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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 25 Jan 2016.

Collagen, type II, alpha 1

COL2A1, Col2
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Aggrecan, CAN, HAD, POLYMERASE, COL1A1
Papers using COL2A1 antibodies
Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes
St-Arnaud René et al., In The Journal of Cell Biology, 1997
... The Col2-Cre transgenic strain was engineered by ...
Visualization of gene expression patterns by in situ.
Zwaka Thomas, In PLoS ONE, 1996
... Col2a1-Cre transgenic mice were originally generated ...
A 182 bp fragment of the mouse pro alpha 1(II) collagen gene is sufficient to direct chondrocyte expression in transgenic mice
Komori Toshihisa et al., In The Journal of Cell Biology, 1994
... Col2a1 gene (sequence data available from EMBL/GenBank/DDBJ under accession number M65161, 1940–2971 nt, and 4930–5571 nt, respectively) in pNASSβ (CLONTECH Laboratories, Inc.) ...
Papers on COL2A1
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
Kim et al., Seoul, South Korea. In Ann Lab Med, 31 Mar 2016
Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1.
High-purity magnesium interference screws promote fibrocartilaginous entheses regeneration in the anterior cruciate ligament reconstruction rabbit model via accumulation of BMP-2 and VEGF.
Chai et al., Shanghai, China. In Biomaterials, 31 Mar 2016
In the present work, biodegradable high-purity magnesium (HP Mg) showed good cytocompatibility and promoted the expression of bone morphogenetic protein-2 (BMP-2) and vascular endothelial growth factor (VEGF), fibrocartilage markers (Aggrecan, COL2A1 and SOX-9), and glycosaminoglycan (GAG) production in vitro.
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
De Leenheer et al., Gent, Belgium. In Eur Arch Otorhinolaryngol, 19 Feb 2016
Twenty molecularly confirmed Stickler patients (age 10-62 year), of whom sixteen with type 1 Stickler syndrome (COL2A1 mutation) and four with type 2 Stickler syndrome (COL11A1 mutation) underwent an otological questionnaire, clinical examination, pure tone and speech audiometry, tympanometry and otoacoustic emission testing.
Skeletal Mineralization Deficits and Impaired Biogenesis and Function of Chondrocyte-Derived Matrix Vesicles in Phospho1(-/-) and Phospho1/Pit1 Double Knockout Mice.
Millán et al., Roma, Italy. In J Bone Miner Res, 15 Feb 2016
To test this hypothesis, we generated mice with col2a1-driven cre-mediated ablation of Slc20a1, hereafter referred to as Pit1, alone or in combination with a Phospho1 gene deletion.
G-quadruplexes as novel cis-elements controlling transcription during embryonic development.
Calcaterra et al., Rosario, Argentina. In Nucleic Acids Res, 14 Feb 2016
Among the PQSs able to fold in vitro as G-quadruplex, those present in nog3, col2a1 and fzd5 promoters were selected for further studies.
Enhanced genome editing in mammalian cells with a modified dual-fluorescent surrogate system.
Luo et al., Århus, Denmark. In Cell Mol Life Sci, 11 Feb 2016
Third, fluorescent tagging of endogenous genes (MYH6 and COL2A1, up to 10.0 % frequency) was achieved in human fibroblasts with C-Check-validated CRISPR/Cas9 vectors.
Reduced Response of Human Meniscal Cells to Osteogenic Protein 1 during Osteoarthritis and Pro-inflammatory Stimulation.
Ferguson et al., Winston-Salem, United States. In Osteoarthritis Cartilage, 08 Feb 2016
RESULTS: OP1 treatment of normal meniscus cells resulted in significant, dose-dependent increases in ACAN (aggrecan) and COL2A1, and decreased MMP13 gene transcription, while only ACAN was upregulated (p<0.01) at the highest dose of OP1 in OA meniscus cells.
Hypoxia potentiates the BMP-2 driven COL2A1 stimulation of human articular chondrocytes via p38 MAPK.
Mallein-Gerin et al., Lyon, France. In Osteoarthritis Cartilage, 18 Jan 2016
RESULTS: BMP-2 is much more efficient to stimulate the expression of the cartilage-specific gene COL2A1 by HACs when cultured under hypoxia (1%O2) compared to normoxia (21%O2).
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Zhang et al., In Invest Ophthalmol Vis Sci, 01 Jan 2016
Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR.
Fuyuan Decoction Enhances SOX9 and COL2A1 Expression and Smad2/3 Phosphorylation in IL-1β-Activated Chondrocytes.
Shang et al., Chongqing, China. In Evid Based Complement Alternat Med, 2014
Herein, we determined the effects of FYD on the expression of transcription factor SOX9 and its target gene collagen type II, alpha 1 (COL2A1) as well as the activation of Smad2/3 in interleukin- (IL-) 1β-stimulated SW1353 chondrosarcoma cells.
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
Futreal et al., Cambridge, United Kingdom. In Nat Genet, 2013
We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases.
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
Mackey et al., Melbourne, Australia. In Clin Experiment Ophthalmol, 2012
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.
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
Snead et al., Cambridge, United Kingdom. In Eur J Hum Genet, 2012
variants detected in either COL2A1 in patients with Stickler syndrome
Somatic mosaicism and the phenotypic expression of COL2A1 mutations.
Snead et al., Cambridge, United Kingdom. In Am J Med Genet A, 2012
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
Chondrogenic differentiation of induced pluripotent stem cells from osteoarthritic chondrocytes in alginate matrix.
Singh et al., Shanghai, China. In Eur Cell Mater, 2011
Increased expression of collagen II, aggrecan, and cartilage oligomeric matrix protein (COMP), were observed during differentiation of induced pluripotent stem cells from osteoarthritic chondrocytes.
Hydroxyl radical modification of collagen type II increases its arthritogenicity and immunogenicity.
Ali et al., Alīgarh, India. In Plos One, 2011
Neo-antigenic epitopes were generated on (*)OH modified CII which rendered it highly immunogenic and arthritogenic as compared to the unmodified form.
Calcification of multipotent prostate tumor endothelium.
Klagsbrun et al., Boston, United States. In Cancer Cell, 2008
Chondrogenic differentiation was accompanied by an upregulation of cartilage-specific col2a1 and sox9, whereas osteocalcin and the metastasis marker osteopontin were upregulated during osteogenic differentiation.
Type II collagen gene variants and inherited osteonecrosis of the femoral head.
Tsai et al., Taipei, Taiwan. In N Engl J Med, 2005
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
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis.
Ikegawa et al., Tokyo, Japan. In Nat Genet, 2005
Asporin suppresses TGF-beta-mediated expression of the genes aggrecan (AGC1) and type II collagen (COL2A1) and reduced proteoglycan accumulation in an in vitro model of chondrogenesis.
SOX9 directly regulates the type-II collagen gene.
Cheah et al., Hong Kong, Hong Kong. In Nat Genet, 1997
During chondrogenesis in the mouse, Sox9 is co-expressed with Col2a1, the gene encoding type-II collagen, the major cartilage matrix protein.
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