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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
Mice overexpressing integrin αv in fibroblasts exhibit dermal thinning of the skin.
New
Ihn et al., Kumamoto, Japan. In J Dermatol Sci, 22 Jul 2015
Protein and mRNA levels of COL1A2, COL3A1, CTGF and integrin β3 were down-regulated in the skin of Tg mice.
In vitro effects of glutamate and N-methyl-d-aspartate receptor (NMDAR) antagonism on human tendon derived cells.
New
Carr et al., Oxford, United Kingdom. In J Orthop Res, 03 Jul 2015
Both 24 and 72 h of 1.875 mM glutamate exposure reduced Type 1 alpha 1 collagen (COL1A1) and Type 3 alpha 1 collagen (COL3A1) gene expression, but increased Aggrecan gene expression.
Coexpression of recombinant human prolyl with human collagen α1 (III) chains in two yeast systems.
New
Xing et al., Xi'an, China. In Lett Appl Microbiol, 01 Jul 2015
UNASSIGNED: In this study, we co-expressed the human prolyl 4-hydroxylases (P4H) with human collagen α1 (III) (COL3A1) in an inducible system: P. pastoris (pPICZB), and one constitutive system: P. pastoris (pGAPZαB).
6C.02: EXOME SEQUENCING IN SEVEN FAMILIES AND GENE-BASED ASSOCIATION STUDIES SUPPORT GENETIC HETEROGENEITY AND SUGGEST POSSIBLE CANDIDATES FOR FIBROMUSCULAR DYSPLASIA.
New
Bouatia-Naji et al., Montréal, Canada. In J Hypertens, 30 Jun 2015
FBN1, TGFB2 and COL3A1) were excluded as causative in these families.
Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury.
New
Cięszczyk et al., Szczecin, Poland. In Biol Sport, 30 Jun 2015
The aim of this study was to examine the association of the COL3A1 rs1800255 polymorphism with ACL rupture in Polish male recreational skiers.
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
New
Majoor-Krakauer et al., Rotterdam, Netherlands. In Hum Genet, 28 Jun 2015
We analyzed nine genes associated with familial thoracic aortic aneurysms, the vascular Ehlers-Danlos gene COL3A1 and the MTHFR p.Ala222Val variant in 155 AAA patients.
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.
Integrated miRNA-mRNA analysis of Epstein-Barr virus-positive nasopharyngeal carcinoma.
New
Wang et al., Beijing, China. In Genet Mol Res, Dec 2014
The interactions between DEGs and the let-7 or miR-29 families appeared strongest in this network, where CDC25A, COL3A1, and COL1A1 were regulated by several let-7 family members, while COL4A1 and COL5A2 were regulated by several miR-29 family members.
Preventing effects of joint contracture by high molecular weight hyaluronan injections in a rat immobilized knee model.
New
Itoi et al., Sendai, Japan. In Int J Clin Exp Pathol, Dec 2014
The gene expressions of IL-6, IL-1β, TGF-β, CTGF, COL1a1, COL3a1, SPARC, and HIF1-α were significantly lower in the Im-HA group compared to those in the control group.
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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