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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
Transcription factor Mohawk controls tenogenic differentiation of bone marrow mesenchymal stem cells in vitro and in vivo.
Asahara et al., Tokyo, Japan. In J Orthop Res, 13 Nov 2014
BMP-12 induced tenogenesis in BMMSCs as indicated by increased COL1a1, TNXB, DCN and SCX mRNA, and MKX expression increased simultaneously.
Two years¿ experience with denosumab for children with Osteogenesis imperfecta type VI.
Semler et al., In Orphanet J Rare Dis, 26 Oct 2014
Most OI cases are caused by dominant mutations in COL1A1/2 affecting bone formation.
In vitro characterization of self-assembled anterior cruciate ligament cell spheroids for ligament tissue engineering.
Schulze-Tanzil et al., Berlin, Germany. In Histochem Cell Biol, 26 Oct 2014
Additionally, we analyzed the total sulfated glycosaminoglycan, collagen contents and the expression of the ligament components type I collagen, decorin and tenascin C on protein and for COL1A1, DCN and TNMD on gene level in the spheroids.
Gibbon genome and the fast karyotype evolution of small apes.
Gibbs et al., Portland, United States. In Nature, 11 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.
Mouse models for the evaluation of osteocyte functions.
Komori, Nagasaki, Japan. In J Bone Metab, Feb 2014
Overexpression of Bcl-2 in osteoblasts using 2.3 kb collagen type I alpha1 (COL1A1) promoter causes osteocyte apoptosis due to the severe reduction in the number of osteocyte processes, resulting in the disruption of both intracellular and extracellular communication systems.
An introduction of genetics in otosclerosis: a systematic review.
Grolman et al., Utrecht, Netherlands. In Otolaryngol Head Neck Surg, Jan 2014
These high-quality studies show that otosclerosis in Japanese patients is not linked to the NOG gene and that a polymorphism in the Sp1 binding site located on the COL1A1 gene is associated with otosclerosis as well as OTSC1.
[Pigmented dermatofibrosarcoma protuberance: a clinicopathologic analysis of 7 cases].
Ma et al., Nanjing, China. In Zhonghua Bing Li Xue Za Zhi, Dec 2013
Fluorescence in situ hybridization (FISH) was used to detect the expression of COL1A1/PDGFB fusion gene, and related literature was reviewed.
The role of epigenetics in the fibrotic processes associated with glaucoma.
Wallace et al., Dublin, Ireland. In J Ophthalmol, Dec 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).
Osteogenesis imperfecta and primary open angle glaucoma: Genotypic analysis of a new phenotypic association.
Allingham et al., Durham, United States. In Mol Vis, Dec 2013
DNA from blood samples was sequenced and screened for mutations in COL1A1/2 and myocilin (MYOC).
iTRAQ-proteomics and bioinformatics analyses of mammary tissue from cows with clinical mastitis due to natural infection with Staphylococci aureus.
Zhong et al., Jinan, China. In Bmc Genomics, Dec 2013
Up-regulation of collagen, type I, alpha 1 (COL1A1) and inter-alpha (Globulin) inhibitor H4 (ITIH4) in the mastitis-infected tissue was confirmed by Western blotting and Immunohistochemistry. CONCLUSION: This paper is the first to show the protein expression in the late response to a mastitic pathogen, thus, revealing mechanisms associated with host tissue damage.
Aberrant and alternative splicing in skeletal system disease.
Tang et al., Chongqing, China. In Gene, Nov 2013
On the one hand, splice site mutation that leads to aberrant splicing often causes genetic skeletal system disease, like COL1A1, SEDL and LRP5.
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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