Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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transforming growth factor beta receptor 1(TGFBR1) transforming growth factor beta receptor 1(TGFBR1) Related Genes Homo sapiens
CHROMOSOME 9,
CYTOBAND 9q22,
ENSEMBL_GENE_ID ENSG00000106799,
GENERIF_SUMMARY TGF beta type I receptor mRNA concentration on the surface of human osteoblasts is increased by 1 alpha,25-dihydroxyvitamin D3 due to changes in receptor mRNA stability not associaed with an increase in the rate of gene transcription., present in diabetic foot ulcer, Hypertrophic maturation of chondrocytes in induced by the TGF-beta type I receptors., CD44 interaction with the TGF-betaRI kinase promotes activation of multiple signaling pathways required for ankyrin-membrane interaction, tumor cell migration, and oncogenic events during HA and TGF-beta-mediated metastatic breast tumor progression, elucidation of smad requirement in transforming growth factor-beta type I receptor-induced responses, TGF-beta1 receptor expression in peritoneal fibroblasts was increased by hypoxia or hypoxia plus TGF-beta1, but decreased by TGF-beta1 alone., a C-to-T single-nucleotide polymorphism (C-509T) in the TGF-beta1 gene promoter may be associated with altered gene expression and asthma phenotype, expression values for TGF 1 and its receptors I, II, and III were twice as high in the group of patients with a diagnosis of high-grade lymphomas as in the group of patients diagnosed with low-grade lymphomas, Blocking Smad7 expression by RNA interference inhibits association of GADD34-PP1c complex with TbetaRI., combined production of the immunosuppressants IL-10 and TGF-beta, as well as coexpression of TGF-beta RI and RII (required for cellular response to TGF-beta), may act to down-modulate host anti-Mycobacterium tuberculosis immunity, that an increased TGFbetaRI, transforming growth factor-beta signaling has a role in receptor RI induction by histone deacetylase activity inhibition in breast cancer cells, endogenous IGFBP-3 directly inhibits proliferation of human intestinal smooth muscle cells by activation of TGF-betaRI and Smad2, an effect that is independent of its effect on IGF-I-stimulated growth., sphingosine 1-phosphate receptors and the transforming growth factor beta-type I receptor serine/threonine kinase are essential for activation of Smad3 by lysophospholipids, Mutation in the TGFBR1 gene is associated with carcinomas of the kidney and bladder, Dpr2 binds to the TGFbeta receptors ALK5 and ALK4, and accelerates lysosomal degradation of these receptors, NEDD4-2 functions like Smurfs 1 and 2 in that it associates with TGF-beta type I receptor via Smad7, and induces its ubiquitin-dependent degradation, Bikunin neither decreased expression of TGF-beta receptors (TbetaRI and TbetaRII) in cancer cells nor altered the specific binding of 125I TGF-beta1 to the cells., TGF-beta induces biglycan expression through ALK5 and GADD45beta, Genetic alterations reflecting mismatch repair of TGFBR1 gene do not occur in small bowel carcinoid tumors., IL-6 increases trafficking of TGF-beta1 receptors to non-lipid raft-associated pools resulting in augmented TGF-beta1 Smad signaling, possible role of heterozygous mutation in a newly described human phenotype that includes widespread perturbations in cardiovascular, craniofacial, neurocognitive and skeletal development, The high expressions of TGF-beta1 and TGFbR1 play important roles in spontaneous abortion., the Int7G24A variant of the TGFBR1 gene predisposes to small cell lung cancer risk (meta-analysis), Pituitary cells, which demonstrate reduced expression of dopamine beta2 receptor, also show reduction of TGFbeta1 type I receptor., reports the first molecular analysis of MSSE tumours showing loss of heterozygosity of the MSSE region, with loss of the normal allele, providing the first evidence that MSSE is a tumour suppressor gene, TGFbeta1/ALK5 may alleviate scarring in chronic fibrotic disease., HCV NS5A modulates TGF-beta signaling through interaction with TbetaR-I, Int7G24A variant of transforming growth factor-beta receptor type I is associated with invasive breast cancer, Results of this analysis appear to exclude a role for the TGFBR1- or TGFBR2-mediated pathway effect in Kabuki syndrome., ALK5 plays unique, non-redundant cell-autonomous