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In summary, it is not easy to differentiate stickler syndrome (STL) from early-onset high myopia with routine ocular examination in outpatient clinics. Awareness of atypical phenotypes and newly recognized signs may be of help in identifying atypical STL, especially in children at eye clinics.
The findings of the current study expand the established mutation spectrum of COL2A1, and may facilitate genetic counseling and development of therapeutic strategies for patients with Stickler syndrome.
Results suggest that COL2A1 was a likely susceptibility gene of Kashin-Beck disease (KBD). COL2A1 may be implicated in the growth and development failure of hand of KBD.
COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family.
Retention of misfolded R740C and R789C proteins triggered an ER stress response. R740C and R789C proteins displayed significantly reduced melting temperatures.
the novel mutation of COMP may result in intracellular accumulation of the mutant protein. Decreased plasma COMP and increased plasma CTX-II may potentially serve as diagnostic markers of PSACH but may not be applicable in the presymptomatic carrier.
In summary, regarding the association between Type II Collagen Degradation Marker (CTx-II) and VDR polymorphisms in patients with osteochondrosis, this study observed the presence of higher CTx-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 expression, miR-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 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.
Unique charge-dependent constraints on collagen recognition by integrin alpha10beta1 have been described.
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.
Spondylometaphyseal dysplasia (SMD) corner fracture type is a heterogeneous disorder with a subset of patients showing overlap with type II collagenopathies. Thus, COL2A1 molecular testing should be considered in patients with the finding of corner fracture-like lesions in the settings of SMD.
High type II collagen expression is associated with intervertebral disc degeneration.
Endoplasmic reticulum stress participates in the progress of senescence and apoptosis of osteoarthritic chondrocytes, which manifested in increased expression of ADAMTS5, MMP13, and decreased COL2A1 expression.
results highlight the contribution of ELF3 to transcriptional regulation of COL2A1
Half of the Stickler patients (46%) carried a COL2A1 variant, and the molecular spectrum was different across the phenotypes.
In contrast to previous studies using C2C the present study demonstrated that synovial levels of Coll2-1 were significantly elevated in tarsocrural joints affected with osteochondrosis
These results suggested that serum and synovial fluid (SF) collagen type II (CTX-II) concentrations and SF:serum CTX-II ratio may be used to detect cartilage degradation in horses with joint injury.
These results suggest that PEP-1-SIRT2 promotes matrix metalloproteinases-induced dedifferentiation via ERK signaling in articular chondrocytes.
Collagen type II serum levels, along with COMP levels, were effective for early osteoarthritis diagnosis in an animal model.
The expression of II type collagen and MMP-7 is correlated to a retrogression of acetabular cartilage and increases obviously in early developmental dysplasia. [MMP7]
this study's findings indicate that endothelial Del-1 not influence atherosclerosis development in ApoE(-/-) mice
Overexpression of Dlx2 enhances early chondrocyte differentiation by increasing accumulation of Col2alpha1, type II collagen and aggrecan, but interferes later stages of chondrocyte differentiation through inhibiting MMP13 expression.
Detection of transcripts of Collagen type2 A1 (Col2a1) revealed that both e trabecular cartilageand the anterior part of the hypophyseal cartilage developing anterior to the persistent epithelial stalk of the anterior lobe of the pituitary gland were suppressed in the Foxc1(ch/ch) .
found bone destruction and bone loss phenotype in vertebral bone in beta-catenin(Col2CreER) KO mice
Kartogenin effectively increased the expression of Col II and aggrecan in hNPCs and slowed the degeneration of intervertebral discs stimulated by IL-1b and TNF-a
These findings suggest a novel mechanism of action of SOX5/6; namely, the SOX9/5/6 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 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 activates Wnt/beta-catenin signaling to reduce Col2a1 and Sox9 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-2/13 expression.
a mouse of model of spondyloepiphyseal dysplasia is associated with the R992C substitution in collagen II
The increased expressions of the cartilage-associated proteins Collagen2 and alpha-SMA during scleral chondrogenesis accompany myopia development.
Results indicate the ability of type II collagen (CII) to generate CII-specific anterior chamber-associated immune deviation (ACAID)-mediated immune tolerance in vivo and in vitro in both DBA/1 mice and C57BL/6 mice.
expression of the Col2a1 IIC splice form may have a regulatory function in controlling alternative splicing of exon 2 to generate defined proportions of IIA, IID and IIB procollagen isoforms during cartilage development
regulates Mac-1-mediated complement-dependent phagocytosis
characterization of the Col2a1(+ex2) mice has surprisingly shown that disruption of alternative splicing does not affect overt cartilage formation
Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model.
Analysis of tissue maturation markers showed an increase in COLL II and a decrease in SOX9 expression in the swine tibial menisci with age.
skeletal maturity may influence anterior cruciate ligament cells' metabolic activity, apoptosis, collagen production, and response to platelet rich plasma.
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
a first example of a dominant COL2A1 splice site variant as candidate causal mutation of a severe lethal chondrodysplasia phenotype
Denaturation of the chimeric collagen increased its affinity for fibronectin, as seen for mammalian collagens.
Two subsystems of meniscal collagen and their different thermal stabilities.
Data show that expression of mRNAs for aggrecan, collagen type II, and versican were significantly effected by the intervention.
Data show that biglycan, collagen type I, collagen type II, decorin, and versican were significantly affected by vibration duration, frequency, and amplitude.
The distribution of type II and VI collagen was immunocytochemically investigated in bovine articular and nasal cartilage.
Precisely the same conformational epitope constituted by the residues ARGLT on the three chains of the CII triple helix is recognized by the CB268 and CII-C1 mAbs.
specific ADAMTS-2 domains cleave the aminopropeptide of fibrillar procollagens types I-III and V
Changes in aggrecan 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 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