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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

Related topics

Related topics

12 relations
COL2A1Cell AdhesionCell MovementCollagen Alpha-1 (II) Chain

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Glucose repression over Saccharomyces cerevisiae glycerol/H+ symporter gene STL1 is overcome by high temperature
Highly Cited
2003
Highly Cited
2003
A Missense Mutation in the Mouse Col2a1 Gene Causes Spondyloepiphyseal Dysplasia Congenita, Hearing Loss, and Retinoschisis
A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human… 
1998
1998
Lack of association between osteoarthritis of the hip and gene polymorphisms of VDR, COL1A1, and COL2A1 in postmenopausal women.
OBJECTIVE To evaluate whether DNA polymorphisms of the VDR (vitamin D receptor), COL1A1 (alpha1 type I collagen), and COL2A1… 
Highly Cited
1997
Highly Cited
1997
Disproportionate micromelia (Dmm) in mice caused by a mutation in the C‐propeptide coding region of Col2a1
Mice that are homozygous for the autosomal semidominant disproportionate micromelia (Dmm) mutation are characterized by… 
Highly Cited
1996
Highly Cited
1996
Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?
OBJECTIVE To define the genetic basis of a family with an autosomal, dominantly inherited form of spondyloepiphyseal dysplasia… 
Highly Cited
1995
Highly Cited
1995
Tissue‐Specific and differential expression of alternatively spliced α1(II) collagen mRNAs in early human embryos
Expression of the α1(II) procollagen gene is not confined to chondrogenic tissues during vertebrate development. Transcripts of… 
1994
1994
Expression and localization of COL2A1 mRNA and type II collagen in human fetal cochlea
Highly Cited
1993
Highly Cited
1993
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.
A series of oligonucleotide primers was designed to generate polymerase chain reaction products that contained exons 6 to 49 of… 
1993
1993
Characterization of the COL2A1 VNTR polymorphism.
The variable number of tandem repeat (VNTR) region 3' to the collagen type II gene (COL2A1) was amplified in vitro by the… 
1986
1986
The human type II collagen gene (COL2A1) assigned to 12q14.3
A cosmid clone containing the entire human type II α1 collagen gene (COL2A1) was used as probe in the Southern analysis of DNA… 
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