Multiple Consequences of a Single Amino Acid Pathogenic RTK Mutation: The A391E Mutation in FGFR3

PLoS ONE

Volumn 8, Issue 2, 2013, Pages

  Chen, Fenghao ^a   Sarabipour, Sarvenaz ^a   Hristova, Kalina ^a  

^a Johns Hopkins University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; FIBROBLAST GROWTH FACTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GLUTAMIC ACID; PROTEIN TYROSINE KINASE;

ACANTHOSIS NIGRICANS; AMINO ACID ANALYSIS; ARTICLE; CELL ACTIVATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CROUZON SYNDROME; DIMERIZATION; DISEASE ASSOCIATION; ENZYME ACTIVATION; ENZYME REGULATION; FGF1 GENE; FGFR3 GENE; GENE ACTIVATION; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LIGAND BINDING; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; PHYSICAL CHEMISTRY; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; WESTERN BLOTTING;

ACANTHOSIS NIGRICANS; AMINO ACID SUBSTITUTION; CRANIOFACIAL DYSOSTOSIS; GENE EXPRESSION REGULATION; HEK293 CELLS; HUMANS; MUTATION; PHOSPHORYLATION; PROTEIN BINDING; PROTEIN MULTIMERIZATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SIGNAL TRANSDUCTION; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84874269934     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0056521     Document Type: Article

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