisseeff, J., Huso, D. L., & Jabs, E. W. (2005). Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development (Cambridge, England), 132(15), 3537-48.
Wang Y, et al. Abnormalities in Cartilage and Bone Development in the Apert Syndrome FGFR2(+/S252W) Mouse. Development. 2005;132(15):3537-48. PubMed PMID: 15975938.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. AU - Wang,Yingli, AU - Xiao,Ran, AU - Yang,Fan, AU - Karim,Baktiar O, AU - Iacovelli,Anthony J, AU - Cai,Juanliang, AU - Lerner,Charles P, AU - Richtsmeier,Joan T, AU - Leszl,Jen M, AU - Hill,Cheryl A, AU - Yu,Kai, AU - Ornitz,David M, AU - Elisseeff,Jennifer, AU - Huso,David L, AU - Jabs,Ethylin Wang, Y1 - 2005/06/23/ PY - 2005/6/25/pubmed PY - 2005/10/19/medline PY - 2005/6/25/entrez SP - 3537 EP - 48 JF - Development (Cambridge, England) JO - Development VL - 132 IS - 15 N2 - 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 of other organs including the brain, thymus, lungs, heart and intestines. In the mutant neurocranium, we found a midline sutural defect and craniosynostosis with abnormal osteoblastic proliferation and differentiation. We noted ectopic cartilage at the midline sagittal suture, and cartilage abnormalities in the basicranium, nasal turbinates and trachea. In addition, from the mutant long bones, in vitro cell cultures grown in osteogenic medium revealed chondrocytes, which were absent in the controls. Our results suggest that altered cartilage and bone development play a significant role in the pathogenesis of the Apert syndrome phenotype. SN - 0950-1991 UR - https://www.unboundmedicine.com/medline/citation/15975938/Abnormalities_in_cartilage_and_bone_development_in_the_Apert_syndrome_FGFR2_+/S252W__mouse_ L2 - http://dev.biologists.org/cgi/pmidlookup?view=long&pmid=15975938 DB - PRIME DP - Unbound Medicine ER -