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COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family.
the novel mutation of COMP (show COMP Proteins) may result in intracellular accumulation of the mutant protein. Decreased plasma COMP (show COMP Proteins) and increased plasma CTX (show CYP27A1 Proteins)-II may potentially serve as diagnostic markers of PSACH (show COMP Proteins) but may not be applicable in the presymptomatic carrier.
In summary, regarding the association between Type II Collagen Degradation Marker (CTx (show CYP27A1 Proteins)-II) and VDR (show CYP27B1 Proteins) polymorphisms in patients with osteochondrosis, this study observed the presence of higher CTx (show CYP27A1 Proteins)-II circulating levels in patients with bb, Aa ,and TT genotypes, and F and T alleles, in comparison with the healthy controls.
A c.G1636A (p.G546S) mutation in the COL2A1 in 3 members of a family was associated with different metaphyseal changes. Findings revealed a different causative amino acid substitution (glycine to serine) associated with the "dappling" and "corner fracture" metaphyseal abnormalities and may provide a useful reference for evaluating the phenotypic spectrum and variability of type II collagenopathies.
By acting probably as a posttranscriptional regulator with a different efficacy on COL2A1 and COL1A2 (show COL1A2 Proteins) expression, miR (show MLXIP Proteins)-29b can contribute to the collagens imbalance associated with an abnormal chondrocyte phenotype.
Strong correlations between the expression of type I, II, IV collagen and osteopontin (show SPP1 Proteins) and the clinical stage of tympanosclerosis indicate the involvement of these proteins in excessive fibrosis and pathological remodeling of the tympanic membrane.
In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene.
We identified three novel heterozygous COL2A1 mutations (Gly537Asp, Gly909Ser, and Gly1149Val) in three unrelated Chinese Spondyloepiphyseal dysplasia congenita families.
We report a novel nonsense mutation in exon 2 of COL2A1 that displays incomplete penetrance and/or variable age of onset with extraocular manifestations.
Report examines how a COL2A1 intron 2 de novo variant and polymorphism affect exon 2 inclusion in the COL2A1 transcript, and identifies potential transacting splicing factors that interact with these different pre-mRNA sequences. Also, using a cohort of patients with rhegmatogenous retinal detachment and controls, a significant difference was found in the frequency of the COL2A1 variant rs1635532 between the two groups.
In contrast to previous studies using C2C the present study demonstrated that synovial levels of Coll2 (show SEMA3D Proteins)-1 were significantly elevated in tarsocrural joints affected with osteochondrosis
These results suggested that serum and synovial fluid (SF) collagen type II (CTX (show VSIG1 Proteins)-II) concentrations and SF:serum CTX (show VSIG1 Proteins)-II ratio may be used to detect cartilage degradation in horses with joint injury.
These results suggest that PEP-1-SIRT2 (show SIRT2 Proteins) promotes matrix metalloproteinases-induced dedifferentiation via ERK (show MAPK1 Proteins) signaling in articular chondrocytes.
Collagen type II serum levels, along with COMP (show COMP Proteins) levels, were effective for early osteoarthritis diagnosis in an animal model.
The expression of II type collagen and MMP-7 (show MMP7 Proteins) is correlated to a retrogression of acetabular cartilage and increases obviously in early developmental dysplasia. [MMP7 (show MMP7 Proteins)]
found bone destruction and bone loss phenotype in vertebral bone in beta-catenin (show CTNNB1 Proteins)(Col2CreER) KO mice
Kartogenin effectively increased the expression of Col (show HDAC1 Proteins) II and aggrecan (show ACAN Proteins) in hNPCs and slowed the degeneration of intervertebral discs stimulated by IL-1b (show IL1B Proteins) and TNF-a (show TNF Proteins)
These findings suggest a novel mechanism of action of SOX5 (show SOX5 Proteins)/6; namely, the SOX9 (show SOX9 Proteins)/5/6 combination enhances Col2a1 transcription through a novel enhancer in intron 6 together with the enhancer in intron 1.
this study shows role of Del-1 in the regulation of platelet-monocyte interplay and the subsequent heterotypic aggregate formation in the blood-mediated inflammatory reaction in islet transplantation
Alpha-tectorin and beta-tectorin (show TECTB Proteins) crosslink type II collagen fibrils and connect the tectorial membrane to the spiral limbus.
