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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… Expand
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Review
2007
Review
2007
Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a wide spectrum of diseases… Expand
Highly Cited
2002
Highly Cited
2002
Van Buchem disease is an autosomal recessive skeletal dysplasia characterised by generalised bone overgrowth, predominantly in… Expand
Highly Cited
1999
Highly Cited
1999
Perlecan, a large, multi-domain, heparan sulfate proteoglycan originally identified in basement membrane, interacts with… Expand
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Highly Cited
1999
Highly Cited
1999
Cathepsin K is a cysteine protease expressed predominantly in osteoclasts. Activated cathepsin K cleaves key bone matrix proteins… Expand
Highly Cited
1998
Highly Cited
1998
Cathepsin K is a recently identified lysosomal cysteine proteinase. It is abundant in osteoclasts, where it is believed to play a… Expand
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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… Expand
Highly Cited
1996
Highly Cited
1996
Pycnodysostosis, an autosomal recessive osteochondrodysplasia characterized by osteosclerosis and short stature, maps to… Expand
Highly Cited
1995
Highly Cited
1995
Hypochondroplasia (MIM 146000) is an autosomal dominant skeletal dysplasia with skeletal features similar to but milder than… Expand
Highly Cited
1994
Highly Cited
1994
The parathyroid hormone-related peptide (PTHrP) gene was disrupted in murine embryonic stem cells by homologous recombination… Expand
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