TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 GeneticVariation disease BEFREE Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 10973241 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 Biomarker disease BEFREE Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base. 10631145 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 GeneticVariation disease BEFREE Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. 11062463 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 GeneticVariation disease UNIPROT Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 10973241 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 GeneticVariation disease UNIPROT Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. 11062463 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 Biomarker disease CTD_human
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 CausalMutation disease CLINVAR
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 Biomarker disease HPO
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0004096
Disease: Asthma
Asthma
0.700 Biomarker disease BEFREE Asthma model was induced using ovalbumin (OVA) method and AMSC hyperplasia model was induced using TGF-β1. 31733831 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Type 2 diabetes-associated polymorphisms correlate with SIRT1 and TGF-β1 gene expression. 31799723 2020
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.700 Biomarker disease BEFREE In summary, PD29 reversed EMT and transformation of fibroblasts into myofibroblasts <i>in vitro</i> and prevented PF <i>in vivo</i> possibly by suppressing the TGF-β1/Smad pathway. 31210057 2020
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.700 Biomarker disease BEFREE Here, we found that LSD1 expression was elevated in lung tissues of mice with bleomycin-induced pulmonary fibrosis and lung fibroblasts treated with transforming growth factor-β1 (TGF-β1). 31830521 2020
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.700 Biomarker disease BEFREE Tanshinone IIA attenuates silica-induced pulmonary fibrosis via inhibition of TGF-β1-Smad signaling pathway. 31706104 2020
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.700 Biomarker disease BEFREE GHK-Cu presented a protective effect in BLM-induced inflammation and oxidative stress by inhibiting EMT progression and suppressing TGFβ1/Smad2/3 signalling in pulmonary fibrosis. 31809714 2020
CUI: C0004096
Disease: Asthma
Asthma
0.700 Biomarker disease BEFREE Here, we assessed whether TGF-β1 affects the ability of HASM cells to relax in response to β<sub>2</sub>-agonists, a mainstay treatment for airway hyperresponsiveness in asthma. 30742476 2019
CUI: C0004096
Disease: Asthma
Asthma
0.700 AlteredExpression disease BEFREE Among elderly asthmatics, subjects with severe asthma had lower FEV1 (% predicted) value, but showed significantly higher serum levels of eotaxin-2 and TGF-β1, than those with non-severe asthma (<i>P</i> < 0.05 for each). 30479079 2019
CUI: C0004096
Disease: Asthma
Asthma
0.700 Biomarker disease BEFREE Taken together, the present results have revealed that PCA inhibits asthma airway remodeling by suppressing proliferation and extracellular matrix (ECM) protein deposition in TGF-β1-mediated ASMCs via the inactivation of Smad2/3 signaling pathway. 30472056 2019
CUI: C0004096
Disease: Asthma
Asthma
0.700 Biomarker disease BEFREE MicroRNA-744 Inhibits Proliferation of Bronchial Epithelial Cells by Regulating Smad3 Pathway via Targeting Transforming Growth Factor-β1 (TGF-β1) in Severe Asthma. 30903795 2019
CUI: C0004096
Disease: Asthma
Asthma
0.700 Biomarker disease BEFREE In the current study, we found that miR-448-5p was dramatically decreased in lung tissues of asthmatic mice and TGF-β1-stimulated bronchial epithelial cells. 30362537 2019
CUI: C0004096
Disease: Asthma
Asthma
0.700 Biomarker disease BEFREE Cryptotanshinone Attenuates Airway Remodeling by Inhibiting Crosstalk Between Tumor Necrosis Factor-Like Weak Inducer of Apoptosis and Transforming Growth Factor Beta 1 Signaling Pathways in Asthma. 31780948 2019
CUI: C0004096
Disease: Asthma
Asthma
0.700 AlteredExpression disease BEFREE Immunofluorescence showed that ROS and TGF-β1 expression was significantly increased in lung tissue from the OVA-induced asthma model. 30092299 2019
CUI: C0004096
Disease: Asthma
Asthma
0.700 Biomarker disease BEFREE It will further review the evidence demonstrating the extent to which IL-17A interacts with various immune factors, specifically TGF-β1, to contribute to ASM remodeling and altered function in T<sub>H</sub>17-driven endotypes of severe asthma. 30810068 2019
CUI: C0004096
Disease: Asthma
Asthma
0.700 Biomarker disease BEFREE The exhaled-TGF-β1 levels were significantly lower in those children with asthma exacerbation when compared to the stable asthmatic children (<i>p</i> = 0.0003).<b>Conclusion:</b> Our results suggest that TGF-β1 may play a role in suppressing airway reactivity and its deficiency is associated with asthma exacerbation.AbbreviationsACTAsthma control testAHRAirway hyper-reactivityASMAirway smooth muscleBALBronchoalveolar lavageELISAEnzyme-linked immunoassayEIBExercise-induced bronchospasmEBCExhaled breath condensateFEV1Forced expiratory volume in the first secondFEV1/FVCForced expiratory volume in the first second/forced vital capacityFEF25%-75%Forced expiratory flow, midexpiratory phaseGINAGlobal Initiative for Asthma(Ig)EImmunoglobulin EISAACInternational Study of Asthma and Allergies in ChildhoodIQRInterquartile rangeIL-10Interleukin-10TGF-β1Transforming growth factor-β1Treg cellsT regulatory cells. 31709879 2019