Property Summary

NCBI Gene PubMed Count 281
PubMed Score 689.33
PubTator Score 619.52

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Cataract 104 0.0 4.0

Expression

  Differential Expression (11)

Disease log2 FC p
posterior fossa group A ependymoma 1.800 2.5e-03
glioblastoma 1.300 1.9e-02
group 3 medulloblastoma 2.900 1.2e-04
atypical teratoid / rhabdoid tumor 2.900 2.2e-03
medulloblastoma, large-cell 2.200 1.3e-03
primitive neuroectodermal tumor 2.700 3.9e-02
lung cancer 1.300 6.9e-03
adult high grade glioma 1.700 8.9e-03
pilocytic astrocytoma 1.600 2.1e-04
gastric carcinoma -4.200 8.9e-03
pituitary cancer 2.400 3.9e-06

 CSPA Cell Line (3)

Gene RIF (167)

PMID Text
27109135 Serum CTX-II levels in human brucellosis were higher than those of healthy controls but serum CTX-II levels in male patients were significantly higher than those of female patients indicating biological changes in cartilage and bone in human brucellosis.
26586363 Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia
26545783 Identified is a novel Col2a1 mutant mouse possessing a p.Tyr1391Ser missense mutation. Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in this line.
26345137 Constitutive mutation in COL2A1 gene is associated with Kniest dysplasia and chondrosarcoma.
26311224 estimated median of 95 months as compared to an estimated median of 16 months for subjects expressing other levels of COL2A1 and SLC6A10P
26250472 Dysspondyloenchondromatosis is associated with COL2A1 mutation.
26183434 Results identified a novel COL2A1 variant (c.619G>A, p.Gly207Arg) causing a distinct type II collagenopathy with features of progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
26037341 A novel missense mutation (c.905C>T, p.Ala302Val)found in the coding region of the COL2A1 gene is associated Kniest dysplasia.
26030151 a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene; genotype-phenotype relationship between mutations and clinical findings of Spondyloepiphyseal dysplasia congenita
25967556 c.2224G>A (p.Gly687Ser) is a novel mutation of COL2A1 associated with spondyloepiphyseal dysplasia congenital.
25900302 A unique case of spondyloepiphyseal dysplasia congenita with mild coxa vara caused by double de novo COL2A1 mutations (p.G504S, p.G612A) located on the same allele.
25863096 A novel missense mutation of c.2224G>A (p.Gly687Ser) in the COL2A1 gene is associated with a Chinese family with spondyloepiphyseal dysplasia congenita.
25818544 miR-93 contributed to abnormal nucleus pulposus cell type II collagen expression by targeting MMP3, involved in intervertebral disc degeneration.
25735649 Six new unrelated patients with R989C mutation in COL2A1 gene associated with a severe phenotype of spondyloepiphyseal dysplasia congenita.
25521223 This study demonstrated that Genes overexpressed in Pilomyxoid Astrocytoma vs. Pilocytic Astrocytoma, ranked according to fold-change, included developmental genes H19, DACT2,COL2A1; COL1A1 and IMP3.
25436060 results suggest that COL2A1 is associated with the risk of degenerative lumbar scoliosis in Korean population
25124518 Mutations in the gene encoding the type II collagen gene (COL2A1) cause a series of type II collagenopathies that manifest as inheritable skeletal disorders.
25050885 A mutation in the COL2A1 gene is the causative agent of ONFH in this family.
25024164 somatic alterations of the COL2A1 were found in 19.3% of chondrosarcoma and 31.7% of enchondroma cases.
25008205 The study shows that approximately 45% of the collagen IIA synthesis as assessed by the collagen IIA N-terminal propeptide in serum is attributable to genetic effectors while individual and shared environment account for 24% and 31% respectively.
24971869 In middle-aged women without clinical knee disease, higher uCTX-II levels were associated with early detrimental structural changes at the knee (cartilage defects, tibial bone expansion and bone marrow lesions) at baseline but not over 2 years.
24949742 new variants to the repertoire of COL2A1 mutation resulting in related collagenopathies
24736929 This is the first familial report of G546S mutation in the COL2A1 gene that results in spondyloepiphyseal dysplasia congenita.
24728947 urine C2C and trace element level in patients with knee osteoarthritis
24641900 acetaldehyde up-regulates COL1A2 by modulating the role of Ski and the expression of SMADs 3, 4, and 7.
24386886 association between polymorphism in COL2A1 gene and MP was observed. results suggested COL2A1 gene could be a new susceptibility gene for use in the study of genetic risk factors for MP.
24375478 Denaturation of the chimeric collagen increased its affinity for fibronectin, as seen for mammalian collagens.
24164447 Data from model complexes of MMP-2 (matrix metalloproteinase-2) and triple-helix peptide fragments of COL2A1 suggest that the triple helix is distorted to allow the accommodation of an individual peptide chain within the MMP active site.
24164106 Genetic analyses showed that both sisters and their mother carried the same mutation in the COL2A1 gene.
24088220 The objective of this study was to determine the concentrations of types I, II and III collagen in six distinct regions of the supraspinatus tendon.
24014797 We report 2 generations of 4 male family members with Legg-Calve-Perthes disease-like features and mutation of the COL2A1 gene of the 12q13 chromosome.
23932928 In this family spondyloepiphyseal dysplasia congenita was caused by one novel missense mutation of c.3257G>T at exon 46 of COL2A1 gene resulting in substitution of glycine (Gly, G) to valine (Val, V) at the 1086 codon (p.Gly1086Val.
23928235 COL2A1 mutation R275C regularly leads to symmetric spondyloarthropathy,symptoms gradually developing during puberty.