roles during facial development in K14-Cre transgenic mice., A comprehensive genetic analysis of TGFBR1 was performed in patients with Marfan syndrome or Marfan-related phenotypes., TGF-beta type I receptor kinase has a role in progression of growth and metastasis of mouse mammary carcinoma, Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and widespread vascular disease (Loeys-Dietz syndrome), The majority of systemic sclerosis (SSc) fibroblasts exhibit elevated levels of transforming growth factor beta type I receptor (TGFbetaRI)., Synthesis of TGFbeta-1 and type I TGFbeta-receptor increases over time in recipients developing chronic allograft nephropathy., The mRNA expressions of TGFbeta receptor type I (TGFbetaRI) in hMSCs increased with the length of cell culture., Enhances tumor invasion and angiogenesis by stimulating expression of matrix metalloproteinase MMP-9., The expression of TGFbetaR I and TGFbetaR II protein in nasal polyps tissues was significant increased than that in chronic rhinosinusitis tissues., Epac1 inhibits TGFbeta-dependent regulation of cell migration and adhesion through TbetaRI, a distinct BMP and TGFbeta-receptor repertoire may explain the reduced chondrogenic capacity of adipose tissue stromal cells in vitro, common variants in TGFBR1 gene do not strongly influence genetic susceptibility to diabetic nephropathy in an Irish Caucasian population., mRNA codifying for TbetaRI was found in platelets., Our analysis definitely excludes the possibility of the TGFBR1*6A allele increasing the risk of colorectal neoplasia in our sample population., data provide limited support for the hypothesis that sequence variation in TGFBR1 defined by the TGFBR1*6A allele confers an elevated risk of colorectal cancer, no evidence to support the hypothesis that TGFBR1*6A is associated with lung cancer., The mRNA expression of TGF-beta R I in keloid was higher than that in hyperplasic scars and normal skin., mutations in the TGFBR1,2 gene may be associated with greater phenotypic heterogeneity than previously reported, ALK5-dependent Smad3 signaling is the responsible pathway inducing CTGF expression., 4 new variants of T beta RI in malignant effusion tumor cells identified; characterization of 2 elements controlling its stability & transcriptional activation; expression of one variant bestowed cancer cells with growth advantage in presence of TGFbeta, The identification of the splice variants T beta RIB and the novel isoform T beta RIIC in man clearly contributes to the growing complexity of the TGF-beta family., the TGFBR1(*)6A variant may be associated with an increased risk of low-risk familial breast cancer and might be a marker for poorly differentiated breast cancer., Somatic acquisition of TGFBR1*6A by epithelial and stromal cells during head and neck and colon cancer development., A highly significant association between the 6Ala allele of TGFBR1 gene and patients with Marfan syndrome is demonstrated for the first time., Pronounced changes in the expression and localization of the TGF-beta receptors Tgfbr1 were noted as mouse lungs progressed through the canalicular, saccular, and alveolar stages of development., The aim of this study was to analyse the profile of TGF-beta1 and the expression of its receptor (TbetaR I, TbetaR II and TbetaR III-betaglycan) genes in IPAH and in secondary forms of pulmonary arterial hypertension [Eisenmenger's syndrome patients]., TGF-beta-mediated activation of the ALK5-Smad 3 pathway plays a role in SHH promoted motility and invasiveness of gastric cancer cells, TGF-beta1, TbetaRI, and TbetaRII loss of expression correlates with differentiation in human oral squamous cell carcinomas, TGF-beta mediates its effects on proteoglycan synthesis in VSMCs via the ALK5/Smad2/3 phosphorylation pathway as well as via the p38 MAP kinase signaling cascade., TGF-beta complexes assemble cooperatively through recruitment of the low-affinity (type I) receptor by the ligand-bound high-affinity (type II) pair., A direct effect of TGF-beta signaling via ALK5 on the regulation of TNF-alpha synthesis in macrophages, TGFBR1*6A may contribute to cancer progression through RhoA activation in a TGF-beta signaling-independent manner, both ALK1 and ALK5 are needed for TGF-beta-induced phosphorylation of intracellular mediators Smad1/5, whereas only ALK5 is