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Collagen, type III, alpha 1

COL3A1
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. 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: COL1A1, HAD, CAN, POLYMERASE, ACID
Papers using COL3A1 antibodies
Receptor-independent actions of PPAR thiazolidinedione agonists: is mitochondrial function the key?
Supplier
Bourke Jane E et al., In Respiratory Research, 2004
... Quantitect primers for the human genes COL1A1, COL3A1 and 18s rRNA were from Qiagen (Hilden, Germany) and the ...
Papers on COL3A1
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy.
New
Mora et al., Milano, Italy. In Biochim Biophys Acta, 31 Jul 2015
MiR-29a and miR-29c were significantly reduced in Duchenne muscle and myoblasts, and miR-29 target transcripts, COL3A1, FBN1 and YY1, significantly increased.
Long-term effects of maternal undernutrition on offspring carotid artery remodeling: role of miR-29c.
New
Pearce et al., Torrance, United States. In J Dev Orig Health Dis, 26 Jun 2015
Expression of mRNA was increased for elastin (ELN) and MMP2 mRNA in 3-week MUN carotids; in 9-month carotids there were also significant increases in expression of Col3A1 and Col4A5.
Suppressed inflammatory gene expression during human hypertrophic scar compared to normotrophic scar formation.
New
Niessen et al., Amsterdam, Netherlands. In Exp Dermatol, 02 Jun 2015
In this study, we compared the expression of genes involved in inflammation, angiogenesis and extracellular matrix (ECM) formation and also macrophage infiltration in biopsies obtained before and up to 52 weeks after standard surgery in 5 patients who developed HTscar and 6 patients who developed It was found that HTscar formation coincided with a prolonged decrease of expression of inflammatory genes (TNFα, IL-1α, IL-1RN, CCL2, CCL3, CXCL2, CXCR2, C3 and IL-10) and an extended increased expression of ECM related genes (PLAU, Col3A1, TGFβ3).
A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1.
New
Paus et al., In Chest, 01 Jun 2015
A sequencing analysis of the COL3A1 gene identified a novel, de novo missense mutation that confirmed the diagnosis of vascular Ehlers-Danlos syndrome (EDS).
Performant Mutation Identification using Targeted Next Generation Sequencing of Fourteen Thoracic Aortic Aneurysm Genes.
New
Van Laer et al., Antwerp, Belgium. In Hum Mutat, 23 May 2015
We identified causal mutations in 15 patients (27%), one in each of the 6 following genes: ACTA2, COL3A1, TGFBR1, MYLK, SMAD3, SLC2A10 (homozygous), 2 in NOTCH1 and 7 in FBN1.
Dysregulated COL3A1 and RPL8, RPS16, RPS23 in Disc Degeneration Revealed by Bioinformatics Methods.
New
Li et al., Shanghai, China. In Spine (phila Pa 1976), 17 May 2015
COL3A1 was the common DEGs in both annulus cells and nucleus pulposus cells.
Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.
Review
New
Khullar et al., London, United Kingdom. In Am J Obstet Gynecol, Feb 2015
Other metaanalyses, including those for polymorphisms of COL3A1,LAMC1,MMP1,MMP3, and MMP9 did not show significant effects.
Inhibition of Tanshinone IIA, Salvianolic Acid A and Salvianolic Acid B on Areca Nut Extract-Induced Oral Submucous Fibrosis in Vitro.
New
Su et al., Shantou, China. In Molecules, Dec 2014
The results showed that Tan-IIA, Sal-A and Sal-B could significantly inhibit the ANE-stimulated abnormal viability and collagen accumulation of mice oral mucosal fibroblasts (MOMFs), inhibit the transcription of procollagen gene COL1A1 and COL3A1, increase MMP-2/-9 activity, decrease TIMP-1/-2 expression and inhibit the transcription and release of CTGF, TGF-β1, IL-6 and TNF-α; Tan-IIA, Sal-A and Sal-B also inhibited the ANE-induced activation of AKT and ERK MAPK pathways in MOMFs and the activation of TGF-β/Smads pathway in HaCaT cells.