23918474 A report on a familial apparently balanced reciprocal translocation t(12;15)(q13;q22.2) which disrupts COL2A1 and causes type 1 Stickler syndrome, in a mother and two of her children.
23882137 Trypsin-1 and trypsin-2 appear to have a function in the degradation of vitreous type II collagen.
23873758 study indicates that Set7/9 prevents the histone deacetylase activity of SirT1, potentiating euchromatin formation on the promoter site of COL2A1 and resulting in morphology-dependent COL2A1 gene transactivation.
23851124 Chondrocalcin is internalized by chondrocytes and triggers cartilage destruction via an interleukin-1beta-dependent pathway.
23770606 We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases.
23631855 Tensile strain increases expression of CCN2 and COL2A1 by activating TGF-beta-Smad2/3 pathway in chondrocytic cells.
23618358 NF-kappaB/p65 signaling, as well as Sox9, may contribute to changes in the morphology of uterine carcinosarcomas cells toward the chondrocytic phenotype through modulation of COL2A1 transcription.
23592912 A three-generation Caucasian family variably diagnosed with Stickler and Wagner syndrome was screened for sequence variants in the COL2A1 and VCAN genes.
23546968 Data indicate that after rhBMP-2 treatment, mRNA expression of type I and II collagens increased significantly more in cervical than in lumbar nucleus pulposus (NP) cells.
23545312 we identified a novel truncating mutation (p.Lys1444AsnfsX27) in the C-propeptide of type II collagen COL2A1 in an affected Chinese individual with SPD.
23370687 Data indicate link protein peptide (LPP) upregulates expression of aggrecan and collagen II at both mRNA and protein levels.
23331625 AP-2epsilon indirectly interacts with the core promoter of COL2A1 and subsequently inhibits its transcriptional activity, thus modulating cartilage development.
23116329 Data indicate T cell specificity antibody to the CII259-273 T cell epitope in B10.DR4.Ncf1*/* mice following immunization with human collagen type II (CII).
23079993 Extension of the mutation spectrum of spondyloepiphyseal dysplasia (SED) and confirmation of a relationship between mutations in the COL2A1 gene and clinical findings of SED.
22965811 Systemic or local down-regulation of miR-7 may contribute to the pathogenesis of localized scleroderma via the overexpression of alpha2(I) collagen.
22863613 Urinary CTX-II concentrations are elevated and associated with knee pain and function in subjects with anterior cruciate ligament reconstruction.
22791362 A growth chart was constructed for patients with molecularly confirmed congenital spondylo-epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias.
22750747 Intra-articular injection of human mesenchymal stem cells (MSCs) promote rat meniscal regeneration by being activated to express Indian hedgehog that enhances expression of type II collagen.
22711552 study reports on a severe form of skeletal dysplasia in 2 sibs whose phenotype was most consistent with platyspondylic lethal skeletal dysplasia Torrance type; they had an identical heterozygous missense mutation in the triple helical region of COL2A1 c.3545G>A (p.Gly1182Asp)in exon 50
22689318 CTX-II has unique relations with bone markers as compared to other cartilage markers and might reflect bone rather than cartilage metabolism
22574936 Genetic analysis revealed that all affected family members of one pedigree carried an exon 2 mutation of COL2A1, and in the second pedigree, all affected members carried an FZD4 mutation.
22496037 describe five further examples of somatic mosaicism of COL2A1 mutations illustrating the importance of detailed clinical evaluation and molecular testing even in clinically normal parents of affected individuals
22495950 A novel in-frame deletion c.4458_4460delCTT (p.Phe1486del) in the C-propeptide region of COL2A1 was found in both mother and fetus with spondyloperipheral dysplasia.
22319617 Neo-antigenic epitopes were generated on (*)OH modified CII which rendered it highly immunogenic and arthritogenic as compared to the unmodified form.
22241609 Increased expression of collagen II, aggrecan, and cartilage oligomeric matrix protein (COMP), were observed during differentiation of induced pluripotent stem cells from osteoarthritic chondrocytes.
22189268 variants detected in either COL2A1 in patients with Stickler syndrome
22068351 serum levels of collagen type 2 in Kashin-Beck disease were increased compared with healthy controls and osteoarthritis patients, but the increase was not correlated with disease severity.
22049074 RB1CC1 protein suppresses type II collagen synthesis in chondrocytes and causes dwarfism
21993774 The rs1635529 polymorphism was no statistically significant difference in genotype, allele and haplotype frequencies for the other three SNPs between the high myopia group and the control group.
21940677 A transgenic mouse model represents the first possibility to study B cell tolerance to endogenous matrix protein collagen II antigen.
21924244 this study extends the mutation spectrum of spondyloepiphyseal dysplasia congenita (SEDC) in COL2A1 and is helpful in early molecular diagnoses of SEDC.
21853455 In inner meniscus cells, mechanical stretch may have an essential role in the epigenetic regulation of COL2A1 expression.
21853276 nicotine has the same effect on both chondrocytes, obtained either from osteoarthritis patients or from normal human, and the positive effect of smoking in OA may relate to the alteration in metabolism of chondrocytes.
21843649 COMP and Col2a1 expression are regulated differently during chondrogenesis. COMP is a primary response gene of TGFbeta and its fast induction during chondrogenesis suggests that COMP is suitable for rapidly accessing the chondrogenic potential of stem cells
21777803 We present a case in which a Pierre Robin sequence and a positive family history led to the clinical diagnosis of Stickler syndrome, which was confirmed by the identification of a disease-causing novel deletion of 2 nucleotides in the COL2A1 gene.
21655647 This study tests the hypothesis that disease severity is characterized by alterations in expression of cartilage-specific genes for aggrecan and collagen type II.