essential for TGF-beta1-induced phosphorylation of Smad3, reduced TGF beta R1 expression could contribute to the development of malignant phenotype of non-small cell lung cancer, Transforming growth factor-beta1 protects against pulmonary artery endothelial cell apoptosis via ALK5., T beta RI sumoylation controls responsiveness to TGF-beta, with implications for tumour progression, TGF-beta receptor I kinase has a role in the pathobiology of ineffective hematopoiesis, MT1-MMP-dependent TGFbeta signaling through Alk5 is also required for PGE(2)-induced endothelial cord formation in vitro, and Alk5 kinase activity is required for PGE(2)-induced neovascularization in vivo., The high expression of genes coding TGFbetaRI, TGF-betaRII and TGF-betaRIII receptors in all the polyps and healthy tissues, show readiness to transduction of TGFbeta, ACE and TGFBR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm, The expression of TGF-betaR I increased in CD8+ T cells of oral lichen planus compared to controls., study showed that germline allele-specific expression(ASE)of the TGFBR1 gene is a quantitative trait occuring in 10 to 20% of colorectal cancer (CRC) patients & 1 to 3% of controls; estimates suggest ASE confers a substantially increased risk of CRC, The G-308A TNF-alpha promoter polymorphism is a risk factor for asthma and furthermore suggests that the patients with high producer alleles for TNF-alpha (-308) and TGF-beta (-509) have the highest risk of getting this disease in the Punjabi population., Mutations in TGFBR1 and TGFBR2 rarely cause sporadic BAV., TGF-beta specifically activates TAK1 through interaction of TbetaRI with TRAF6, whereas activation of Smad2 is not dependent on TRAF6., 177 colorectal cancer patients were genotyped for either the major form of the TGFBR1 receptor gene, homozygous for an internal segment of 9 alanines (9A/9A), or the lesser form, heterozygous for the polymorphism containing 6 alanines (9A/6A)., Mutations and polymorphisms in TGFBR1 and TGFBR2 in patients with Marfan syndrome, Loeys-Dietz syndrome and related disorders are described., Behcets disease cases had lower incidence of TGFBR1(transforming growth factor beta receptor 1) *6A polymorphism compared with controls, 7 different common variants in TGFB1 and TGFBR1 were not associated with an increased risk of bladder cancer, analysis of genetic polymorphisms of transforming growth factor-beta1 and its receptors and colorectal cancer susceptibility, these data are consistent with a role for the activin receptor-like kinase 5 in the progression of idiopathic pulmonary arterial hypertension, TGF-beta1 elevates TbetaRII homodimerization to some degree and strongly enhances TbetaRI.TbetaRII heteromeric complex formation., Bioinformatic and functional analysis of TGFBR1 polymorphisms are reported., Smurf2 promotes trophoblast cell migration and invasion, and this function may involve downregulation of TGF-beta type I receptor., The ACVR2 influenced core 1 mucin-type O-glycosylation differentially, upregulation by ACVR2., There is disregulation in expression of the TGFB1 gene and its receptors as well during isolated Raynaud phenomenon as in systemic sclerosis., Sustained co-cultivation with human placenta-derived MSCs enhances TGFBR1 signaling in human breast epithelial cells, leading to EMT and differentiation., Study shows that there is no association between TGFBR1*6A and breast cancer risk., No substantial support for the hypothesis that the polymorphic variants TGFBR1*6A or Int7G24A contribute to familial colorectal cancer risk., loss of TGFbetaRII in hepatocellular carcinoma triggers activation of the TNF pathway known to be regulated by TGF-beta(1) network, age-related shift in ALK1/ALK5 ratio in murine cartilage and a strong correlation between ALK1 and MMP-13 expression in human cartilage, ALK1 and ALK5 are both essential for correct regulation of VEGF, and that disruption of either pathway leads to disease., we find that germline allele-specific expression of TGFBR1, as assayed in lymphoblastoid and colon epithelial cells of colon cancer patients, is a relatively rare event, Results suggest that the TGFBR1*6A allele does not confer an increased risk of colorectal cancer in the Spanish population., In families w/TGFBR1 mutations, men died younger than women based on Kaplan-Meier survival curves. Women