GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
Collagen, type I, alpha 1
COL1A1, COLIA1
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] (from
NCBI)
Sponsored links
Papers using
COL1A1
antibodies
The loss of Smad3 results in a lower rate of bone formation and osteopenia through dysregulation of osteoblast differentiation and apoptosis
Supplier
In PLoS ONE, 2000
... Col1a1(3.6)-Cre
Papers on
COL1A1
Streptolysin-O/antibiotics adjunct therapy modulates site-specific expression of extracellular matrix and inflammatory genes in lungs of Rhodococcus equi infected foals.
New
Providence, United States. In Vet Res Commun, 09 Apr 2013
Several genes, MMP9, MMP2, TIMP2, COL1A1, COL12A1, ITGAL, ITGB1, FN1, CCL2, CCL3, CXCL9, TNFα, SMAD7, CD40, IL10, TGFB1, and TLR2, were significantly regulated compared to the unchallenged/untreated control foals.
Implicating Exudate Macrophages and Ly-6Chigh Monocytes in CCR2-Dependent Lung Fibrosis following Gene-Targeted Alveolar Injury.
New
Ann Arbor, United States. In J Immunol, 06 Apr 2013
Further analyses revealed that the ExM are alternatively activated and that ExM and Ly-6Chigh monocytes express mRNA for IL-13, TGF-β, and the collagen genes, COL1A1 and COLIIIA1.
The enforced expression of c-Myc in pig fibroblasts triggers mesenchymal-epithelial transition (MET) via F-actin reorganization and RhoA/Rock pathway inactivation.
New
Guangzhou, China. In Cell Cycle, 06 Apr 2013
qRT-PCR, immunofluorescence and western blot analysis illustrated that epithelial-like morphological changes were accompanied by the increased expression of epithelial markers [such as cell adhesion proteins (E-cadherin, a-catenin and Bves), tight junction protein occludin and cytokeratins (Krt8 and Krt18)], the reduced expression of mesenchymal markers [vimentin, fibronectin 1 (FN1), snail1, collagen family of proteins (COL1A1, COL5A2) and matrix metalloproteinase (MMP) family (MMP12 and MMP14)] and the decreased cell motility and increased cell adhesion in c-Myc-expressing PEFs and PDFs.
MicroRNA29: A Mechanistic Contributor and Potential Biomarker in Atrial Fibrillation.
New
Montréal, Canada. In Circulation, 04 Apr 2013
Expression of miR29b ECM target-genes collagen-1A1 (COL1A1), collagen-3A1 (COL3A1), and fibrillin increased significantly in CHF-fibroblasts.
Mutations in WNT1 are a cause of osteogenesis imperfecta.
New
Montréal, Canada. In J Med Genet, 23 Mar 2013
BACKGROUND: Osteogenesis imperfecta (OI) is a heritable bone fragility disorder that is usually due to dominant mutations in COL1A1 or COL1A2.
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.
Review
New
Zürich, Switzerland. In Am J Med Genet C Semin Med Genet, Sep 2012
Initially, the autosomal dominant forms of OI, caused by mutations in either COL1A1 or COL1A2, were described.
MiR-133a regulates collagen 1A1: potential role of miR-133a in myocardial fibrosis in angiotensin II-dependent hypertension.
New
GeneRIF
Monza, Italy. In J Cell Physiol, Feb 2012
These data demonstrate a relationship between miR-133a and Col1A1, suggesting that myocardial fibrosis occurring in Ang II-dependent hypertension is regulated by the down-regulation of miR-133a and miR-29b through the modulation of Col1A1 expression.
Osteogenesis imperfecta missense mutations in collagen: structural consequences of a glycine to alanine replacement at a highly charged site.
GeneRIF
United States. In Biochemistry, 2012
modeling genetic changes in COL1A1 found in osteogenesis imperfecta: Gly to Ala replacement in peptide fragments from COL1A1 leads to substantial loss of triple helix stability.
Recessively inherited forms of osteogenesis imperfecta.
Impact
Seattle, United States. In Annu Rev Genet, 2011
More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of the two type I collagen genes, COL1A1 and COL1A2.
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
Review
Amsterdam, Netherlands. In Ned Tijdschr Geneeskd, 2011
When osteogenesis imperfecta is suspected, DNA analysis of the dominant COL1A1 and COL1A2 genes is currently the starting point for laboratory diagnosis unless there are strong indications for a recessive cause.
Management of dermatofibrosarcoma protuberans with fibrosarcomatous transformation: an evidence-based review of the literature.
Review
Bonn, Germany. In J Eur Acad Dermatol Venereol, 2011
Irresectable or metastatic transformed DFSP harbouring the COL1A1-PDGFB fusion gene should be treated with imatinib in the palliative setting or as an adjunctive treatment before surgery, although responses may be short-lasting.
A novel role of vimentin filaments: binding and stabilization of collagen mRNAs.
GeneRIF
Tallahassee, United States. In Mol Cell Biol, 2011
study reports that vimentin filaments associate with collagen mRNAs in a 5'stem-loop sequence and LARP6-dependent manner and stabilize collagen mRNAs
Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.
GeneRIF
Sfax, Tunisia. In Ann Hum Genet, 2011
study found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific; the coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.
GeneRIF
Tokyo, Japan. In Am J Med Genet A, 2011
One case with osteogenesis imperfecta type IIC and the sibs had novel heterozygous mutations in the C-propeptide region of COL1A1, while the second patient with clearcut OI IIC had no mutation in this region.
Allele-specific gene silencing in osteogenesis imperfecta.
Review
Uppsala, Sweden. In Endocr Dev, 2010
OI is caused by mutations in the genes encoding for collagen type I COL1A1 and COL1A2, respectively.
[Osteogenesis imperfecta and achievements in cell and gene therapy].
Review
Zagreb, Croatia. In Acta Med Croatica, 2010
The most common cause of this inheritable disorder of connective tissue are mutations affecting the COL1A1 and COL1A2 genes of type I collagen.
Gene targeting in stem cells from individuals with osteogenesis imperfecta.
Impact
Seattle, United States. In Science, 2004
Here, we have used adeno-associated virus vectors to disrupt dominant-negative mutant COL1A1 collagen genes in MSCs from individuals with the brittle bone disorder osteogenesis imperfecta, demonstrating successful gene targeting in adult human stem cells.
Targeted transgene insertion into human chromosomes by adeno-associated virus vectors.
Impact
Seattle, United States. In Nat Biotechnol, 2002
Here we have used AAV vectors to introduce large (>1 kb) functional transgene cassettes into the hypoxanthine phosphoribosyl transferase (HPRT) and Type I collagen (COL1A1) loci in normal human fibroblasts.
Production of gene-targeted sheep by nuclear transfer from cultured somatic cells.
Impact
Edinburgh, United Kingdom. In Nature, 2000
Here we describe efficient and reproducible gene targeting in fetal fibroblasts to place a therapeutic transgene at the ovine alpha1(I) procollagen (COL1A1) locus and the production of live sheep by nuclear transfer.
Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women.
Impact
Rotterdam, Netherlands. In N Engl J Med, 1998
One way in which the genetic component could be expressed is through polymorphism of COLIA1, the gene for collagen type Ialpha1, a bone-matrix protein.
