Important Info Flashcards
Chondrodysplasias can be caused by problems in:
type 2 collagen, SOX9, IHH, PTHRP, FGFR3, type X collagen, Aggrecan
Problems w Collagen X can give you
Osteogenesis Imperfecta
Mice lacking _______ form a cartilaginous skeleton that fails to mineralize
RUNX 2
Stone man syndrome or Fibrodysplasia ossificans progressiva (FOP) involves mutations in…
BMP
Sclerostin is antagonist to what signaling pathway?
Wnt/Beta catenin
What cell involves cathepsin K, CLCN7, chlorine channels, etc.
osteoclast
During hypertrophy chondrocytes express what type of collagen
type X collagen
What are the key regulators of chondrogenesis?
Ihh and PTHrP
The disorder of Aggrecan Associated with Chondrodysplasias results in?
extremely short stature
Mutations in what gene causes hypophosphatasia (rare heritable rickets)?
TNSALP
Type _____ collagen anchoring fibrils to basal lamina
7