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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, AGE, COL3A1
Papers using COL1A1 antibodies
Papers on COL1A1
The Influence of Selected Flavonoids from the Leaves of Cirsium palustre (L.) Scop. on Collagen Expression in Human Skin Fibroblasts.
Galicka et al., Białystok, Poland. In Phytother Res, 30 Sep 2014
The lack of effect on collagen content in the medium of compound 6- and compound 12-treated cells, besides an increase in COL1A1 and COL1A2 expression, might be caused by diminished expression of HSP47 gene, resulting in decreased procollagen secretion.
Differentiation of stem cells from human infrapatellar fat pad: characterization of cells undergoing chondrogenesis.
Myers et al., Melbourne, Australia. In Tissue Eng Part A, Aug 2014
Normalized microarray highlighted 608 differentially expressed genes; 10 chondrogenic genes were upregulated (2- to 87-fold), including COL2A1, COL10A1, COL9A1, COL11A1, COL9A2, COL11A2, COL1A1, COMP, SOX9, and COL3A1.
Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype.
Karosi et al., Antwerp, Belgium. In Otol Neurotol, Jul 2014
Thirteen single nucleotide polymorphisms (SNPs) in 6 genes (COL1A1, TGFB1, BMP2, BMP4, AGT, and RELN) were genotyped.
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
Phadke et al., Lucknow, India. In Am J Med Genet A, Jun 2014
Most of the cases are inherited in an autosomal dominant fashion and are caused by mutations in the COL1A1 or COL1A2 genes.
The influence of biodegradable magnesium alloys on the osteogenic differentiation of human mesenchymal stem cells.
Nisbet et al., Australia. In J Biomed Mater Res A, Mar 2014
Increased expression of TGFβ-1, SMAD4, BMPs and COLIA1 protein provided further evidence to support osteogenic differentiation and that the influence of the alloying extracts on differentiation may be via the SMAD signalling pathway.
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.
A mesenchymal glioma stem cell profile is related to clinical outcome.
Karayan-Tapon et al., Poitiers, France. In Oncogenesis, Dec 2013
In addition, hierarchical clustering analysis revealed two groups of GSCs reflecting their heterogeneity and identified COL1A1 and IFITM1 as the most discriminating genes.
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.
Recurrence of infantile cortical hyperostosis: a case report and review of the literature.
Morin et al., Montréal, Canada. In J Pediatr Orthop, Mar 2013
Genetic analysis confirmed the COL1A1 mutation, the classic mutation described in the familial form of this disease.
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.
Giunta et al., Zürich, Switzerland. In Am J Med Genet C Semin Med Genet, 2012
Initially, the autosomal dominant forms of OI, caused by mutations in either COL1A1 or COL1A2, were described.
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.
Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women.
Ralston et al., 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.
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