Altered expression of fibrosis genes in capsules of failed ahmed glaucoma valve implants.
New
Edward et al., Riyadh, Saudi Arabia. In Plos One, Dec 2014
TaqMan assays for select genes including CCN2 (CTGF), THBS1, SERPINE1, THBS2, COL3A1, MMP3, and IL1A in an increased validation sample set showed significant changes in expression (p value from <0.001 to 0.022) at a high frequency in concurrence with our array results.
Genetic epidemiology of pelvic organ prolapse: a systematic review.
Review
New
Wu et al., Nashville, United States. In Am J Obstet Gynecol, Oct 2014
The metaanalysis suggests that collagen type 3 alpha 1 (COL3A1) rs1800255 genotype AA is associated with pelvic organ prolapse (odds ratio, 4.79; 95% confidence interval, 1.91-11.98;
Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature.
Review
New
Cain et al., Louisville, United States. In J Radiol Case Rep, Feb 2014
Vascular Ehlers-Danlos Syndrome (previously Ehlers-Danlos IV) is a rare autosomal dominant collagen vascular disorder caused by a 2q31 COL3A1 gene mutation encoding pro-alpha1 chain of type III collagen (in contrast to classic Ehlers-Danlos, caused by a COL5A1 mutation).
Heritable thoracic aortic disorders.
Review
Pyeritz, In Curr Opin Cardiol, 2014
RECENT FINDINGS: A classification scheme based on the gene is emerging, those that affect primarily the extracellular matrix (e.g., FBN1, COL3A1), TGF-β signaling (e.g., TGFBR1, TGFB2), or vascular smooth muscle cell contractility (e.g., ACTA2, MYH11).
Endovascular repair of direct carotid-cavernous fistula in Ehlers-Danlos type IV.
Review
Dabus et al., Miami, United States. In Bmj Case Rep, 2013
Ehlers-Danlos syndrome (EDS) type IV is a collagen vascular disease with an autosomal dominant inheritance caused by COL3A1 mutation.
A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms.
GeneRIF
Hui et al., Beijing, China. In Hum Genet, 2012
study found that allele A of SNP rs1800255 conferred a 1.71-fold increased risk for intracranial aneurysms (IAs) and results in an amino acid change of Ala698Thr, which led to a lower thermal stability of the peptide; results support the view that the functional variant of COL3A1 is genetic risk factors for IAs in the Chinese population
Defining requirements for collagenase cleavage in collagen type III using a bacterial collagen system.
GeneRIF
Brodsky et al., United States. In J Biol Chem, 2012
The minimum type III sequence necessary for cleavage by the MMP1 and MMP13 was 5 GXY triplets, including 4 residues before and 11 residues after the cleavage site (P4-P11').
Changes in serum histologic surrogate markers and procollagen III N-terminal peptide as independent predictors of HBeAg loss in patients with chronic hepatitis B during entecavir therapy.
GeneRIF
Cheong et al., Suwŏn, South Korea. In Clin Biochem, 2012
procollagen III N-terminal peptide has a role in HBeAg loss in patients with chronic hepatitis B during entecavir therapy
Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.
GeneRIF
Piao et al., Boston, United States. In Plos One, 2011
a possible common pathological pathway linking connective tissue diseases and brain malformations
Disease-associated mutations prevent GPR56-collagen III interaction.
GeneRIF
Piao et al., Boston, United States. In Plos One, 2011
Disease-associated mutations prevent GPR56-collagen III interaction.
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.
Impact
Boutouyrie et al., Paris, France. In Lancet, 2010
33 patients were positive for mutation of collagen 3A1 (COL3A1).
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
Impact
Byers et al., Seattle, United States. In N Engl J Med, 2000
BACKGROUND: Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1).
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