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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.
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 (zeige ADAMTS5 Proteine), MMP13 (zeige MMP13 Proteine), and decreased COL2A1 expression.
results highlight the contribution of ELF3 (zeige ELF3 Proteine) to transcriptional regulation of COL2A1
Half of the Stickler patients (46%) carried a COL2A1 variant, and the molecular spectrum was different across the phenotypes.
Femoral and tibial cartilage show a different behaviour concerning expression values for the genes Col1A1 (zeige COL1A1 Proteine), Col2A1 and Agg.
These findings suggest a novel mechanism of action of SOX5 (zeige SOX5 Proteine)/6; namely, the SOX9 (zeige SOX9 Proteine)/5/6 combination enhances Col2a1 transcription through a novel enhancer in intron 6 together with the enhancer in intron 1.
In contrast to previous studies using C2C the present study demonstrated that synovial levels of Coll2 (zeige SEMA3D Proteine)-1 were significantly elevated in tarsocrural joints affected with osteochondrosis
These results suggested that serum and synovial fluid (SF) collagen type II (CTX (zeige VSIG1 Proteine)-II) concentrations and SF:serum CTX (zeige VSIG1 Proteine)-II ratio may be used to detect cartilage degradation in horses with joint injury.
These results suggest that PEP-1-SIRT2 (zeige SIRT2 Proteine) promotes matrix metalloproteinases-induced dedifferentiation via ERK (zeige MAPK1 Proteine) signaling in articular chondrocytes.
Collagen type II serum levels, along with COMP (zeige COMP Proteine) levels, were effective for early osteoarthritis diagnosis in an animal model.
The expression of II type collagen and MMP-7 (zeige MMP7 Proteine) is correlated to a retrogression of acetabular cartilage and increases obviously in early developmental dysplasia. [MMP7 (zeige MMP7 Proteine)]
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 (zeige TECTB Proteine) 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 (zeige RSPO2 Proteine) activates Wnt (zeige WNT2 Proteine)/beta-catenin (zeige CTNNB1 Proteine) signaling to reduce Col2a1 and Sox9 (zeige SOX9 Proteine) 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 (zeige MMP2 Proteine)/13 expression.
The increased expressions of the cartilage-associated proteins Collagen2 and alpha-SMA (zeige SMN1 Proteine) 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 (zeige RPS19 Proteine) mice and C57BL/6 mice.
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.
a first example of a dominant COL2A1 splice site variant as candidate causal mutation of a severe lethal chondrodysplasia (zeige COL11A1 Proteine) phenotype
Denaturation of the chimeric collagen increased its affinity for fibronectin (zeige FN1 Proteine), as seen for mammalian collagens.
Data show that expression of mRNAs for aggrecan (zeige ACAN Proteine), collagen type II, and versican (zeige Vcan Proteine) were significantly effected by the intervention.
Data show that biglycan (zeige BGN Proteine), collagen type I, collagen type II, decorin (zeige DCN Proteine), and versican (zeige Vcan Proteine) 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 (zeige ACAN Proteine) 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 (zeige IGF1 Proteine) 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