21442341 children who present with bilateral Perthes-like disease of the hip might have an underlying mutation in the gene encoding type II collagen.
21332586 COL2A1 mutations give rise to a spectrum of phenotypes predominantly affecting cartilage and bone from the severe disorders that are perinatally lethal to the milder conditions that are recognised in the post-natal period and childhood. [review]
21221577 The results suggest that uCTX-I, uCTX-II and sCOMP could identify patients with focal cartilage lesions from an early stage of osteoarthritis of the knee.
21204228 Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
21088911 The G4006A AA homozygous genotype significantly increased in female Chinese knee osteoarthritis patients.
21088911 Observational study of gene-disease association. (HuGE Navigator)
21044884 identification of the GVMGFO discoidin domain receptor binding motif on collagen II
20672350 implication of IRF6, COL2A1, and WNT3 in occurrence of nonsyndromic cleft palate (NSCP); likely variation in cartilage collagen II and XI genes, IRF6, and Wnt and FGF signal pathway genes contributes susceptibility to NSCP in Northeast Europe populations
20672350 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20592578 Data show that an increase in collagen-II, aggrecan, and Sox-9 protein expression in NP and AF regions of the disc was detected in the exercised rats.
20569194 The effect of parathyroid hormone on expression of COL10 and COL2 in mesenchymal stem cells from osteoarthritic patients and analyzed the potential mechanisms related to its effect, was investigated.
20529846 Type II collagen expression is regulated by tissue-specific miR-675 in human articular chondrocytes
20204389 Our study demonstrated that the p.Gly1170Ser mutation of COL2A1 caused significant structural alterations in articular cartilage, which are responsible for the new type II collagenopathy.
20179744 study was to define more precisely phenotype and genotype of Stickler syndrome type 1 by investigating patients with Col2A1 heterozygous mutation; study confirms Stickler syndrome type 1 is predominantly caused by loss-of-function mutations in COL2A1
20131279 mutations in COL2A1 can present as degenerative joint disease in the absence of any other phenotypic clues
19913121 Observational study of gene-disease association. (HuGE Navigator)
19814628 In rheumatoid arthritis at different stages and healthy individuals, procollagen IIA N-peptide (PIIANP) levels in serum exhibited no circadian rhythmicity, and PIIANP in serum was not influenced by physical activity
19790048 Hypoxia not only induces type II collagen and aggrecan, but it also inhibits type I and type III collagen in the hypoxia-inducible factor 1alpha-dependent redifferentiation of chondrocytes.
19764028 Mutation analysis documented the COL2A1 c.823C > T mutation in all Czech dysplasia affected individuals.
19756630 An association of a COL2A1 gene polymorphism with advanced stages of osteoarthritis of the knee is evaluated in Mexican Mestizo population.
19756630 Observational study of gene-disease association. (HuGE Navigator)
19473573 declining N-propeptide of collagen IIA (PIIANP) and increasing collagen II C-telopeptide (CTX-II) in early and longstanding rheumatoid arthritis demonstrate unbalanced anabolic and degradative pathways
19433093 The molecular mechanism of spondyloepiphyseal dysplasia may be driven not only by structural changes in the architecture of extracellular collagenous matrices, but also by intracellular processes activated by the presence of mutant collagen II molecules.
19430638 Observational study of gene-disease association. (HuGE Navigator)
19387081 The COL2A1 gene was associated with high-grade myopia in two independent Caucasian family datasets. COL1A1 gene polymorphisms were not associated with myopia
19387081 Observational study of gene-disease association. (HuGE Navigator)
19180518 Observational study of gene-disease association. (HuGE Navigator)
19019890 results suggest that the studied COL2A1 gene polymorphisms may play a role in the aetiology of hand osteoarthritis and that this effect may be enhanced by repetitive loading work tasks.
19019890 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18978274 Observational study of gene-disease association. (HuGE Navigator)
18799084 Type II collagen levels were lower in osteoarthritis than in Rheumatoid arthritis cartilage
18655132 collagen II induces first MMPs and pro-inflammatory cytokines and then release of collagen II fragments from mature collagen II fibers
18636947 Articular chondrocytes maintained a rounded shape and proliferated rapidly showed a reduced, but persistent, production of COL2A1 mRNA.
18553548 Report on a large family with 11 patients with typical Czech dysplasia and sensorineural hearing loss. Mutation analysis documented the COL2A1 c.823C > T (R275C) mutation in all affected individuals.
18523590 associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite
18523590 Observational study of gene-disease association. (HuGE Navigator)
18512791 in a family study A p.Gly1170Ser mutation of COL2A1 cosegregated with hip osteoarthritis, avascular necrosis of the femoral head, and Legg-Calve-Perthes,and was absent in controls
18383211 Results provide a new insight into the molecular mechanisms of pathological changes caused by mutations in COL2A1 and identify apoptosis as an element of a cellular response to the presence of altered type II collagen mutant molecules.
18288556 Observed no evidence of linkage between COL2A1 locus and developmental dysplasia of the hip.
18276201 One novel DNA variation (c.1266+7G>C) in the COL2A1 gene occurs near a splice site and it was observed to co-segregate with the phenotype in one of the two families with this DNA variation
18177466 Sequence analysis revealed in the three patients a novel COL2A1 mutation (c.1468_1475delinsT) that accounted for a STL syndrome type I phenotype. One patient carries an EYA1 mutation, p.R328X, which was not present in the two other patients.
18065760 Interleukin-6 (IL-6) and/or soluble IL-6 receptor down-regulation of human type II collagen gene expression in articular chondrocytes requires a decrease of Sp1.Sp3 ratio and of the binding activity of both factors to the COL2A1 promoter
18040638 mRNAs for type II collagen and aggrecan were expressed by MSCs treated with either TGFbeta1 or OP-1; however, substantial matrix production was not induced.
