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Achondroplasia
Toxic gain function

Achondroplasia

  • Genotype

     FGFR3 

  • Mechanism

    Toxic gain function

  • Phenotype

    Locomotor activity, Motor coordination, Exploratory behavior, Fatigue, Pain

  • Biomarker

    Alkaline phosphatase, Osteocalcin, MMP-13

  • Gene Expression Markers

    stat1, mapk1, raf1, sox9, igf1, casp3

  • Physiology Changes

    Reduced growth, Increased head body ratio, Altered bone mineral density

  • Histology Grading Endpoint

    Disorganization of Proliferative zone, Premature hypertrophy, Irregular bone architecture, Decreased columnar organization

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