often presented with dissections and aneurysms of arteries other than the ascending thoracic aorta., Elevated serum concentrations of the cytokine TGF-beta1 indicate an increased risk for type 2 diabetes. TGF-beta1 may be upregulated to counterbalance metabolic and immunological disturbances preceding type 2 diabetes., Data show that inhibition of TACE activity or expression enhanced the cell surface TbetaRI levels and TGF-beta-induced Smad3 and Akt activation., Secreted by epithelial cells and macrophages and can cause fibrotic changes in lung tissue, Compared with human fallopian tubes without adhesions or atresias, the expression of TGFbeta1, TGFBR1 and TGFBR2 all increased significantly in adhesion cases., role in activating the nerve growth factor (NGF) system in pancraetic stellate cells (PSC) via TGF-beta., Genetic variations in TGFBR1 associate with abdominal aortic aneurysm in a Dutch population., Study data demonstrates downregulated TGFBR1 expression in psoriatic skin., an association between a TGFBR1 haplotype and risk for non-small-cell lung cancer, Inhibition of transforming growth factor beta receptor I kinase blocks hepatocellular carcinoma growth through neo-angiogenesis regulation., Upon TGF-beta1 stimulation ALK5 phosphorylates Smad2 and 3 with a negative impact on ALK2-Smad1, 5 and 8 signaling in prostate cancer cells., The results suggest that the genetic polymorphisms of IL-4R and TGF-beta1 are associated with the risk of colorectal cancer in a Korean population., TGFBR1*6A/9A polymorphism is associated with cancer susceptibility, increasing the risk of breast and ovarian cancer., two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with Loeys-Dietz syndrome (LDS) and showing marked phenotypic variability., Mutations and/or alterations in expression of TGF-beta receptors and loss of Smad 4 are frequent in human ovarian cancers., The Int7G24A variant of transforming growth factor-beta receptor type I represents a risk factor for colorectal cancer in the male Spanish population., elevated mucosal expression in ulcerative colitis, The data suggest that vitamin D fulfillment is prerequisite for the TGF-beta1 genotype in exerting its full effect on the fracture prevalence., Findings reveal a hyperactive TGFbeta-TGFbetaR-Smad2 signaling axis needed to maintain epigenetic silencing of critical EMT genes and breast cancer progression., Using microarray gene expression profiling of human lung tumors, dysregulation of transforming growth factor-beta signaling was identified as an important mediator of tumor invasion., Extracellular matrix-induced transforming growth factor-beta receptor signaling dynamics., Int7G24A is a polymorphism of TGFBR1 that is associated with the susceptibility and distant metastasis of osteosarcoma., Neither genetic variation nor allele-specific expression at TGFBR1 is likely to be a major colorectal cancer risk factor., The detection of GDF9 and TGFbetaR1 at both at the protein and mRNA levels suggests that GDF9 may have functions in human preantral follicles., The aim of this study was to investigate the effect of TGF-beta1 targeting by antisense oligonucleotides on the RNA synthesis and protein expression of TGF-beta isoforms and their receptors in keloid-derived fibroblasts., TGFBR1*6A, a dominant polymorphism of TGFBR1, is associated with increased susceptibility and metastasis spread of osteosarcoma in a Chinese population., Results showed development of gastric carcinoma is accompanied by markedly decreased cytotoxic function of NK cells and by elevated IL-10 and TGF-beta1 serum levels., Data demonstrates the capacity of glucosamine to promote the osteogenic differentiation of human dental pulp stem cells, and the underlying mechanism involves a TGF-beta receptor 1-dependent Smad signal pathway., Single nucleotide polymorphisms in TGFBR-1 is associated with colorectal cancer., Thrombin stimulation of proteoglycan synthesis in vascular smooth muscle is mediated by protease-activated receptor-1 transactivation of the transforming growth factor beta type I receptor., the connective tissue weakness does not relate to mutations in the genes FBN1, TGFBR1 and TGFBR2, Smad7 thus has an additional mode of interaction with TGF-beta family type I receptors not possessed by Smad6, which may play roles in mediating the inhibitory effects unique