Important Info Flashcards

1
Q

Chondrodysplasias can be caused by problems in:

A

type 2 collagen, SOX9, IHH, PTHRP, FGFR3, type X collagen, Aggrecan

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2
Q

Problems w Collagen X can give you

A

Osteogenesis Imperfecta

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3
Q

Mice lacking _______ form a cartilaginous skeleton that fails to mineralize

A

RUNX 2

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4
Q

Stone man syndrome or Fibrodysplasia ossificans progressiva (FOP) involves mutations in…

A

BMP

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4
Q

Sclerostin is antagonist to what signaling pathway?

A

Wnt/Beta catenin

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5
Q

What cell involves cathepsin K, CLCN7, chlorine channels, etc.

A

osteoclast

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6
Q

During hypertrophy chondrocytes express what type of collagen

A

type X collagen

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7
Q

What are the key regulators of chondrogenesis?

A

Ihh and PTHrP

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8
Q

The disorder of Aggrecan Associated with Chondrodysplasias results in?

A

extremely short stature

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9
Q

Mutations in what gene causes hypophosphatasia (rare heritable rickets)?

A

TNSALP

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10
Q

Type _____ collagen anchoring fibrils to basal lamina

A

7

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