COL1A1 gene

Known as: COLLAGEN, TYPE I, ALPHA-1, COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-1 CHAIN, collagen type I alpha 1 
This gene plays an important structural role in cartilage and mutations in the gene are associated with osteogenesis imperfecta.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1985-2017
0102019852017

Papers overview

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2010
2010
A meta-analysis of studies was conducted involving 24,511 participants with 7,864 fractures in which polymorphisms in the 5… (More)
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2010
2010
Three studies have suggested that the rare TT genotype of the functional Sp1 binding site polymorphism within intron 1 of COL1A1… (More)
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2009
2009
BACKGROUND Anterior cruciate ligament (ACL) ruptures are considered the most severe injury sustained in sports. Although various… (More)
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2009
2009
Sequence variants within the type V collagen (COL5A1) and tenascin C (TNC) genes have to date been shown to be associated with… (More)
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2007
2007
The collagen type Ι alpha Ι (COL1A1) gene encodes the extracellular matrix component, collagen, and resides in candidate MYP5 for… (More)
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2005
2005
Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a strong genetic component, and several… (More)
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2001
2001
Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy, presents specific cytogenetic… (More)
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1999
1999
OBJECTIVE To examine the relationship between a common polymorphism within intron 1 of the COL1A1 gene and osteoporosis in a… (More)
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1996
1996
Nonsense and frameshift mutations, which predict premature termination of translation, often cause a dramatic reduction in the… (More)
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1990
1990
The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant… (More)
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