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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
Association of the COL1A1 gene polymorphisms in Mexican postmenopausal women with fracture or with low bone mineral density at the hip.
Valdés-Flores et al., Mexico. In Aging Clin Exp Res, 30 Oct 2015
The aim was to evaluate the association of two polymorphisms (-1997G/T, +1245G/T) in the collagen type1 alpha 1 gene (COL1A1) with fracture or with low bone mineral density (BMD) at the hip in postmenopausal Mexican women.
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Mornet et al., Le Chesnay, France. In Mol Genet Metab, 29 Oct 2015
We used an array including ALPL gene, genes of differential diagnosis COL1A1 and COL1A2 that represent 90% of OI cases, SOX9, responsible for CD, and 8 potentially modifier genes of HPP.
Effects of Administration of Amlodipine and Lacidipine on Inflammation-Induced Bone Loss in the Ovariectomized Rat.
Unal et al., Erzurum, Turkey. In Inflammation, 28 Oct 2015
Gene expression levels of the osteogenic factor runt-related transcription factor 2 (Runx2) and type I collagen 1A1 (Col1A1) significantly decreased in the OVXinf group, when compared with the control group.
Gene-expression Profiling in Non-small Cell Lung Cancer with Invasion of Mediastinal Lymph Nodes for Prognosis Evaluation.
Regnard et al., Detroit, United States. In Cancer Genomics Proteomics, 10 Oct 2015
The identified up-regulated genes between tumoral versus normal tissue included collagen, type I, alpha 1 (COL1A1), inhibin beta A (INHBA) and thioredoxin interacting protein (TXNIP).
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;
A vitamin D analog inhibits Th2 cytokine- and TGFβ -induced periostin production in fibroblasts: a potential role for vitamin D in skin sclerosis.
Katayama et al., Suita, Japan. In Dermatoendocrinol, Jan 2015
The effect of OCT on Th2 cytokine- and TGFβ-induced POTSN and Collagen 1 α 1 (Col1A1) expression was also assessed.
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.
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
Ozono et al., Suita, Japan. In Eur J Pediatr, Jun 2014
The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease.
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.
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).
[Pigmented dermatofibrosarcoma protuberance: a clinicopathologic analysis of 7 cases].
Ma et al., Nanjing, China. In Zhonghua Bing Li Xue Za Zhi, 2013
Fluorescence in situ hybridization (FISH) was used to detect the expression of COL1A1/PDGFB fusion gene, and related literature was reviewed.
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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