Col2 expression was seen in the prehypertrophic zone of the mandibular condyle cartilage.
Rspo2 (show RSPO2 Proteins) activates Wnt (show WNT2 Proteins)/beta-catenin (show CTNNB1 Proteins) signaling to reduce Col2a1 and Sox9 (show SOX9 Proteins) and to facilitate differentiation of proliferating chondrocytes into hypertrophic chondrocytes in growth cartilage
The MC13 mutation in Col2a1 causes an incompletely penetrant splicing defect.
The mutant G1170S Col2a1 gene in mice clearly alters the transgenic murine phenotype and cartilage matrix homeostasis.
Data indicate that tamoxifen decreased collage type II COL2A1 by activating matrix metallopeptidases MMP-2 (show MMP2 Proteins)/13 expression.
Analysis of tissue maturation markers showed an increase in COLL II and a decrease in SOX9 (show SOX9 Proteins) expression in the swine tibial menisci with age.
Data suggest that focal adhesion kinase (FAK)-SMAD 2/3 mediate signal crosstalk between type II collagen and TGF-beta1 and regulate glycosaminoglycan secretion in chondrocytic cells.
spontaneous missense mutation within COL2A1 in chondrodysplasia (show COL11A1 Proteins)
a first example of a dominant COL2A1 splice site variant as candidate causal mutation of a severe lethal chondrodysplasia (show COL11A1 Proteins) phenotype
Denaturation of the chimeric collagen increased its affinity for fibronectin (show FN1 Proteins), as seen for mammalian collagens.
Data show that expression of mRNAs for aggrecan (show ACAN Proteins), collagen type II, and versican (show Vcan Proteins) were significantly effected by the intervention.
Data show that biglycan (show BGN Proteins), collagen type I, collagen type II, decorin (show DCN Proteins), and versican (show Vcan Proteins) were significantly affected by vibration duration, frequency, and amplitude.
specific ADAMTS-2 domains cleave the aminopropeptide of fibrillar procollagens types I-III and V
Changes in aggrecan (show ACAN Proteins) and type II collagen promoter activity in transfected chondrocyte-laden cylindrical constructs were evaluated in response to a range of loading frequencies and durations.
SMase down-regulates type II collagen in articular chondrocytes via activation of the ERK signaling cascade, redistribution of SOX9, and recruitment of c-Fos
Response of the chondrocyte to a cryptic sequence of denaturated type II collagen may play a role in naturally occurring hypertrophy in endochondral ossification and in the development of cartilage pathology in osteoarthritis.
IGF-I (show IGF1 Proteins) dose-dependently maintained cartilage formation
A small highly conserved sequence (R2) located 1.7 kb upstream of the presumptive transcriptional initiation siteof Col2a1a gene, was identified.
Data show that both col1a1a and col2a1b were found in actinotrichia forming cells.
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene.
alpha-1 type II collagen
, cartilage collagen
, collagen II, alpha-1 polypeptide
, collagen alpha-1(II) chain
, collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
, type II collagen
, collagen type IIA
, pro alpha1 type II collagen
, disproportionate micromelia
, procollagen, type II, alpha 1
, Procollagen II alpha 1
, collagen type II (Col2A1) gene, enhancer region
, alpha 1 type II procollagen
, alpha 1 type IIA collagen
, procollagen alpha 1(II)
, type II collagen alpha1
, alpha-1 type II' collagen
, cyanogen bromide
, pro-alpha 1(II)
, collagen, type II, alpha 1
, collagen alpha-1(II) chain-like
, collagen type II
, collagen type II, alpha 1