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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 25 Oct 2014.

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: CAN, HAD, Aggrecan, POLYMERASE, COL1A1
Papers using COL2A1 antibodies
Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes
Supplier
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.
Supplier
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
Supplier
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
Altered response of fibroblasts from human tympanosclerotic membrane to interacting mast cells: implication for tissue remodelling.
New
Kuczkowski et al., Gdańsk, Poland. In Int J Biochem Cell Biol, 10 Nov 2014
We noted that the COL2A1 transcript level increased ∼5- and ∼12-fold in Fs™ and Fs™(S) co-cultured with HMC-1(FcɛRI), respectively.
Effects of deer bone extract on the expression of pro-inflammatory cytokine and cartilage-related genes in monosodium iodoacetate-induced osteoarthritic rats.
New
Suh et al., Seoul, South Korea. In Biosci Biotechnol Biochem, 31 Oct 2014
Decreases in the expression of collagen type II (COL2) and tissue inhibitors of metalloproteinases (TIMPs) mRNAs in the cartilage were significantly inhibited by deer bone extract treatment (p < 0.05).
Sulfation patterns of exogenous chondroitin sulfate affect chondrogenic differentiation of ATDC5 cells.
New
Iwasaki et al., Sapporo, Japan. In J Orthop Sci, 11 Oct 2014
Real-time RT-PCR showed that CS-E significantly enhanced all chondrogenic markers, col2a1, aggrecan, and sox9, either at day 4 or day 14 of culture.
Alternative protocols to induce chondrogenic differentiation: transforming growth factor-β superfamily.
New
Blanco et al., A Coruña, Spain. In Cell Tissue Bank, 10 Oct 2014
In this culture media, differentiated cells showed the highest levels expression of two markers of chondrogenesis, SOX9 and COL2A1, compared to the control points (p < 0.05, two-tailed t test).
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
New
Coucke et al., Gent, Belgium. In Mol Genet Metab, 08 Oct 2014
About 85% of the pathogenic variants is found in COL2A1 (Stickler type 1), whereas a minority of mutations has been reported in COL11A1 (Stickler type 2) and COL11A2 (Stickler type 3).
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
New
Impact
Futreal et al., Cambridge, United Kingdom. In Nat Genet, Aug 2013
We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases.
Alternative splicing and retinal degeneration.
Review
New
Zack et al., Baltimore, United States. In Clin Genet, Aug 2013
Mutations in alternatively spliced retina-specific exons of the widely expressed RPGR and COL2A1 genes lead primarily to X-linked RP and ocular variants of Stickler syndrome, respectively.
Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.
Review
New
Zwerina et al., Vienna, Austria. In Semin Arthritis Rheum, Feb 2013
METHODS: We report a patient with severe polyarticular OA starting in young adulthood due to a heterozygous mutation in the COL2A1 gene.
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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
Clinical phenotypes associated with type II collagen mutations.
Review
Savarirayan et al., Toronto, Canada. In J Paediatr Child Health, 2012
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.
Chondrogenic differentiation of induced pluripotent stem cells from osteoarthritic chondrocytes in alginate matrix.
GeneRIF
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.
GeneRIF
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.
Hearing impairment in Stickler syndrome: a systematic review.
Review
De Leenheer et al., Gent, Belgium. In Orphanet J Rare Dis, 2011
It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance).
[Novel small compound in combination with cell-sheet technology for articular cartilage regeneration].
Review
Chung et al., Tokyo, Japan. In Clin Calcium, 2011
Aiming at regeneration of articular cartilage, we have established stable lines of mouse chondrogenic ATDC5 cells expressing green fluorescent protein under the control of type II collagen promoter fused with four repeats of a SOX9 enhancer (COL2A1-GFP) , as a monitoring system for chondrogenic differentiation.
Calcification of multipotent prostate tumor endothelium.
Impact
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.
Impact
GeneRIF
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.
Impact
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.
Impact
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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