18023161 COL2A1 mRNA abundance and other aspects of chondrocyte differentiation may be regulated by the use of previously undetermined alternative splice sites
17994563 Molecular analysis of genomic DNA extracted from amniotic cells of the second and third fetuses revealed heterozygosity for a 10370G > T missense mutation (G346V) in the COL2A1 gene in achondrogenesis type II
17721977 Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome
17683641 Prostaglandin E2 at lower levels than in inflammation suppress collagenase-mediated COL2A1 cleavage in osteoarthritic cartilage.
17653045 Observational study of gene-disease association. (HuGE Navigator)
17653045 primary findings from the current study suggest involvement in common forms of myopia by COL2A1
17580305 dual role for TIA-1 in shuttling between DNA and RNA ligands to co-regulate COL2A1 expression at the level of transcription and pre-mRNA alternative splicing.
17568421 Human cells cultured over 5 days increased expression of aggrecan and collagen II in both nucleus and annulus cells under increasing osmolarity.
17509551 Familial mutation of G504S of collagen type II alpha (COL2A1) gene results in distinctive spondyloepiphyseal dysplasia congenita.
17437277 We present two missense mutations and one apparently silent mutation that each result in Stickler syndrome, but via different molecular mechanisms.
17394019 Study found a missense mutation (p.G1170S) in COL2A1 in a Japanese family with an autosomal dominant hip disorder manifesting as Legg-Calve-Perthes disease and showing considerable intra-familial phenotypic variation.
17335825 type II collagen expression was observed very focally within advanced atherosclerotic plaques in crural arteries
17217840 The expression of collagen type II and TGF-beta1, bFGF in adolescent idiopathic scoliosis was similar to congenital scoliosis.
17195216 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17163530 COL2A1 mutations associated with marked metaphyseal dysplasia with only mild epiphyseal and spondylar changes.
17009260 Premature induction of hypertrophy-related molecules (type X collagen and matrix metalloproteinase 13) occurred before production of type II collagen and was followed by up-regulation of alkaline phosphatase activity.
16978902 Observational study of genotype prevalence. (HuGE Navigator)
16877351 In comparison with healthy cartilage, Osteoarthritis articular chondrocytes exhibit increased in vivo synthesis of collagen prolyl-4-hydroxylase type II, a pivotal enzyme in collagen triple helix formation.
16650379 Mechanical compression increases the level of type II mRNA expression by transcriptional activation possibly through the Sp1 binding sites residing in the proximal region of the COL2A1 gene promoter.
16395149 An 8-year-old boy with type 1 Stickler syndrome showed a novel mutation in intron 11 of the COL2A1 gene
16329077 When modified by conditions found within the inflamed joint, CII acts as an autoantigen in rheumatoid arthritis
16192646 Trypsin degrades COL2A1 and is expressed and activated in mesenchymally transformed rheumatoid arthritis synovitis tissue.
16133074 Observational study of gene-disease association. (HuGE Navigator)
16076844 cis elements in the COL2A1 gene modulate the cell type-specific alternative splicing switch of exon 2 during cartilage development
16001263 Data demonstrate a significant reduction of collagens I, II and aggrecan mRNA after the initiation of culture compared with mRNA levels in fresh tissue.
15930420 In families with avascular necrosis of the femoral head, haplotype and sequence analysis of the COL2A1 gene can be used to identify carriers of the mutant allele before the onset of clinical symptoms
15922184 Observational study of gene-disease association. (HuGE Navigator)
15895462 identification of COL2A1 mutations in 56 families that were suspected of having type II collagenopathies, and 38 mutations in 41 families were found
15731776 The presence of type II collagen in the extracellular tumor matrix significantly facilitates the diagnosis of mesenchymal chondrosarcomas in the absence of histologically visible chondroid matrix formation.
15671297 Mutations outside the alternatively spliced exon 2 region of COL2A1 can also result in an ocular only phenotype. There was no evidence that missplicing modifies the phenotype of these mutations
15522781 single amino acid substitution positions in the collagen triple helix determine their effect on structure of collagen fibrils
15466413 a prototypical chordin-like cysteine-rich repeat (von Willebrand Factor type C module) from collagen IIA may be evolutionarily conserved
15102076 BMP2 or 4 in pilomatricoma is responsible for induction of proalpha(1)(II) collagen mRNA in overlying epidermal cells resulting in deposition of type II collagen in dermo-epidermal junction
15082485 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
14729840 A missense mutation in a lethal type case and a 4-base pair deletion in a non-lethal case in COL2A1 of platyspondylic skeletal dysplasia, Torrance type patients.
14644246 Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation.
12935820 SOX9 is not the key regulator of COL2A1 promoter activity in human adult articular chondrocytes
12732631 In promoter assays, CBP/p300 enhances Col2a1, which encodes cartilage-specific type II collagen gene promoter activity via Sox9.
12713737 SOX9 exerts a bifunctional effect on COL2A1 gene expression in chondrocytes depending on the differentiation state.
12637574 Egr-1 represses COL2A1 by preventing interactions between Sp1 and the general transcriptional machinery
12544472 Mutations of Col2a1 result in Stickler syndrome.
12511349 Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
12429250 A variant of Stickler syndrome, caused by mutations in exon 2 of COL2A1, may present in families
12429249 Linkage of stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.
12360016 Observational study of gene-disease association. (HuGE Navigator)
12223098 identification of TATA-containing core promoter as target of interferon-gamma-mediated inhibition in human chondrocytes
12200454 Upstream elements present in the 3'-untranslated region of the gene influence the processing efficiency of overlapping polyadenylation signals.
