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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
Gene expression of human osteoblasts cells on chemically treated surfaces of Ti-6Al-4V-ELI.
New
Bolfarini et al., São Carlos, Brazil. In Mater Sci Eng C Mater Biol Appl, 01 Jul 2015
The expression levels of some bone related genes (ALPL, COL1A1, COL3A1, SPP1, RUNX2, and SPARC) were analysed using real-time Reverse Transcription Polymerase Chain Reaction (real-time RT-PCR).
Downregulation of the DNA repair enzyme apurinic/apyrimidinic endonuclease 1 stimulates transforming growth factor-beta1 production and promotes actin rearrangement.
New
Inanami et al., Sapporo, Japan. In Biochem Biophys Res Commun, 06 May 2015
When the expression of six ECM-related genes (TGFB1, LAMC1, FN1, COL1A1, COL3A1, and COL4A1) was evaluated, we found that APE1 knockdown upregulated the expression of TGFB1 in both cell lines.
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
New
Pope et al., Northwich, United Kingdom. In Am J Med Genet A, 05 May 2015
UNASSIGNED: Vascular Ehlers-Danlos syndrome (vEDS) is a heritable disorder of connective tissue caused by pathological variants in the COL3A1 gene, which encodes the α1 chain of type III collagen.
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
New
Baas et al., Utrecht, Netherlands. In Am J Med Genet A, 02 May 2015
Vascular EDS, caused by heterozygous mutations in the COL3A1 gene, is characterized by fragile vasculature with a high risk of catastrophic vascular events at a young age.
Cyclic stretch and compression forces alter microRNA-29 expression of human periodontal ligament cells.
New
Atsawasuwan et al., Chicago, United States. In Gene, 28 Apr 2015
Cyclic stretch up-regulated major ECM genes in PDLCs, such as COL1A1, COL3A1 and COL5A1, while the compression force resulted in a down-regulation of these ECM genes.
Extracellular matrix remodeling and its contribution to protective adaptation following lengthening contractions in human muscle.
New
Parcell et al., Provo, United States. In Faseb J, 25 Apr 2015
Expression of collagen I, III, and IV (COL1A1, COL3A1, COL4A1) transcripts was unchanged early but increased 5.7 ± 2.5-, 3.2 ± 0.9-, and 2.1 ± 0.4-fold (P < 0.05), respectively, 27 days post-B1 and were unaffected by B2.
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.
Myofibroblast Expression in Skin Wounds Is Enhanced by Collagen III Suppression.
New
Shier et al., Riyadh, Saudi Arabia. In Biomed Res Int, Dec 2014
One exception is seen in patients and animal models of Ehlers-Danlos syndrome type IV in which the COL3A1 gene mutation results in reduced collagen III but with concurrent increased myofibroblast expression.
Potent effects of dioscin against liver fibrosis.
New
Peng et al., Dalian, China. In Sci Rep, Dec 2014
Furthermore, dioscin markedly increased peroxisome proliferator activated receptor-γ (PPAR-γ) expression and significantly reduced a-smooth muscle actin (α-SMA), transforming growth factor-β1 (TGF-β1), collagen α1 (I) (COL1A1) and collagen α1 (III) (COL3A1) levels in vitro.
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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