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In the patient diagnosed with PCG and retinal detachment, analysis of WES data identified compound heterozygous variants in COL1A1 (p.Met264Leu; p.Ala1083Thr).
These data, together with those available in literature, suggest that vascular events are not a diagnostic handle to differentiate patients with the p.(Arg312Cys) COL1A1 mutation from those with COL5A1 and COL5A2 defects, and highlight that during the diagnostic process the presence of at least the p.(Arg312Cys) substitution in COL1A1 should be investigated in cEDS patients without type V collagen mutations.
we report an infant with severe OI born following a twin pregnancy in whom the bone disease is caused by a heterozygous pathogenic mutation, c.4160C >T, p.(Ala1387Val) located in the C-propeptide region of COL1A1. Our case adds to the growing evidence of the literature on mutations in the C-propeptide region being associated with a severe OI phenotype.
We conducted a retrospective analysis of data from clinical, laboratory, and radiographic information from children evaluated for child abuse in which molecular testing for COL1A1 and COL1A2 (zeige COL1A2 Proteine) genes was conducted. A total of 43 patients underwent molecular testing for Osteogenesis imperfecta (zeige COL1A2 Proteine) (OI)
our data revealed that COL1A1, UCP2 (zeige UCP2 Proteine), and PRPF40A (zeige PRPF40A Proteine) are novel players implicated in the complex network of hypoxia response in non-small cell lung cancer
In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI (zeige DSG1 Proteine) in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI (zeige DSG1 Proteine) in either dentition
we established a new regulatory model of COL1A1 regulation by HIF-1 (zeige HIF1A Proteine), and bring out its relationship with Sp3 transcription factor. In a fundamental level, these findings give insights in the mechanisms controlling COL1A1 gene expression.
UBQLN4 (zeige UBQLN4 Proteine), APP (zeige APP Proteine), CTNNB1 (zeige CTNNB1 Proteine), SHBG (zeige SHBG Proteine), and COL1A1 might be involved in the development of nonalcoholic fatty liver disease, and are proposed as the potential markers for predicting the development of this condition
Depletion of FKBP65 (zeige FKBP10 Proteine) and inhibition of FKBP65 (zeige FKBP10 Proteine) activity reduced the dimeric (active) form of LH2 (zeige PLOD2 Proteine) but did not affect the binding of monomeric (inactive) LH2 (zeige PLOD2 Proteine) to procollagen Ialpha1.
COL11A1 as a highly specific biomarker of activated cancer-associated fibroblasts in epithelial cancers.
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.
Gremlin1 accelerates hepatic stellate cell activation through upregulation of TGF-B1, alpha-SMA (zeige SMN1 Proteine), and COL1a1 expression in a liver fibrosis disease model.
Type I collagen was highly expressed in the spinal cord during the scar-forming phase and induced astrocytic scar formation via the integrin-N-cadherin (zeige CDH2 Proteine) pathway.
collagen-I-mediated inhibition of proplatelet formation is specifically controlled by GPVI (zeige GP6 Proteine).
miR (zeige MLXIP Proteine)-29b can reduce collagen biosynthesis during skin wound healing likely via post-transcriptional inhibition of HSP47 (zeige SERPINH1 Proteine) expression.
Col1a1Jrt/+ mutant mice produce craniofacial and dental defects consistent with osteogenesis imperfecta (zeige COL1A2 Proteine) and Ehlers-Danlos syndrome
the rate of collagen I degradation was increased in Poldip2 (zeige POLDIP2 Proteine)(+/-) vs. Poldip2 (zeige POLDIP2 Proteine)(+/+) MASMs. Conversely, activation of the PI3K/Akt (zeige AKT1 Proteine)/mTOR (zeige FRAP1 Proteine) signaling pathway, involved in regulation of protein synthesis, was significantly elevated in Poldip2 (zeige POLDIP2 Proteine)(+/-) MASMs as was beta1-integrin expression.
Col1 expression was seen in the cartilage zone of the mandibular condyle cartilage.
HRG (zeige HRG Proteine) binds to alpha2 integrin through low-affinity interactions in a heparin sulfate-independent manner, thereby blocking endothelial cells adhesion to collagen I.
Calreticulin (zeige CALR Proteine) in mediates vascular smooth muscle cell responses to injury through the regulation of collagen deposition and neointima formation.
These observations support a signaling network among JNKs, Smads, Snail1 (zeige SNAI1 Proteine), and cortactin (zeige CTTN Proteine) to regulate the invasion of MDA-MB-231 cells embedded in 3D collagen I, which may be targeted during screening of anti-invasion reagents.
Data show that biglycan (zeige BGN Proteine), collagen type I, collagen type II, decorin (zeige DCN Proteine), and versican (zeige Vcan Proteine) were significantly affected by vibration duration, frequency, and amplitude.
specific ADAMTS-2 domains cleave the aminopropeptide of fibrillar procollagens types I-III and V
In advanced stage granulomas in Mycobacterium bovis-infected cattle, there was an increase in the expression of type I procollagen (zeige COL1A2 Proteine)
These results demonstrate a novel and important functional role of the DDR2 (zeige DDR2 Proteine) extracellular domain that may contribute to collagen regulation via modulation of fibrillogenesis.
Flow induced alpha2beta1 activation in cells on collagen, but not on fibronectin or fibrinogen. Conversely, alpha5beta1 and alphavbeta3 are activated on fibronectin and fibrinogen, but not collagen.
A molecular model of collagen hydration is used to validate centrifugal dehydration force (CDF (zeige CTNNA2 Proteine)) and re-hydration isotherm (RHI) methods to measure and characterize hydration compartments on bovine tendon.
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.
collagen, type I, alpha 1
, alpha 1 type I collagen
, collagen, type I, alpha 2
, collagen type I alpha 1
, procollagen alpha 1 (I)
, collagen 1a1
, alpha-1 type I collagen
, collagen alpha 1 chain type I
, collagen alpha-1(I) chain
, collagen alpha-1(I) chain preproprotein
, collagen of skin, tendon and bone, alpha-1 chain
, pro-alpha-1 collagen type 1
, alpha-1 type 1 collagen
, procollagen, type I, alpha 1
, alpha-1 collagen (I)
, collagen alpha-1 chain
, type I collagen pre-pro-alpha1(I) chain
, prepro-alpha-1 collagen type I
, type I collagen alpha 1 chain
, type I collagen alpha1
, pro-alpha-1 type 1 collagen
, collagen, type 1, alpha 1
, procollagen type I, alpha 1
, procollagen, type 1, alpha 1