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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

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)
Top mentioned proteins: HAD, CAN, POLYMERASE, COL3A1, V1a
Papers using COL1A1 antibodies
Papers on COL1A1
Aryl hydrocarbon receptor-driven signals inhibit collagen synthesis in the gut.
New
Monteleone et al., Roma, Italy. In Eur J Immunol, Feb 2016
In CD fibroblasts, TGF-β1 and TNF-α increased Col1A1, Col3A1 and α-SMA transcripts and collagen secretion and this effect was reduced by Ficz and upregulated by CH22319.
Osteogenic potential of human adipose-tissue derived mesenchymal stromal cells cultured on 3D-printed porous structured titanium.
New
van Wijnen et al., Rochester, United States. In Gene, Feb 2016
Compared to standard tissue culture plastic, AMSCs grown in the porous titanium microenvironment showed differences in temporal expression for genes involved in cell cycle progression (CCNB2, HIST2H4), extracellular matrix production (COL1A1, COL3A1), mesenchymal lineage identity (ACTA2, CD248, CD44), osteoblastic transcription factors (DLX3, DLX5, ID3) and epigenetic regulators (EZH1, EZH2).
Mifepristone inhibits extracellular matrix formation in uterine leiomyoma.
New
Catherino et al., Bethesda, United States. In Fertil Steril, Feb 2016
MAIN OUTCOME MEASURE(S): Expression of COL1A1, fibronectin, versican variant V0, and dermatopontin in treated leiomyoma cells by Western blot analysis and confirmatory immunohistochemistry staining of treated 3D cultures.
Protective effects of carnosine alone and together with alpha-tocopherol on lipopolysaccharide (LPS) plus ethanol-induced liver injury.
New
Uysal et al., İstanbul, Turkey. In Environ Toxicol Pharmacol, Jan 2016
Reactive oxygen species formation, malondialdehyde levels, myeloperoxidase activities and transforming growth factor β1 (TGF-β1) and collagen 1α1 (COL1A1) expressions were observed to decrease.
What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.
Review
New
Byers et al., In Am J Med Genet C Semin Med Genet, Dec 2015
We summarize our data of molecular testing in the Collagen Diagnostic Laboratory (CDL) from 2008 to 2014 where NAI was noted on the request for DNA sequencing of COL1A1 and COL1A2.
Dermatofibrosarcoma protuberans: from translocation to targeted therapy.
Review
New
Jones et al., London, United Kingdom. In Cancer Biol Med, Dec 2015
Treatment options for systemic disease were limited until the discovery of a unique translocation, t(17;22)(q22;q13) (COL1A1;PDGFB) found in a majority of cases.
Autologous leukocyte-reduced platelet-rich plasma therapy for Achilles tendinopathy induced by collagenase in a rabbit model.
New
Carmona et al., Manizales, Colombia. In Sci Rep, Dec 2015
We compared, at 4 and 12 weeks (w), the LR-PRP and placebo (PBS) effects on ultrasonography, histology and relative gene expression of collagen types I (COL1A1) and III (COL3A1) and vascular endothelial growth factor (VEGF) in 24 rabbits with TAT induced by collagenase.
Identification of Commonly Dysregulated Genes in Non-small-cell Lung Cancer by Integrated Analysis of Microarray Data and qRT-PCR Validation.
Review
New
Wang et al., Shijiazhuang, China. In Lung, Aug 2015
The protein-protein interaction network analysis for the top 20 significantly DEGs revealed that CAV1, COL1A1, and ADRB2 were the significant hub proteins.
Osteogenesis Imperfecta
Review
New
Smith et al., Madagascar. In Unknown Journal, May 2015
The classical Sillence types of OI (types I-IV) with autosomal dominant inheritance comprise about 85% of cases and are caused by mutations in the genes that encode type I collagen, COL1A1 and COL1A2.
Role and New Insights of Pirfenidone in Fibrotic Diseases.
Review
Armendariz-Borunda et al., Guadalajara, Mexico. In Int J Med Sci, 2014
Pirfenidone (PFD) is a non-peptide synthetic molecule issued as a broad-spectrum anti-fibrotic drug with the ability to decrease TGF-β1, TNF-α, PDGF and COL1A1 expression, which is highly related to prevent or remove excessive deposition of scar tissue in several organs.
Gibbon genome and the fast karyotype evolution of small apes.
Impact
Gibbs et al., Portland, United States. In Nature, 2014
Finally, we identify signatures of positive selection in genes important for forelimb development (TBX5) and connective tissues (COL1A1) that may have been involved in the adaptation of gibbons to their arboreal habitat.
Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition.
GeneRIF
Baumann et al., Bern, Switzerland. In Proc Natl Acad Sci U S A, 2012
Crystal structures of Hsp47 in its free form and in complex with homotrimeric synthetic collagen model peptides, are presented.
Two subsystems of meniscal collagen and their different thermal stabilities.
GeneRIF
Sergeeva et al., Moscow, Russia. In Dokl Biochem Biophys, 2012
Two subsystems of meniscal collagen and their different thermal stabilities.
[Studies of type I collagen (COL1A1) alpha1 chain in patients with osteogenesis imperfecta].
GeneRIF
Khusnutdinova et al., In Genetika, 2012
were revealed. Mutations in COL1A1 gene and three alterations in the nucleotide sequence c.544-24C > T, c.643-36delT, and c.957 + 10insA were described in 41 patients with osteogenesis imperfecta for the first time
Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone.
GeneRIF
Lund et al., Copenhagen, Denmark. In Plos Genet, 2011
we show that Prdm5 controls both Collagen I transcription and fibrillogenesis by binding inside the Col1a1 gene body and maintaining RNA polymerase II occupancy
Experimental murine myopia induces collagen type Iα1 (COL1A1) DNA methylation and altered COL1A1 messenger RNA expression in sclera.
GeneRIF
Qu et al., Wenzhou, China. In Mol Vis, 2011
Hypermethylation of CpG sites in the promoter/exon 1 of COL1A1 may underlie reduced collagen synthesis at the transcriptional level in myopic scleras.
Recessively inherited forms of osteogenesis imperfecta.
Review
Impact
Pyott et al., 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.
Gene targeting in stem cells from individuals with osteogenesis imperfecta.
Impact
Russell et al., 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
Russell et al., 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
Kind et al., 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.
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