to Smad7., two alleles in TGFBR1 are not always equally expressed, constituting a subtle quantitative trait that is weakly associated with the risk for colorectal cancer., blocking ALK5 may be useful in blocking the profibrotic effects of TGFbeta in gingival fibroblasts., Following TGF-beta1 treatment, the activity of serine/threonine phosphatase and recruitment of PP2A-Balpha by TbetaRI increased in benign cells, but not in malignant cells. Defective recruitment of PP2A-Balpha by TbetaRI causes TGF-beta1 overexpression in cancer cells., GATA6 plays a crucial role for endothelial cell function and survival, at least in part, by suppressing autocrine TGFbeta expression and ALK5-dependent signaling., Studies indicate that endoglin (CD105) interacts with type I and type II TGF-beta receptors and modulates TGF-beta signaling., TbetaRII alone is able to mediate TGFbeta signaling to ERK1/2 without participation of TbetaRI., Germline allele specific expression of TGFBR1 does not confer an increased risk of colorectal cancer., A haplotype of TGFBR1 is predominantly found in non-small cell lung cancer patients displaying TGFBR1 allelic-specific expression., CD109 regulates TGF-beta receptor endocytosis and degradation to inhibit TGF-beta signaling., ALK-1 and ALK-5 are both expressed by the majority of AML patients. In addition, ALK-5 expression has a significant negative impact on complete remission achievement and long-term survival of patients, dideoxy sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families with multiple self-healing squamous epithelioma, These results provide evidence that the two TbetaRI, Data indicate that expression of TGF-ss1 and TGF-ssR1 could be used as biological markers of bladder carcinoma., in lung cancer cells, SCUBE3 could serve as an endogenous autocrine and paracrine ligand of TGF-beta type II receptor, which could regulate TGF-beta receptor signaling and modulate EMT and cancer progression, TGF-beta1-induced monocyte migration, requiring ALK5 kinase activity and signalling via PI3K and p38. TGF-beta1-driven monocyte motogenicity is fully functional in diabetic conditions., CD109 release from the cell surface in human keratinocytes regulates TGF-beta receptor expression, TGF-beta signalling and STAT3 activation., TGFBR1 has a specific role in TGFbeta mediated tumor invasion., Data indicate that the addition of a TGF-betaRI kinase inhibitor to the present clinical standard (radiation plus TMZ) has the potential to improve clinical outcome in human glioblastoma., we have proposed that TGF-beta regulates the activation state of the endothelium via two opposing type I receptor/Smad pathways, activin receptor-like kinase (ALK)1 and ALK5--{REVIEW}, TGFBR1 Int7G24A and TGFBR2 G-875A polymorphisms may play important roles in the risk of gastric cardia adenocarcinoma in North China., TGFBR1, TGFBR2, and ACTA2 mutations were found in 4 families with thoracic aortic aneurysms and dissections and predominantly fusiform intracranial aneurysms., The TbetaR-I pre-helix extension is structurally ordered in the unbound form and its flanking prolines are essential for binding., Two polymorphisms of TGFBR1 may confer low-penetrance susceptibility of colorectal cancer risk., atypical protein kinase C isoforms regulate transforming growth factor beta (TGFB) signaling by altering cell surface TGFB receptor trafficking and degradation, Variation in TGFBR1 is associated with dizygotic twinning., No association found for this gene for susceptibility to intracranial aneurysm, A selective inhibitor of the TGFbetaR-I kinase can potentiate radiation responses in glioblastoma by coordinately increasing apoptosis., We have shown that TGF-beta1 expression in gastric tumor tissue with HER2/neu-negative status is of prognostic relevance in gastric cancer., Dominant mutations in this gene cause Ferguson-Smith disease. Review., The balance in signalling through either ALK-1 or ALK-5 regulates leptin expression in mesenchymal stem cells., Gene polymorphisms of TGF-beta1 in 869T > C and PAI-1 4G/5G may affect the susceptibility to IPF in Han ethnicity., Mutations of TGFBR1 are associated with Skin tumors induced by sorafenib., Our study suggests there might be an association between the TGFbeta1 29C>T polymorphism and CVD risk in long-term breast cancer survivors., TGFBR1 as a new candidate