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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

Papers overview

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Highly Cited
2011
Highly Cited
2011
Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I… Expand
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2010
2010
The Sp1 binding site polymorphism in collagen type I alpha 1 gene (COLIA1) has been associated with osteoporosis (OP) and bone… Expand
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2007
2007
The COLIA1 Sp1 polymorphism has been associated with bone mineral density (BMD) and fracture. A promoter polymorphism, -1997 G/T… Expand
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Review
2006
Review
2006
It has been known for over 20 years that osteoporosis is highly influenced by genetic factors. Bone mineral density (BMD) has… Expand
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Highly Cited
2004
Highly Cited
2004
Objectives: To examine whether collagen type I α1 (COLIA1) Sp1 polymorphism is associated with osteoporosis and/or intervertebral… Expand
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Highly Cited
2004
Highly Cited
2004
OBJECTIVES To examine whether collagen type I alpha1 (COLIA1) Sp1 polymorphism is associated with osteoporosis and/or… Expand
2002
2002
Twin and family studies have demonstrated that a large part of a population's variance in bone mineral density (BMD) is… Expand
2002
2002
Abstract:Some studies have suggested that bone turnover markers (BTM) and collagen type I alpha 1 gene (COLIA1) may be useful in… Expand
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2001
2001
Background: In a previous study, we showed an association between the vitamin D receptor (VDR) gene BsmI restriction fragment… Expand
Highly Cited
1998
Highly Cited
1998
Genetic factors play an important role in the pathogenesis of osteoporosis, and recent studies have shown that a polymorphic Sp1… Expand