12186868 TGF-beta1 inhibition of COL2A1 gene transcription in articular chondrocytes is mediated by an increase of the Sp3/Sp1 ratio and by the repression of Sp1 transactivating effects on that gene
12096843 Observational study of gene-disease association. (HuGE Navigator)
11716775 COL2A1 gene expression in differentiating chondrocytes can be modulated by culture conditions so that its transcriptional activity is repressed in monolayer cultures and rescued to some extent when the cells are switched to polyHEMA substrata.
11708863 This form of premature osteoarthritis may present in childhood and should be considered in the differential diagnosis of childhood arthropathy presenting in the context of a positive family history.
11447232 Sp3 represses the Sp1-mediated transactivation of the human COL2A1 gene in primary and de-differentiated chondrocytes
10729292 The first paper to show that mutations in exon 2 result in a predominantly ocular form of Stickler syndrome

AA Sequence

MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTGTVLCDDIICE      1 - 70
DVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDK     71 - 140
GEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRG    141 - 210
PPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGT    211 - 280
PGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQP    281 - 350
GPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG    351 - 420
SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGK    421 - 490
RGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGAR    491 - 560
GLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPGAPGLRG    561 - 630
LPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGE    631 - 700
RGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDV    701 - 770
GEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPG    771 - 840
ADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGS    841 - 910
NGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQR    911 - 980
GIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDG    981 - 1050
AAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGE   1051 - 1120
AGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPR   1121 - 1190
GRSGETGPAGPPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLK   1191 - 1260
SLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPAN   1261 - 1330
VPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYL   1331 - 1400
DEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVIEYRSQKTSRLPIIDIAPMDI   1401 - 1470
GGPEQEFGVDIGPVCFL                                                        1471 - 1487
//

Text Mined References (285)

PMID Year Title
27109135 2016 A Primary Investigation on Serum CTX-II Changes in Patients Infected with Brucellosis in Qinghai Plateau, China.
26586363 2016 Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.
26545783 2015 Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.
26311224 2016 Expression profile of COL2A1 and the pseudogene SLC6A10P predicts tumor recurrence in high-grade serous ovarian cancer.
26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
26183434 2015 Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
26037341 2015 [Kniest dysplasia due to mutation of COL2A1 gene].
26030151 2015 Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
25967556 2015 Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
25900302 2015 Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.
25863096 2015 [Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].
25818544 2015 MicroRNA-93 regulates collagen loss by targeting MMP3 in human nucleus pulposus cells.
25735649 2015 Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.
25521223 2015 Pilomyxoid Astrocytoma (PMA) Shows Significant Differences in Gene Expression vs. Pilocytic Astrocytoma (PA) and Variable Tendency Toward Maturation to PA.
25436060 2014 Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis.
25124518 2014 Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report.
25050885 2014 A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis.
25024164 2014 Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma.
25008205 2014 Heritability assessment of cartilage metabolism. A twin study on circulating procollagen IIA N-terminal propeptide (PIIANP).
24971869 2014 Association between urinary C-telopeptide fragments of type II collagen and knee structure in middle-aged women without clinical knee disease.
24949742 2014 A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.
24736929 2014 A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family.
24728947 2014 Detection of urine C2C and trace element level in patients with knee osteoarthritis.
24641900 2014 Mechanisms of action of acetaldehyde in the up-regulation of the human ?2(I) collagen gene in hepatic stellate cells: key roles of Ski, SMAD3, SMAD4, and SMAD7.
24386886 2014 Analysis of the association of COL2A1 and IGF-1 with mandibular prognathism in a Chinese population.
24375478 2014 Definition of the native and denatured type II collagen binding site for fibronectin using a recombinant collagen system.
24164447 2013 Unraveling the molecular structure of the catalytic domain of matrix metalloproteinase-2 in complex with a triple-helical peptide by means of molecular dynamics simulations.
24164106 2014 Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.
24088220 2013 Distributions of types I, II and III collagen by region in the human supraspinatus tendon.
24014797 2013 Legg-Calve-Perthes disease in two generations of male family members: a case report.
23932928 2014 A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.
23928235 2014 COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child.
23918474 2013 COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
23882137 2013 Trypsin-mediated enzymatic degradation of type II collagen in the human vitreous.
23873758 2014 Set7/9 impacts COL2A1 expression through binding and repression of SirT1 histone deacetylation.
23851124 Chondrocalcin is internalized by chondrocytes and triggers cartilage destruction via an interleukin-1?-dependent pathway.
23770606 2013 Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
23658023 2013 Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance.
23631855 2013 Tensile strain increases expression of CCN2 and COL2A1 by activating TGF-?-Smad2/3 pathway in chondrocytic cells.
23618358 2013 Transcriptional regulation of the alpha-1 type II collagen gene by nuclear factor B/p65 and Sox9 in the chondrocytic phenotype of uterine carcinosarcomas.
23592912 2013 Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
23546968 2013 Molecular response of human cervical and lumbar nucleus pulposus cells from degenerated discs following cytokine treatment.
23545312 2013 Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia.
23370687 2013 ISSLS Prize winner: Effect of link protein peptide on human intervertebral disc cells.
23331625 2013 The transcription factor activating enhancer-binding protein epsilon (AP-2?) regulates the core promoter of type II collagen (COL2A1).
23116329 2012 Comparative analysis of collagen type II-specific immune responses during development of collagen-induced arthritis in two B10 mouse strains.
23079993 2012 Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.
22965811 2013 microRNA-7 down-regulation mediates excessive collagen expression in localized scleroderma.
22863613 2012 Urinary CTX-II concentrations are elevated and associated with knee pain and function in subjects with ACL reconstruction.
22791362 2012 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
22750747 2012 Intra-articular injection of human mesenchymal stem cells (MSCs) promote rat meniscal regeneration by being activated to express Indian hedgehog that enhances expression of type II collagen.