prognostic biomarker after acute myocardial infarction, Data suggest that TGF-beta, TGF-betaR1, TGF-betaR2, Smad4, pSmad2/3, and E-cadherin are closely related to tumor-node-metastasis (TNM) stage of colorectal cancer (CRC)., the rs1805110T allele is associated with susceptibility to HBV-related hepatocellular carcinoma in males, TGFBR1 intralocus epistatic interaction as a risk factor for colorectal cancer., promoter methylation may exist in the early stage of esophageal squamous cell carcinoma and play important role in gene silencing, Our results show that USP15 regulates the TGF-beta pathway and is a key factor in glioblastoma pathogenesis, Disease-associated TGFBR1 mutations were found to be inactivating for canonical TGF-beta signaling., a cancer-specific nuclear translocation of TbetaRI; its potential function in regulating nuclear RNA processing, as well as a novel gain-of-function mechanism of TGF-beta signaling in cancer, The Smad7-APC complex links the TGFbeta type I receptor to the microtubule system to regulate directed cellular extension and migratory responses evoked by TGFbeta., In patients with aortic dissection and aortic aneurysm, cytoplasmic staining of TGFbeta1 receptor shows aortic wall structures in disarray and intimal disruption., TGF-beta family signaling through Smads is conceptually a simple and linear signaling pathway, driven by sequential phosphorylation, with type II receptors activating type I receptors, which in turn activate R-Smads [review], analysis of evolution of the TGF-beta superfamily and how they signal through a single pair of receptors, known as TbetaR-I and TbetaR-II [review], Results uncover USP4 as an important determinant for crosstalk between TGF-beta/TGF-beta type I receptor and AKT signalling pathways., TGF-beta1 and its receptors including TGF-betaRI and TGF-betaRII are abnormally expressed in the peripheral blood of immune thrombocytopenic purpura patients., USP11 augments TGFbeta signalling by deubiquitylating ALK5., several polymorphisms detected in the TGFbeta1 gene and its receptor associated with benign and malignant breast tumors, a critical negative regulation level of TGF-beta signaling mediated by HILI (human PIWIL2) by its ability to interact with Hsp90 and promote TbetaR degradation, TGFBR1*6A and IVS7+24G>A polymorphisms of TGFBR1 are associated with the susceptibility of cancer, Genotyped five tagging single nucleotide polymorphisms (SNPs) to represent common variants in the whole TGFBR1 gene., ALK5-mediated phosphorylation of DeltaNp63alpha is required for the anti-clonogenic effects of TGFBeta and ectopic expression of ALK5(IKD) mimics these effects., Data indicate that upregulation of TbetaRI (TGFbeta receptor 1) expression by cAMP was dependent on transcription., Rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology of multiple self-healing squamous epithelioma (MSSE)., Variation in tagged-SNP rs10739778 was associated with preeclampsia in black women., Overexpression of Dlg5 enhances the degradation of TGFBRI., Data indicate that the activation of MAPK and PI3K pathways resulted in TGF-beta1 signaling by down-regulating Nm23-H1 expression and up-regulating the expression of TbetaRI and TbetaRII, favoring further activation of multiple signaling pathways., High TGFBR-1 expression is associated with metastasis in non-small cell lung cancer., The elevated number of circulating regulatory T cells in patients with transient hypogammaglobulinemia of infancy is not associated with any abnormalities in the genes encoding the TGFBR1 or TGFBR2., TGFBR1 and TGFBR2 mutations do not play a major role in isolated myxomatous valve dystrophy. Screening for FLNA mutations is recommended in familial myxomatous valvular dystrophy, particularly if X-linked inheritance is suspected., The expression of TGFbeta receptors (TGFbetaRI and TGFbetaRII) and FGF2 in the lens epithelium of the MCT mice was stronger than that of the wild-type ddY mice at 4 weeks and weaker than that of the wild-type ddY mice at 15 weeks after birth., We describe two patients with a novel missense mutation in TGFBR1 presenting with highly elevated levels of IgE and severe eczema similar to autosomal-dominant Hyper-IgE syndrome., ACLP stimulates the fibroblast-to-myofibroblast transition by promoting SMA expression via TGFbeta signaling and promoting