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ACAN mutation is a relative common cause of familial severe short stature
Chondrogenic potential was higher and Wnt/beta-catenin signaling was more potently activated by a GSK-3beta inhibitor in the posterior than in the anterior part of the human infant sclera.
single nucleotide variants of ACAN and their haplotypes are associated with the severity of lumbar disc herniation.
Four of 29 small for gestational age children with advanced bone age had an ACAN gene mutation (13.8%). Mutations were related to additional characteristics: midface hypoplasia, joint problems, and broad great toes.
SNVs of candidate genes in ACAN metabolic pathway are associated with severity of Lumbar disc degeneration and Modic changes in patients with chronic mechanical low back pain.
Heterozygous aggrecan mutations result in a phenotypic spectrum ranging from mild and proportionate short stature to a mild skeletal dysplasia with disproportionate short stature and brachydactyly.
deacetylation promotes SOX9 (显示 SOX9 蛋白) nuclear translocation and hence its ability to activate ACAN.
Femoral and tibial cartilage show a different behaviour concerning expression values for the genes Col1A1 (显示 COL1A1 蛋白), Col2A1 (显示 COL2A1 蛋白) and Agg.
The genotype and allele frequencies of the COL2A1 (显示 COL2A1 蛋白) genetic polymorphisms (rs1793953 and rs2276454) and the Aggrecan VNTR polymorphisms differed significantly between the case group and the control group.the genotype and allele frequencies of the COL2A1 (显示 COL2A1 蛋白) genes, rs1793953 and rs2276454, and Aggrecan VNTR significantly differed in terms of Pfirrmann grades III, IV, and V
Decrease in mRNA expression of ACAN is associated with Osteoarthritis.
As the primary site of agc1-deficiency is neuronal, this explains the lack of accumulation of brain lactate in agc1-deficiency in humans and mice.
Aggrecan has a major role in regulating the expression of key growth factors and signaling molecules during development of cartilaginous tissue and is essential for proper chondrocyte organization, morphology, and survival.
Aggrecan, link protein (显示 HAPLN1 蛋白) and TN-R (显示 TNR 蛋白) were identified to be essential for the neuroprotective properties of the perineuronal net.
the subsequent presentation of aggregan from ECM (显示 MMRN1 蛋白) leads to CD4 (显示 CD4 蛋白)(+) T-cell activation and effector cell formation.
Runx3 (显示 RUNX3 蛋白) positively regulates aggrecan expression and suggest that its function is more limited to cartilage development than to bone.
The role of ADAMTS5 (显示 ADAMTS5 蛋白) in tendon is to remove pericellular and interfibrillar aggrecan to maintain the molecular architecture responsible for normal tissue function.
role of ADAMTS5 (显示 ADAMTS5 蛋白) in dermal repair through CD44 (显示 CD44 蛋白)-mediated aggrecan accumulation and modulation of transforming growth factor beta1 (TGFbeta1 (显示 TGFB1 蛋白)) signaling
CSGalNAcT-1 (显示 CSGALNACT1 蛋白) is necessary for normal levels of endochondral ossification, and the decrease in CS amount in the growth plate by its absence causes a rapid catabolism of aggrecan.
Data show that strong aggrecan gene expression was observed in growth plate and articular cartilage as well as the fibrocartilage of meniscus, trachea, and intervertebral disc.
A remote upstream element regulates tissue-specific expression of the rat aggrecan gene
Data show that expression of mRNAs for aggrecan, collagen type II, and versican (显示 Vcan 蛋白) were significantly effected by the intervention.
The delayed activation of proMMPs and the relatively low cleavage efficiency of MMPs compared to ADAMTS5 (显示 ADAMTS5 蛋白) (aggrecanase (显示 ADAMTS4 蛋白)) explains the minor contribution of the MMP enzymes to aggrecan catabolism in vivo.
Self-adhesion between highly negatively charged aggrecan macromolecules extracted from bovine cartilage extracellular matrix, was investigated.
aggrecanase (显示 ADAMTS4 蛋白) activity (a) is responsible for early TNFalpha (显示 TNF 蛋白)-dependent aggrecan cleavage and GAG release in the meniscus and (b) might be involved in meniscal degeneration.
Maintenance of structure and organization of extracellular matrix comprising chondron and pericellular microenvironment of chondrocytes in articular cartilage is important for distribution of newly synthesized aggrecan monomers within tissue.
aggrecan plays a protective role in preventing degradation of collagen fibrils
Changes in aggrecan and type II collagen (显示 COL2A1 蛋白) promoter activity in transfected chondrocyte-laden cylindrical constructs were evaluated in response to a range of loading frequencies and durations.
AGC1 mRNA expression level was upregulated by multidirectional articular motion.
Homozygosity mapping in candidate regions in a small Dexter pedigree suggested aggrecan as the most likely candidate gene. Mutation screening revealed a 4-bp insertion in exon 11 (2266_2267insGGCA) and a second, rarer transition in exon 1 (-198C>T).
keratan sulphate in the interglobular domain of pig aggrecan has a microstructure that is distinct from keratan sulphate in the keratan sulphate-rich region
Aggrecan synthesis in intervertebral disc cells is stimulated by E-cadherin (显示 CDH1 蛋白).
he dwarf (显示 POU1F1 蛋白) Miniature Shetland pony had the homozygous mutant genotype C/C of the ACAN:g.94370258G>C variant and the normal parents were heterozygous G/C. An unaffected full sib and 3/5 unaffected half-sibs were heterozygous G/C for the ACAN:g.94370258G>C variant. In summary, we could demonstrate a dwarf (显示 POU1F1 蛋白) phenotype in a miniature pony breed perfectly associated with a missense mutation within the ACAN gene.
At 0.1 and 1 microM concentrations, LE135 weakly but significantly increased chondral morphology scores, compared to untreated controls. Lack of aggrecan expression and lack of increased CII:CI ratio, compared to controls, did not affect chondrogenesis.
degenerative suspensory ligament desmitis ligaments showed a 15-fold increase in aggrecan compared to normal
This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene.
aggrecan core protein
, cartilage-specific proteoglycan core protein
, chondroitin sulfate proteoglycan core protein 1
, large aggregating proteoglycan
, aggrecan 1
, aggrecan, structural proteoglycan of cartilage
, aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122)
, aggrecan epidermal growth factor-like domain-1
, chondroitin sulfate proteoglycan core protein
, cartilage aggregating proteoglycan
, chondroitin sulfate proteoglycan 1
, large aggregating proteoglycan, antigen
, aggrecan core protein-like
, aggrecan interglobular domain