22711552 2012 Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.
22689318 2013 Associations of CTX-II with biochemical markers of bone turnover raise questions on its tissue origin: data from CHECK, a cohort study of early osteoarthritis.
22574936 2012 Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
22496037 2012 Somatic mosaicism and the phenotypic expression of COL2A1 mutations.
22495950 2012 Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.
22319617 2012 Hydroxyl radical modification of collagen type II increases its arthritogenicity and immunogenicity.
22241609 2012 Chondrogenic differentiation of induced pluripotent stem cells from osteoarthritic chondrocytes in alginate matrix.
22189268 2012 Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
22068351 2012 Serum levels of TNF-?, IL-1?, COMP, and CTX-II in patients with Kashin-Beck disease in Sichuan, China.
22049074 2011 RB1CC1 protein suppresses type II collagen synthesis in chondrocytes and causes dwarfism.
21993774 2012 High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population.
21940677 2011 Pathogenic autoreactive B cells are not negatively selected toward matrix protein collagen II.
21924244 2011 Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
21922596 2012 Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
21853455 2012 Mechanical stretch enhances COL2A1 expression on chromatin by inducing SOX9 nuclear translocalization in inner meniscus cells.
21853276 2012 Nicotine promotes proliferation and collagen synthesis of chondrocytes isolated from normal human and osteoarthritis patients.
21843649 2011 Comparative analysis with collagen type II distinguishes cartilage oligomeric matrix protein as a primary TGF?-responsive gene.
21777803 2011 Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.
21671384 2011 Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.
21655647 2011 Alterations in expression of cartilage-specific genes for aggrecan and collagen type II in osteoarthritis.
21442341 2011 Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.
21332586 2012 Clinical phenotypes associated with type II collagen mutations.
21221577 2011 Biochemical markers in the diagnosis of chondral defects following anterior cruciate ligament insufficiency.
21204228 2011 Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
21088911 2011 Relationships between COL2A1 gene polymorphisms and knee osteoarthritis in Han Chinese women.
21044884 2011 Collagen binding specificity of the discoidin domain receptors: binding sites on collagens II and III and molecular determinants for collagen IV recognition by DDR1.
20672350 2010 Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20592578 2010 The effect of running exercise on intervertebral disc extracellular matrix production in a rat model.
20569194 2010 Effect of parathyroid hormone on type X and type II collagen expression in mesenchymal stem cells from osteoarthritic patients.
20529846 2010 Type II collagen expression is regulated by tissue-specific miR-675 in human articular chondrocytes.
20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
20204389 2010 A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy.
20179744 2010 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
20131279 2010 Premature arthritis is a distinct type II collagen phenotype.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19814628 2010 Circadian pattern and the effect of standardized physical exercise on procollagen IIA N-peptide (PIIANP) in rheumatoid arthritis at different stages and in healthy individuals.
19790048 2009 Hypoxia-inducible factor 1alpha inhibits the fibroblast-like markers type I and type III collagen during hypoxia-induced chondrocyte redifferentiation: hypoxia not only induces type II collagen and aggrecan, but it also inhibits type I and type III collagen in the hypoxia-inducible factor 1alpha-dependent redifferentiation of chondrocytes.
19764028 2009 Czech dysplasia occurring in a Japanese family.
19756630 2010 A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population.
19473573 Differential association of the N-propeptide of collagen IIA (PIIANP) and collagen II C-telopeptide (CTX-II) with synovitis and erosions in early and longstanding rheumatoid arthritis.
19433093 2009 R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response.
19430638 2009 Host genetic and epigenetic factors in toxoplasmosis.
19387081 2009 COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.
19180518 2009 Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
19019890 2009 COL2A1 gene polymorphisms and susceptibility to osteoarthritis of the hand in Finnish women.
18978274 2008 Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia.
18799084 Osteoarthritis and rheumatoid arthritis pannus have similar qualitative metabolic characteristics and pro-inflammatory cytokine response.
18655132 2009 A critical role for collagen II in cartilage matrix degradation: collagen II induces pro-inflammatory cytokines and MMPs in primary human chondrocytes.
18636947 2008 Persistence of collagen type II synthesis and secretion in rapidly proliferating human articular chondrocytes in vitro.
18553548 2008 Czech dysplasia: report of a large family and further delineation of the phenotype.
18523590 2008 Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.
18512791 2008 Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.
18383211 2008 Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis.
18288556 2008 Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes.
18276201 Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
18272325 2008 Natural variation in four human collagen genes across an ethnically diverse population.
18177466 2008 Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
18065760 2008 Interleukin-6 (IL-6) and/or soluble IL-6 receptor down-regulation of human type II collagen gene expression in articular chondrocytes requires a decrease of Sp1.Sp3 ratio and of the binding activity of both factors to the COL2A1 promoter.
18040638 2007 Osteogenic protein-1 with transforming growth factor-beta1: potent inducer of chondrogenesis of synovial mesenchymal stem cells in vitro.
18023161 2008 Expression of two novel alternatively spliced COL2A1 isoforms during chondrocyte differentiation.
17994563 2007 A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
17721977 2008 Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
17683641 2007 Prostaglandin PGE2 at very low concentrations suppresses collagen cleavage in cultured human osteoarthritic articular cartilage: this involves a decrease in expression of proinflammatory genes, collagenases and COL10A1, a gene linked to chondrocyte hypertrophy.
17653045 2007 Candidate gene and locus analysis of myopia.
17580305 2007 Nuclear protein TIA-1 regulates COL2A1 alternative splicing and interacts with precursor mRNA and genomic DNA.
17568421 2007 Influence of extracellular osmolarity and mechanical stimulation on gene expression of intervertebral disc cells.
