COL2A1 gene

Known as: STL1, collagen type II alpha 1, COLLAGEN OF CARTILAGE 
This gene plays a role in both skeletal development and cartilage structure.
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Chondrosarcoma is a heterogeneous collection of malignant bone tumors and is the second most common primary malignancy of bone… (More)
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Highly Cited
2011
Highly Cited
2011
Cartilage and endochondral bone development require SOX9 activity to regulate chondrogenesis, chondrocyte proliferation, and… (More)
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2010
2010
Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous… (More)
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Highly Cited
2007
Highly Cited
2007
OBJECTIVE To assess whether the association of genetic polymorphisms with osteoarthritis (OA) in other populations could be… (More)
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2000
2000
AIMS To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1… (More)
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Highly Cited
1997
Highly Cited
1997
The identification of mutations in the SRY-related SOX9 gene in patients with campomelic dysplasia, a severe skeletal… (More)
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Highly Cited
1997
Highly Cited
1997
Mutations in human SOX9 are associated with campomelic dysplasia (CD), characterised by skeletal malformation and XY sex… (More)
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1995
1995
The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage1… (More)
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1993
1993
Kniest and Stickler dysplasia are two chondrodysplasias characterized by specific phenotypes. No basic defect has been found in… (More)
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Highly Cited
1991
Highly Cited
1991
Linkage analysis with restriction fragment length polymorphisms for the gene for type II procollagen (COL2A1) was carried out in… (More)
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