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Osteochondrodysplasias

Known as: Congenital Skeletal Dysplasia, Skeletal dysplasia, Osteochondrodysplasia 
A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
SummaryThe transient receptor potential (TRP) multigene superfamily encodes integral membrane proteins that function as ion… 
Review
2007
Review
2007
Review
2006
Review
2006
U Because skeletal dysplasias are primary disorders of bone, they have not been commonly understood as neurosurgical diseases… 
Highly Cited
2002
Highly Cited
2002
Van Buchem disease is an autosomal recessive skeletal dysplasia characterised by generalised bone overgrowth, predominantly in… 
Highly Cited
1999
Highly Cited
1999
Perlecan, a large, multi-domain, heparan sulfate proteoglycan originally identified in basement membrane, interacts with… 
Highly Cited
1999
Highly Cited
1999
Cathepsin K is a cysteine protease expressed predominantly in osteoclasts. Activated cathepsin K cleaves key bone matrix proteins… 
Highly Cited
1997
Highly Cited
1997
Two lines of evidence suggest that the Sry-related gene Sox9 is important for chondrogenesis in mammalian embryos. Sox9 mRNA is… 
Highly Cited
1994
Highly Cited
1994
The parathyroid hormone-related peptide (PTHrP) gene was disrupted in murine embryonic stem cells by homologous recombination…