17509551 2007 A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.
17437277 2007 Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
17394019 2007 A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.
17335825 2008 Expression of cartilage-specific markers in calcified and non-calcified atherosclerotic lesions.
17217840 2006 [Distribution and expression of collagen type II, transforming growth factor beta1 and basic fibroblast growth factor in articular process cartilages of scoliosis].
17195216 2007 Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee.
17163530 2007 COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
17009260 2006 Premature induction of hypertrophy during in vitro chondrogenesis of human mesenchymal stem cells correlates with calcification and vascular invasion after ectopic transplantation in SCID mice.
16978902 2006 Population genetic data on D1S80, D17S5, ApoB, COL2A1 and Ig-JH in Northeastern Thais.
16877351 2006 Regulation of type II collagen synthesis during osteoarthritis by prolyl-4-hydroxylases: possible influence of low oxygen levels.
16752401 2006 High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
16650379 2006 Mechanical compressive loading stimulates the activity of proximal region of human COL2A1 gene promoter in transfected chondrocytes.
16541075 2006 The finished DNA sequence of human chromosome 12.
16395149 2006 A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome.
16329077 2005 Generation of neoantigenic epitopes after posttranslational modification of type II collagen by factors present within the inflamed joint.
16192646 2005 Trypsin-2 degrades human type II collagen and is expressed and activated in mesenchymally transformed rheumatoid arthritis synovitis tissue.
16133074 2006 Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.
16088915 2005 Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.
16076844 2005 Alternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5' splice site and an adjacent intronic stem-loop cis element.
16001263 2005 Quantitation of collagen I, collagen II and aggrecan mRNA and expression of the corresponding proteins in human nucleus pulposus cells in monolayer cultures.
15930420 2005 Type II collagen gene variants and inherited osteonecrosis of the femoral head.
15922184 2005 The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
15895462 2005 The phenotypic spectrum of COL2A1 mutations.
15731776 2005 Type II collagen as specific marker for mesenchymal chondrosarcomas compared to other small cell sarcomas of the skeleton.
15713743 2005 Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes.
15671297 2005 A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.
15643621 2005 Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
15522781 2004 Position of single amino acid substitutions in the collagen triple helix determines their effect on structure of collagen fibrils.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15466413 2004 Solution structure and dynamics of a prototypical chordin-like cysteine-rich repeat (von Willebrand Factor type C module) from collagen IIA.
15316962 2004 Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
15179599 2004 Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.
15102076 2004 Type II collagen accumulation in overlying dermo-epidermal junction of pilomatricoma is mediated by bone morphogenetic protein 2 and 4.
15082485 2004 Insulin-like growth factor I gene promoter polymorphism, collagen type II alpha1 (COL2A1) gene, and the prevalence of radiographic osteoarthritis: the Rotterdam Study.
15054848 2004 Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
14729840 2004 Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
14644246 2003 A case of Kniest dysplasia with retinal detachment and the mutation analysis.
14299791 1965 HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.
12939326 2003 Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.
12935820 2003 SOX9 expression does not correlate with type II collagen expression in adult articular chondrocytes.
12732631 2003 Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9.
12713737 2003 SOX9 exerts a bifunctional effect on type II collagen gene (COL2A1) expression in chondrocytes depending on the differentiation state.
12637574 2003 Egr-1 mediates transcriptional repression of COL2A1 promoter activity by interleukin-1beta.
12544472 The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
12511349 2003 Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12429250 2002 Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.
12429249 2002 Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.
12393877 2002 PCOLCE2 encodes a functional procollagen C-proteinase enhancer (PCPE2) that is a collagen-binding protein differing in distribution of expression and post-translational modification from the previously described PCPE1.
12360016 2002 Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia.
12223098 2003 The TATA-containing core promoter of the type II collagen gene (COL2A1) is the target of interferon-gamma-mediated inhibition in human chondrocytes: requirement for Stat1 alpha, Jak1 and Jak2.
12205109 2002 Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
12200454 2002 Upstream elements present in the 3'-untranslated region of collagen genes influence the processing efficiency of overlapping polyadenylation signals.
12186868 2002 Down-regulation of human type II collagen gene expression by transforming growth factor-beta 1 (TGF-beta 1) in articular chondrocytes involves SP3/SP1 ratio.
12096843 2002 Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population.
12011698 2002 Avascular necrosis of the femoral head after femoral neck fracture.
11973338 2002 The epithelial mitogen keratinocyte growth factor binds to collagens via the consensus sequence glycine-proline-hydroxyproline.
11847210 2002 The leucine-rich repeat protein PRELP binds perlecan and collagens and may function as a basement membrane anchor.
11812423 2002 A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.
11746045 2001 Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
11724554 2001 Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX.
11705992 2002 Processing of type II procollagen amino propeptide by matrix metalloproteinases.
11447232 2001 Sp3 represses the Sp1-mediated transactivation of the human COL2A1 gene in primary and de-differentiated chondrocytes.
11445564 2001 Association of chondroadherin with collagen type II.
11406351 2001 The polycystin-1 C-type lectin domain binds carbohydrate in a calcium-dependent manner, and interacts with extracellular matrix proteins in vitro.
11368302 2001 Ossification of tracheal cartilage in aged humans: a histological and immunohistochemical analysis.
11292829 2001 Molecular cloning and biological activity of a novel lysyl oxidase-related gene expressed in cartilage.
11007540 2000 Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.
10982970 2000 Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.
10797431 2000 Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
10772239 2000 Integrin expression by primary and immortalized human chondrocytes: evidence of a differential role for alpha1beta1 and alpha2beta1 integrins in mediating chondrocyte adhesion to types II and VI collagen.
10745044 2000 Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
10729292 2000 COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.
10706362 2000 Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.
