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Brain MRI (zeige C7ORF49 Proteine) in the affected siblings as well as in the two previously reported individuals with bi-allelic COL3A1 mutations showed a brain phenotype similar to that associated with mutations in GPR56 (zeige GPR56 Proteine).
Given the high specificity of the polymorphism at the rs1800255 locus of the COL3A1 gene, determined by the Sanger sequencing, it can be concluded that there is an association between this polymorphism and urinary incontinence and pelvic organ prolapse in women.
Case Report: novel missense COL3A1 mutation in vascular Ehlers-Danlos syndrome patient presenting with pulmonary complications and iliac arterial dissection.
Kaplan-Meir analysis of GSE7696 indicate that COL3A1 and SNAP91 correlated with survival.
provide a picture of the gene expression changes in vascular Ehlers-Danlos syndrome skin fibroblasts and highlight that dominant negative mutations in COL3A1 also affect post-translational modifications and deposition into the ECM (zeige MMRN1 Proteine) of several structural proteins crucial to the integrity of soft connective tissues
Abnormal regulation of COL1 and COL3 may contribute to the early predisposition to POP (zeige PREP Proteine) in premenopausal women.
We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant.
In conclusion, based on serological collagen formation and degradation makers, penetrating Crohn's disease is associated with increased matrix metalloproteinase-9 (zeige MMP9 Proteine) mediated breakdown of type III collagen
Col3A may be a potential adjunct marker for both differentiating fibroadenoma from phyllodes tumor and assessing malignant potential in PTs (zeige PTS Proteine).
Case Report: pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp in Ehlers-Danlos syndrome vascular type with different phenotypes in the same family.
osthole could inhibit the collagen I and III expressions and their ratio in CFs treated with TGF-beta1 (zeige TGFB1 Proteine) via Smad (zeige SMAD1 Proteine) signaling pathway, which might be one of its anti-fibrotic action mechanisms.
The findings indicate the critical role of CatB in regulating the expression of collagens III and IV by fibroblasts via prolonging TLR2/NF-kappaB (zeige NFKB1 Proteine) activation and oxidative stress.
Tsk2 expressing mice harbor numerous autoantibodies in their plasma, including some which are similar to antinuclear antibodies present in systemic sclerosis patients.
Tight skin (zeige FBN1 Proteine) 2 mice exhibit a novel time line of events leading to increased extracellular matrix deposition and dermal fibrosis.
Tsk2 point mutation is the first documented gain-of-function mutation associated with Col3a1, which leads instead to fibrosis.
Col3 plays a role in development of trabecular bone through its effects on osteoblast differentiation
Type I collagen turnover is critical to large pulmonary artery remodeling during hypoxic pulmonary hypertension when collagen metabolism is not mutated and type III collagen may serve as a reserve.
Our findings demonstrated the extreme sensitivity of Col3a1 insufficient mice to prematurely develop thoracic aortic ruptures in response to AngII and its associated high levels in BP.
Data show that that Col3a1 null mutant mice exhibit overmigration of neurons beyond the pial basement membrane and a cobblestone-like cortical malformation similar to the phenotype seen in Gpr56 (zeige GPR56 Proteine) null mutant mice.
Diminished type III collagen promotes myofibroblast differentiation and increases scar deposition in cutaneous wound healing
specific ADAMTS-2 domains cleave the aminopropeptide of fibrillar procollagens types I-III and V
The present results suggest that not only type III collagen but also cartilage oligomeric matrix protein (zeige COMP Proteine) is involved in the repair and remodeling processes of the digital flexor tendon.
Ammonium perchlorate can increase gene expressions of types I, III collagens, TGF-beta(1 (zeige TGFB1 Proteine)) and TNF-alpha (zeige TNF Proteine) in lung of rabbits.
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.
Ehlers-Danlos syndrome type IV, autosomal dominant
, alpha1 (III) collagen
, collagen alpha-1(III) chain
, collagen, fetal
, minisatellite 10w detected by probe MMS10
, procollagen, type III, alpha 1
, alpha 1 type III collagen
, collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
, collagen alpha 1 type III
, collagen, type III, alpha 1 chain, fibril forming
, collagen alpha-1(III) chain preproprotein
, collagen type III alpha 1
, procollagen alpha-1 type III
, collagen, type III, alpha 1
, type III collagen
, pro-alpha-1 type 3 collagen
, collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) S homeolog