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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

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COL1A1 wt Allele
COL1A2 geneCOL1A2 wt AlleleCell AdhesionCell Movement

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or… 
2014
2014
[Association of collagen type I alpha1 Sp1 polymorphism with intervertebral disc degeneration in Han elderly people].
  • P. LinQ. Fu
  • Sichuan da xue xue bao. Yi xue ban = Journal of…
  • 2014
  • Corpus ID: 11727435
OBJECTIVE To examine the association of collagen type I alpha1 (COLIA1) Sp1 polymorphism with intervertebral disc degeneration in… 
2011
2011
Sp1 polymorphism in collagen I α1 gene is associated with osteoporosis in lumbar spine of Mexican women
The Sp1 binding site polymorphism in collagen type I alpha 1 gene (COLIA1) has been associated with osteoporosis (OP) and bone… 
2010
2010
Association of collagen type I alpha1 gene polymorphism with bone mineral density in osteoporotic women in Serbia.
BACKGROUND The collagen type I alpha1 (COLIA1) gene encodes for a major bone protein and is a strong candidate for genetic… 
2009
2009
Association of Collagen Type I α1 (COLIA1) Sp1 Polymorphism with Osteoporotic Fracture in Caucasian Post-menopausal Women: a Meta-analysis
This study was designed to summarize quantitatively the evidence for a relationship between collagen type I α1 (COLIA1) Sp1… 
2007
2007
The -1997 G/T and Sp1 Polymorphisms in the Collagen Type I alpha1 (COLIA1) Gene in Relation to Changes in Femoral Neck Bone Mineral Density and the Risk of Fracture in the Elderly: The Rotterdam…
The COLIA1 Sp1 polymorphism has been associated with bone mineral density (BMD) and fracture. A promoter polymorphism, -1997 G/T… 
Review
2006
Review
2006
Recent advances in the genetics of osteoporosis.
It has been known for over 20 years that osteoporosis is highly influenced by genetic factors. Bone mineral density (BMD) has… 
2002
2002
Performance of COLIA1 Polymorphism and Bone Turnover Markers to Identify Postmenopausal Women with Prevalent Vertebral Fractures
Abstract:Some studies have suggested that bone turnover markers (BTM) and collagen type I alpha 1 gene (COLIA1) may be useful in… 
2001
2001
Relation of collagen type I alpha 1 (COLIA 1) and vitamin D receptor genotypes to bone mass, turnover, and fractures in early postmenopausal women and to hip fractures in elderly people.
2000
2000
Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2.
To improve prenatal diagnosis of osteogenesis imperfecta (OI) in Lithuania, possibilities of indirect molecular genetic diagnosis… 
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