collagen expression through a TGFbeta receptor-independent pathway., TGFBR1 mutations in patients with dural ectasia in Loeys-Dietz syndrome, Glucocorticoids recruit Tgfbr3 and Smad1 to shift transforming growth factor-beta signaling from the Tgfbr1/Smad2/3 axis to the Acvrl1/Smad1 axis in lung fibroblasts., Lumican binds ALK5 to promote epithelium wound healing, Findings indicate that tumor necrosis factor (TNF) receptor-associated factor 6 (TRAF6) was required for the interaction between TGFbeta type I receptor (TbetaRI) and presenilin 1 (PS1)., TbR-I 6A allele and 6A/6A genotype are associated with the ovarian cancer risk., data demonstrate that miR-142-3p influences the proliferation of non-small cell lung cancer cells through repression of TGFbetaR1, We review here the investigations leading to the discovery of loss of function mutations in TGFBR1 that are responsible for the disease, These results suggest that ZNF580 mediates eNOS expression and endothelial cell migration/proliferation via the TGF-b1/ALK5/Smad2 pathway, and thus plays a crucial role in vascular endothelial cells., genetic testing revealed new mutations in FBN1, TGFbetaR1, TGFbetaR2 and ACTA2 detected in patients with clinical diagnosis of Marfan Syndrome, Loeys-Dietz Syndrome and Thoracic Aortic Aneurysms and Dissections., Data show that tacrolimus-induced NAD(P)H-oxidase 4 (Nox4) expression in by aberrant TGF-beta receptor signalling., the hyaluronan receptor CD44 interacts with both PDGFRbeta and TbetaRI., a case-control study and systematic literature review found that sporadic, but not familial colorectal cancer, was associated with TGFBR1*6A polymorphism., Data suggest that ubiquitin specific peptidase 15 (USP15) may play a role in the pathogenesis of psoriasis through regulating the type I TGFbeta receptor (TbetaR-I)/Smad7 pathway., Characteristic TGFbetaR1 expression pattern in keratoacanthoma can facilitate histopathologic distinction from squamous cell carcinoma., Reduced let-7b might be involved in the pathogenesis of chronic thromboembolic pulmonary hypertension by affecting ET-1 and TGBR1 expression and function of arterial endothelial and smooth muscle cells., Results find little evidence for an association between the TGFBR1*6A allele and colorectal cancer risk in certain families., Chinese Han family a pathogenic mutation (rs111426349, c.1459C >T) (TGFBR1) of familial thoracic aortic aneurysm was confirmed, which result in the amino acid substitution p.R487W., PDGF receptor-alpha promotes TGF-beta signaling in hepatic stellate cells via transcriptional and posttranscriptional regulation of TGF-beta receptors., Mutations in genes such as AKT2, CCNA1, MAP3K4, and TGFBR1, were associated significantly with Epstein-Barr-positive gastric tumors, compared with EBV-negative tumors., TGFbetaR1 signaling as a process dysregulated across HPV-related cancers., Donor rs868 AA genotype was associated with worse clinical course of recurrent hepatitis C and more severe symptoms of hepatitis C and fibrosis during follow-up after liver transplantation., We examined nine exons of transforming growth factor b receptor type 1 (TGFbR1) gene in patients with chronic heart failure with different types of heart remodelling, TGF-betaRI and its mRNA levels were lower in older women than in younger ones. In elderly women, only TGF-betaRIota expression correlated negatively with miRNA-21 expression in PBMCs. Age affects TGF-beta signalling in leukocytes by altering its receptor expression., Treatment with a TGFBR1 kinase inhibitor, endocytosis inhibitors or a lysosome inhibitor, normalized the levels of TGFBR1 and TGFBR2., these findings demonstrate that syntenin may act as an important positive regulator of TGF-b signaling by regulating caveolin-1-mediated internalization of TbRI; thus, providing a novel function for syntenin that is linked to cancer progression, The direct fusion of clathrin-coated and caveolae vesicles during TGF-beta receptor endocytic trafficking, which leads to the formation of the multifunctional sorting device, caveolin-1-positive early endosomes, for TGF-beta receptors., these results revealed no correlation between the normalized expression of TGF-beta2, TGF-betaRI, or TGF-betaRII and EDSS scores, Int7G24A polymorphism of gene TGFBR1 involved in the TGF-beta signaling pathway had a significantly