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Collagen, type I, alpha 1

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, AGE
Papers using COL1A1 antibodies
Papers on COL1A1
Structural and molecular regulation of lung maturation by intratracheal VEGF administration in the normally grown and placentally restricted fetus.
Morrison et al., Adelaide, Australia. In J Physiol, 05 Dec 2015
We examined the effect on expression of genes regulating VEGF signalling (FLK and KDR), angiogenesis (ANGTP1, AQP1, ADM), alveolarisation (MMP2, MMP9, TIMP1, COL1A1, ELN), proliferation (IGR1, IGF2, IGF1R, MKI67, PCNA), inflammation (CCL2, CCL4, IL1B, TNFA, TGFB1, IL10) and surfactant maturation (SFTP-A, SFTP-B, SFTP-C, SFTP-D, PCYT1A, LPCAT, LAMP3, ABCA3).
Osteogenic differentiation gene expression profiling of hMSCs on hydroxyapatite and mineralized collagen.
Wang et al., Beijing, China. In Tissue Eng Part A, 03 Dec 2015
Microarray analysis showed that MC was conducive to express osteogenesis-related genes, such as BMP-2, COL1A1, CTSK, and stimulate osteogenic differentiation, like osteoblast differentiation pathway and skeletal system development pathway.
Novel PPARγ Modulator GED-0507-34 Levo Ameliorates Inflammation-driven Intestinal Fibrosis.
Latella et al., Lille, France. In Inflamm Bowel Dis, 30 Nov 2015
RESULTS: GED improved macroscopic and microscopic intestinal lesions in dextran sulfate sodium-treated animals and reduced the profibrotic gene expression of Acta2, COL1a1, and Fn1 by 1.48-folds (P < 0.05), 1.93-folds (P < 0.005), and 1.03-fold (P < 0.05), respectively.
Inhibition of UV-induced Matrix Metabolism by a Myristoyl Tetrapeptide.
Park et al., Seoul, South Korea. In Cell Biol Int, 29 Nov 2015
In addition, mGLFW increased the expression of collagen genes, including COL1A1, COL1A2, and COL5A1.
Esophageal Cancer Epigenomics and Integrome Analysis of Genome-Wide Methylation and Expression in High Risk Northeast Indian Population.
Saxena et al., New Delhi, India. In Omics, 23 Nov 2015
These included four genes (PTK2, RND1, RND3, and UBL3) with promoter hypermethylation and downregulation, and 19 genes (SEMG2, CD97, CTNND2, CADM3, OMD, NEFM, FBN2, CTNNB1, DLX6, UGT2B4, CCDC80, PZP, SERPINA4, TNFSF13B, NPC1, COL1A1, TAC3, BMP8A, and IL22RA2) with promoter hypomethylation and upregulation.
Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.
Khullar et al., London, United Kingdom. In Am J Obstet Gynecol, Feb 2015
The rs1800012 polymorphism of the COL1A1 gene was associated with prolapse (OR, 1.3; 95% CI, 1.0-1.7;
Osteoarthritis year in review 2014: genetics and genomics.
Tsezou, Lárisa, Greece. In Osteoarthritis Cartilage, Dec 2014
In OA synovium elevation of collagens and cross-linking enzymes (COL1A1, COL5A1, PLOD2, LOX and TIMP1) responsive to TGF-β was found as well as differential expression pattern between different areas of the osteoarthritic synovial membrane.
What is new in genetics and osteogenesis imperfecta classification?
Zabel et al., Belo Horizonte, Brazil. In J Pediatr (rio J), Nov 2014
Approximately 90% of individuals with OI are heterozygous for mutations in the COL1A1 and COL1A2 genes, with dominant pattern of inheritance or sporadic mutations.
Gibbon genome and the fast karyotype evolution of small apes.
Gibbs et al., Portland, United States. In Nature, Oct 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.
[Genetics and pharmacogenetics of osteoporosis].
Omelka et al., In Vnitr Lek, Jul 2014
Potentional predictors of effectivity of antiresorption therapy are genes ER, FDPS, Cyp19A1, VDR, Col1A1 and gene of Wnt pathway.
The role of epigenetics in the fibrotic processes associated with glaucoma.
Wallace et al., Dublin, Ireland. In J Ophthalmol, 2013
There is an accumulation of ECM in the lamina cribrosa (LC) and trabecular meshwork (TM) and upregulation of profibrotic factors such as transforming growth factor β (TGF β ), collagen1 α 1 (COL1A1), and α -smooth muscle actin ( α SMA).
Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition.
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.
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].
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.
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.
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.
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.
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.
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.
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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