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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
Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
Furuichi et al., Morioka, Japan. In Biochem Biophys Res Commun, 03 Dec 2015
UNASSIGNED: In humans, mutations in the COL2A1 gene encoding the α1(II) chain of type II collagen, create many clinical phenotypes collectively termed type II collagenopathies.
Intrauterine low-functional programming of IGF1 by prenatal nicotine exposure mediates the susceptibility to osteoarthritis in female adult rat offspring.
Chen et al., Wuhan, China. In Faseb J, 23 Nov 2015
For adult offspring, increased cartilage destruction and accelerated OA progression were observed in the PNE group with running; the expression of α1 chain of type II collagen (Col2A1), aggrecan, SRY-type high mobility group box 9 (Sox9), and IGF1 signaling molecules in the cartilage of PNE offspring were decreased.
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Touitou et al., Montpellier, France. In Hum Mutat, 07 Nov 2015
UNASSIGNED: Mutations in the COL2A1 gene cause a spectrum of rare autosomal dominant conditions characterized by skeletal dysplasia, short stature, and sensorial defects.
The Stimulatory Effect of Notochordal-Cell Conditioned Medium in a Nucleus Pulposus Explant Culture.
Ito et al., Eindhoven, Netherlands. In Tissue Eng Part A, 30 Oct 2015
Samples were cultured for 4 weeks, and analyzed for biochemical contents (water, GAG, hydroxyproline, and DNA), gene expression (COL1A1, COL2A1, ACAN, and SOX9), and histology by Safranin O/Fast Green staining.
Persistent Notochord in a Fetus with COL2A1 Mutation.
Borowski et al., Rochester, United States. In Case Rep Obstet Gynecol, Dec 2014
Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with a COL2A1 mutation.
Pro-chondrogenic effect of miR-221 and slug depletion in human MSCs.
Piva et al., Ferrara, Italy. In Stem Cell Rev, Dec 2014
We demonstrated that decreased miR-221 or Slug induced an increase of chondrogenic markers, including collagen type II (Col2A1), and the positive chondrogenic TFs Sox9 and TRPS1.
Alternative splicing of type II procollagen: IIB or not IIB?
McAlinden, Saint Louis, United States. In Connect Tissue Res, Jun 2014
Over two decades ago, two isoforms of the type II procollagen gene (COL2A1) were discovered.
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.
Alternative splicing and retinal degeneration.
Zack et al., Baltimore, United States. In Clin Genet, 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.
Zwerina et al., Vienna, Austria. In Semin Arthritis Rheum, 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.
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.
Hearing impairment in Stickler syndrome: a systematic 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).
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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