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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 29 Mar 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
Alternative Splicing of Type II Procollagen: IIB or not IIB?
New
McAlinden, Saint Louis, United States. In Connect Tissue Res, 26 Apr 2014
UNLABELLED: Over two decades ago, two isoforms of the type II procollagen gene (COL2A1) were discovered.
Chondrogenic differentiation of marrow clots after microfracture with BMSC-derived ECM scaffold in vitro.
New
Wang et al., Nanjing, China. In Tissue Eng Part A, 26 Apr 2014
Enhanced cartilage-like matrix deposition of GAG and type II collagen were confirmed by Safranin O and immunohistochemistry staining, respectively, in Groups 2 and 4. The GAG and collagen contents also increased gradually over time in Groups 2 and 4; the increase was greater in Group 4. In addition, RT-PCR demonstrated that the expression of chondrogenic genes, such as COL2, ACAN, and SOX9, was gradually upregulated in Groups 2 and 4.
Exome analysis of connective tissue dysplasia: Death and rebirth of clinical genetics?
New
Wilson, Dallas, United States. In Am J Med Genet A, 24 Apr 2014
Patient 2 presented with arthrogryposis that was correlated with his mother's habitus and arthritis once COL2A1 mutations suggestive of Stickler syndrome were defined.
Differentiation of Stem Cells from Human Infrapatellar Fat Pad: Characterization of Cells Undergoing Chondrogenesis.
New
Myers et al., Melbourne, Australia. In Tissue Eng Part A, 21 Apr 2014
Collagen type II and aggrecan production was confirmed using IHC and chondrogenic lineage markers were studied; SRY-related transcription factor (SOX9), collagen type II alpha 1 (COL2A1), and aggrecan gene expression increased significantly over the time course.
Verapamil Protects against Cartilage Degradation in Osteoarthritis by Inhibiting Wnt/β-Catenin Signaling.
New
Ohno et al., Nagoya, Japan. In Plos One, Dec 2013
Verapamil enhanced gene expressions of chondrogenic markers of ACAN encoding aggrecan, COL2A1 encoding collagen type II α1, and SOX9, and suppressed Wnt-responsive AXIN2 and MMP3 in human OA chondrocytes.
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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