The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling

Developmental Dynamics

Volumn 239, Issue 6, 2010, Pages 1888-1900

  Mai, S ^a   Wei, K ^a   Flenniken, A ^b   Adamson, S L ^b,c   Rossant, J ^b,d,e   Aubin, J E ^a,b,e   Gong, S G ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Birth defects; Craniofacial development; Craniosynostosis; Epithelial mesenchymal interactions; FGF signaling; Fgfr2 IIIb and IIIc isoforms; Hypoplastic maxilla; Ligand independent activation; Mouse model for human diseases; Nasal septal cartilage

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; TRANSCRIPTION FACTOR III; TRANSCRIPTION FACTOR IIIB; TRANSCRIPTION FACTOR IIIC; UNCLASSIFIED DRUG; ISOPROTEIN;

AGENESIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CODON; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DEVELOPMENTAL DISORDER; EMBRYO; FEMALE; GENE ACTIVATION; HETEROZYGOSITY; HOMOZYGOTE; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; TISSUE SPECIFICITY; ALTERNATIVE RNA SPLICING; ANIMAL; ANIMAL EMBRYO; C3H MOUSE; C57BL MOUSE; CROSS BREEDING; GENETICS; HETEROZYGOTE; METABOLISM;

MURINAE;

ALTERNATIVE SPLICING; ANIMALS; CRANIOFACIAL DYSOSTOSIS; CRANIOSYNOSTOSES; CROSSES, GENETIC; EMBRYO, MAMMALIAN; FEMALE; HETEROZYGOTE; HOMOZYGOTE; MALE; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MUTATION, MISSENSE; PROTEIN ISOFORMS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SIGNAL TRANSDUCTION;

EID: 77952715704     PISSN: 10588388     EISSN: 10970177     Source Type: Journal    
DOI: 10.1002/dvdy.22314     Document Type: Article

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