increased risk for cancer development. (Meta-analysis), we showed significantly higher HDAC6 levels in GBM from the patients and further showed evidence supporting TGFbeta receptor signaling pathway as a downstream target of HDAC6 in glioblastoma multiforme, The cancer-driven alteration of WWP1 culminates in excessive TbetaRI degradation and attenuated TGFbeta1 cytostatic signaling, a consequence that could conceivably confer tumorigenic properties to WWP1., Women who carry the TGFBR1*6A allele are at lower risk of developing breast cancer., Blocking TGFBR1 receptor up-regulated p21 expression while inhibiting breast tumor cell growth., Data show that macitentan interferes with the profibrotic action of transforming growth factor-beta (TGF-beta), blocking the endothelin receptor type A (ET-1 receptor) portion of the ET-1/TGF-beta receptor complex., results indicate the critical role of TGF-beta R1/Smad2/3 signaling in carbon nanotube-induced fibrogenesis by upregulating collagen production in lung fibroblasts, MiR-1343 reduces the expression of both TGF-beta receptor 1 and 2 by directly targeting their 3'-UTRs., Protease activated receptor-1 mediated dual kinase receptor transactivation stimulates the expression of glycosaminoglycan synthesizing genes and transforming growth factor beta receptor 1, the level of TGFBR1 and early osteogenic differentiation were abolished in the DPSCs transfected with siRNA for GnT-V knockdown...GnT-V plays a critical role in the hexosamine-induced activation of TGF-b signaling and osteogenic differentiation, Studies indicate that the transforming growth factor beta receptor I 6A (TbetaR-I 6A) allele was associated with breast cancer risk., miR-181b functions as a tumor suppressor and has an important role in proliferation, chemosensitivity to DDP and metastasis of NSCLC by targeting TGFbetaR1/Smad signaling pathway., Short hairpin-mediated downregulation of either ALK5 or ALK1 resulted in a strong inhibition of TGFbeta-induced chondrogenesis., Data suggest that transient suppression of TGFbeta receptor I (TGFbeta receptor) signaling may improve the outcome of islet transplantation., This paper highlights that targeting the BMP and TGFbeta type I and type II receptors causes a downregulation of XIAP, TAK1, and Id1 leading to cell death of lung cancer cells.,
OMIM_DISEASE Multiple self-healing squamous epithelioma, susceptibility to, Loeys-Dietz syndrome 1,
SP_COMMENT catalytic activity:ATP + [receptor-protein] = ADP + [receptor-protein] phosphate., cofactor:Magnesium or manganese., disease:Defects in TGFBR1 are the cause of aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]. Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance., disease:Defects in TGFBR1 are the cause of Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]; also known as Furlong syndrome or Loeys-Dietz aortic aneurysm syndrome (LDAS). LDS1 is an aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by arterial tortuosity and aneurysms, craniosynostosis, hypertelorism, and bifid uvula or cleft palate. Other findings include exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree., disease:Defects in TGFBR1 are the cause of Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]. LDS2 is an aortic aneurysm syndrome with widespread systemic involvement. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, diffuse arterial aneurysms and dissections, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. LDS2 is characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that can be present in some patients., function:On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta., PTM:Phosphorylated at basal levels in the absence of ligand binding. Activated by multiple phosphorylation, mainly in the GS region., similarity:Belongs to the protein kinase superfamily., similarity:Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily., similarity:Contains 1 GS domain., similarity:Contains 1 protein kinase domain., subunit:Interacts with CD109. The unphosphorylated protein interacts with FKBP1A and is stabilized the inactive conformation. Phosphorylation of the GS region abrogates FKBP1A binding. Interacts with SMAD2 when phosphorylated on several residues in the GS region., tissue specificity:Found in all tissues examined, most abundant in placenta and least abundant in brain and heart.,