Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome
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چکیده
منابع مشابه
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
Apert syndrome (AS) is characterized by craniosynostosis (premature fusion of cranial sutures) and severe syndactyly of the hands and feet. Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS. To elucidate the mechanism by which these substitutions cause AS, we determined the crystal structures of...
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Dominantly acting mutations of the fibroblast growth factor (FGF) receptor 2 (FGFR2) gene have been implicated in various craniosynostosis syndromes. Apert syndrome, characterized in addition by syndactyly of the limbs, involves specific mutations at two adjacent residues, Ser252Trp and Pro253Arg, predicted to lie in the linker region between IgII and IgIII of the FGFR2 ligand-binding domain. W...
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D missense mutations in the genes encoding fibroblast growth factor receptors (FGFRs) 1–3 are the etiology of many craniosynostosis (premature fusion of the cranial sutures) and chondrodysplasia (dwarfism) syndromes (1–3). Mutations in Fgfr2 cause craniosynostosis syndromes including Crouzon syndrome, Pfeiffer syndrome, and Apert syndrome (AS). The article in this issue of PNAS by Hajihosseini ...
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Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of cranial sutures. We analyzed proliferation and differentiation of calvaria cells derived from Apert infants and fetuses with FGFR-2 mutations. Histological analysis revealed premature ossification, increased extent of subperiosteal bone formation, and alkaline phosphatas...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2001
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.121183798