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COL9A1 encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage.
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the COL9A1 rs35470562 variant may contribute to congenital talipes equinovarus susceptibility in the Chinese population examined.
We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.
The study demonstrated that hypermethylation is associated with down-regulation of COL9A1 expression in osteoarthritic (OA) cartilage and highlights the pivotal role of epigenetics in OA.
The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix.
Type IX collagen interacts with fibronectin (zeige FN1 ELISA Kits) providing an important molecular bridge in articular cartilage
A second, novel mutation was identified in COL9A1, causing autosomal recessive Stickler syndrome together with the previously described nucleotide change in two separate families.
COL9A1 protein is highly expressed in patients with idiopathic congenital talipes equinovarus (ICTEV) and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV.
NC2 domain of collagen IX provides chain selection and heterotrimerization
Data show that the proximal-promoter region of the human COL9A1 gene can drive expression of a reporter gene in chondrocytic RCS cells, but not in nonchondrocytic cell lines.
the amino-terminal NC4 domain of human collagen IX interacts with glycosaminoglycans and cartilage oligomeric matrix protein (zeige COMP ELISA Kits)
An accelerated hypertrophic differentiation caused by a disturbed Ihh (zeige IHH ELISA Kits)-PTHrP signaling pathway may lead to a higher bone mineral density in the vertebral bodies of newborn Col (zeige HDAC1 ELISA Kits) IX -/- mice and, as a result, to the early onset of disc degeneration.
Results show that absence of Col (zeige HDAC1 ELISA Kits) IX induces early developmental, structural and biomechanical alterations in both vertebral body and intervertebral disc which eventually cause severe degenerative changes in the aging spine.
They test the hypothesis that aged Col9a1(-/-) mice would reduce joint pain by adopting locomotor behaviors that reduce both the magnitude and daily frequency of joint loading.
Loss of type IX collagen and COMP (zeige COMP ELISA Kits) leads to matrix aberrations that may make cartilage more susceptible to degeneration.
all long bones are shorter and broader in newborn Col9a1-/- mice
Col9a1(-/-) mice present behavioral changes consistent with anatomic signs of osteoarthritis and intervertebral disc degeneration.
This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene.
collagen type IX alpha I
, collagen, type IX, alpha 1
, alpha 1 type IX collagen
, collagen alpha-1(IX) chain-like
, alpha-1(IX) collagen chain
, cartilage-specific short collagen
, collagen IX, alpha-1 polypeptide
, collagen alpha-1(IX) chain
, procollagen, type IX, alpha 1
, alpha(IX) collagen-proteoglycan
, cartilage alpha(IX) collagen