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FGFR2 NP_000132.3:p.S252W

Known as: FGFR2 S252W, FGFR2 p.S252W, CD332 Antigen Ser252Trp 
A change in the amino acid residue at position 252 in the fibroblast growth factor receptor 2 protein where serine has been replaced by tryptophan.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes
The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types… Expand
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2014
2014
Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.
Bones of the craniofacial skeleton are derived from two distinct cell lineages, cranial neural crest and mesoderm, and articulate… Expand
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2013
2013
Novel 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… Expand
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2013
2013
Reduces Bone Mass as in Human Apert Syndrome
Apert syndrome is a common craniosynostosis caused by gain‐of‐function missense mutations of fibroblast growth factor receptor 2… Expand
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2010
2010
Brain phenotypes in a mouse model for Apert Syndrome [abstract]
Apert Syndrome (AS) is one of several fibroblast growth factor receptor (FGFR) related craniosynostosis syndromes. Individuals… Expand
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2009
2009
Skull morphology of mice carrying gain-of-function mutation of FGFR2 Ser252Trp by Euclidean distance matrix analysis
Objective To validate the mouse carrying Ser252Trp mutation in fibroblast growth factor receptor(FGFR2) as a model for human… Expand
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2007
2007
Differential Effects of FGFR2 Mutation in Ophthalmic Findings in Apert Syndrome
Apert syndrome is mostly caused by one of the two specific point mutations in the fibroblast growth factor receptor 2 (FGFR2… Expand
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Highly Cited
2004
Highly Cited
2004
Cbl-mediated Degradation of Lyn and Fyn Induced by Constitutive Fibroblast Growth Factor Receptor-2 Activation Supports Osteoblast Differentiation*
Fibroblast growth factors (FGFs) play an important regulatory role in skeletal development and bone formation. However, the FGF… Expand
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Highly Cited
2001
Highly Cited
2001
Role of N‐Cadherin and Protein Kinase C in Osteoblast Gene Activation Induced by the S252W Fibroblast Growth Factor Receptor 2 Mutation in Apert Craniosynostosis
Apert (Ap) syndrome is characterized by premature cranial suture ossification caused by fibroblast growth factor receptor 2 (FGFR… Expand
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Highly Cited
2000
Highly Cited
2000
The Ser252Trp fibroblast growth factor receptor-2 (FGFR-2) mutation induces PKC-independent downregulation of FGFR-2 associated with premature calvaria osteoblast differentiation.
We recently showed that the Apert Ser252Trp fibroblast growth factor receptor-2 (FGFR-2) mutation causes premature osteoblast… Expand
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