The primary site of the acrocephalic feature in Apert syndrome is a dwarf cranial base with accelerated chondrocytic differentiation due to aberrant activation of the FGFR2 signaling

Bone

Volumn 48, Issue 4, 2011, Pages 847-856

  Nagata, Masaki ^a   Nuckolls, Glen H ^b   Wang, Xibin ^b   Shum, Lillian ^c   Seki, Yukie ^a   Kawase, Tomoyuki ^a   Takahashi, Katsu ^d   Nonaka, Kazuaki ^e   Takahashi, Ichiro ^e   Noman, Arhab A ^a   Suzuki, Kenji ^a   Slavkin, Harold C ^f  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^c NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^d KYOTO UNIVERSITY   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

Aberrant ligand specificity; Accelerated endochondral ossification; Apert syndrome; Dwarf cranial base; Fgfr2IIIcP253R transgenic mouse

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR 10; FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PROLINE;

ACROCEPHALOSYNDACTYLY; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BINDING AFFINITY; BONE GROWTH; CARTILAGE CELL; CELL DIFFERENTIATION; COL2A1 GENE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; ENCHONDRAL OSSIFICATION; ENHANCER REGION; FGFR2IIIC GENE; GENE; GENE EXPRESSION REGULATION; GROWTH DISORDER; HYPOPLASIA; JAW DISEASE; LHH GENE; MAXILLA; MMP 13 GENE; MOUSE; NONHUMAN; OSTEOBLAST; P21 GENE; PROMOTER REGION; PROTEIN EXPRESSION; RECEPTOR BINDING; SIGNAL TRANSDUCTION; SKULL BASE FRACTURE; SOX9 GENE; TRANSGENIC MOUSE; UPREGULATION;

ACROCEPHALOSYNDACTYLIA; ANIMALS; BASE SEQUENCE; DNA PRIMERS; IN SITU HYBRIDIZATION; MALE; MICE; MICE, TRANSGENIC; MUTAGENESIS, SITE-DIRECTED; POLYMERASE CHAIN REACTION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SIGNAL TRANSDUCTION; TRANSGENES;

EID: 79952698205     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2010.11.014     Document Type: Article

References (40)

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