10678662 2000 Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
10486316 1999 Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
10406661 1999 Small deletions in the type II collagen triple helix produce kniest dysplasia.
10382266 1999 Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth.
10196235 1999 Enhancement of cell adhesion and spreading by a cartilage-specific noncollagenous protein, cartilage matrix protein (CMP/Matrilin-1), via integrin alpha1beta1.
10085302 1999 Type IIA procollagen containing the cysteine-rich amino propeptide is deposited in the extracellular matrix of prechondrogenic tissue and binds to TGF-beta1 and BMP-2.
9811967 1999 Human collagen II peptide 256-271 preferentially binds to HLA-DR molecules associated with susceptibility to rheumatoid arthritis.
9800905 1998 Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.
9711874 1998 Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.
9685393 1998 Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen.
9659900 1997 An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors.
9468540 1998 Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
9409248 1997 In vitro interactions of oxidatively modified LDL with type I, II, III, IV, and V collagen, laminin, fibronectin, and poly-D-lysine.
9354468 1997 X-ray crystal structure of HLA-DR4 (DRA*0101, DRB1*0401) complexed with a peptide from human collagen II.
9334230 1997 Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen.
9101290 1997 Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.
9066888 1997 Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
9061001 1997 Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen.
8948452 1995 Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).
8900172 1996 Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB).
8863156 1996 The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
8778019 1996 The collagen-like component of the complement system, C1q, is recognized by 7 S autoantibodies and is functionally impaired in synovial fluids of patients with rheumatoid arthritis.
8737653 1996 A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
8723098 1996 An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
8723097 1996 A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
8723096 1996 Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).
8660302 1996 Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites.
8609233 1996 Cloning, expression, and type II collagenolytic activity of matrix metalloproteinase-13 from human osteoarthritic cartilage.
8529631 1995 Immunohistochemical and biochemical analyses of 20,000-25,000-year-old fossil cartilage.
8507190 1993 Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.
8486375 1993 A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
8423604 1993 The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
8406454 1993 A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.
8325895 1993 Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
8317498 1993 Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
8244341 1993 Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
8024616 1994 Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.
8019561 1994 A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.
7981752 1993 Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
7977371 1994 Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
7874117 1994 A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
7847372 1995 An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
7829510 1995 A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
7757086 1995 Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
7757081 1995 A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
7699294 1995 Analysis of a Hind III site polymorphism in the type II collagen gene: it's location and frequencies in the Japanese population.
7550321 1995 Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
7520045 1994 Conformation dependence of integrin-type II collagen binding. Inability of collagen peptides to support alpha 2 beta 1 binding, and mediation of adhesion to denatured collagen by a novel alpha 5 beta 1-fibronectin bridge.
7487609 1995 Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene.
6320112 1984 Isolation and characterization of genomic clones corresponding to the human type II procollagen gene.
3997552 1985 Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II.
3857598 1985 Identification and characterization of the human type II collagen gene (COL2A1).
3840017 1985 Construction and identification of a cDNA clone for human type II procollagen mRNA.
3800925 1986 Chondrocalcin is identical with the C-propeptide of type II procollagen.
3571333 1987 Interaction of human thrombospondin with types I-V collagen: direct binding and electron microscopy.
3021582 1986 Promoter region of the human pro-alpha 1(II)-collagen gene.
3011107 1986 The C-terminus of type I collagen is a major binding site for heparin.
3004202 1986 Further evidence for the dispersion of the human fibrillar collagen genes.
3002437 1985 Isolation and partial characterization of genomic clones coding for a human pro-alpha 1 (II) collagen chain and demonstration of restriction fragment length polymorphism at the 3' end of the gene.
2987845 1985 Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene.
2825137 1987 Determination of the single polyadenylation site of the human pro alpha 1(II) collagen gene.
2803268 1989 Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens.
2753125 1989 Structural analyses of the polymorphic area in type II collagen gene.
2745554 1989 SPARC, a secreted protein associated with cellular proliferation, inhibits cell spreading in vitro and exhibits Ca+2-dependent binding to the extracellular matrix.
2714801 1989 Organization of the exons coding for pro alpha 1(II) collagen N-propeptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes.
2587267 1989 Nucleotide sequence of the full length cDNA encoding for human type II procollagen.
2572591 1989 Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
2543071 1989 Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
2446864 1987 Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents.
2355003 1990 Differential expression of a cysteine-rich domain in the amino-terminal propeptide of type II (cartilage) procollagen by alternative splicing of mRNA.
2339128 1990 Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
2300123 1990 Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.
2229073 1990 A second fibronectin-binding region is present in collagen alpha chains.
2081599 1990 The human type II procollagen gene: identification of an additional protein-coding domain and location of potential regulatory sequences in the promoter and first intron.
2059554 1991 Decorin interacts with fibrillar collagen of embryonic and adult human skin.
2010058 1991 Mutations in collagen genes: causes of rare and some common diseases in humans.
1999183 1991 Genomic organization of the human procollagen alpha 1(II) collagen gene.
1985108 1991 Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.
1975693 1990 Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
1971141 1990 Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
1905723 1991 Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.
1677770 1991 Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
1637314 1992 Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse.
1621990 1992 Extraction and isolation of mRNA from adult articular cartilage.
1556676 1992 Hypothesis: can type IX collagen "glue" together intersecting type II fibers in articular cartilage matrix? A proposed mechanism.
1544908 1992 Binding of the proteoglycan decorin to collagen type VI.
1444917 1992 Procollagen II gene mutation in Stickler syndrome.
1439770 1992 A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group.
1429602 1992 An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
1397263 1992 Selective binding of anchorin CII (annexin V) to type II and X collagen and to chondrocalcin (C-propeptide of type II collagen). Implications for anchoring function between matrix vesicles and matrix proteins.
1374906 1992 Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.