SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE KEY POINTS: A rare exon 18 epidermal growth factor receptor mutation with sensitivity to afatinib is reported.Small cell transformation was observed at tumor progression.Acquisition of a SMAD4 mutation was observed at tumor progression. 30413663 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE SMAD4 is a common signaling during tumor progression, and it can inhibit cell proliferation and promote cell motility in most epithelial cells. 30745456 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE Functional analysis through shRNA-mediated stable knockdown of SMAD4 in microglia revealed the downregulation of the expression of matrix metalloproteinase 9 (MMP9), which has been shown to be involved in tumor progression and cell migration. 29861845 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Smad4 is a critical factor in the TGF-β pathway and is involved in tumor progression and metastasis, but the role of Smad4 in colon cancer cells is unclear. 28445620 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE In this study, we examined Smad4 and Smad7 expression in gastric carcinomas to elucidate their role in tumor progression. 24659668 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Additionally, an immunohistochemical analysis for abnormalities in the expression of five molecular parameters: MUC1, p16, p53, Smad4 and sonic hedgehog, which are associated with tumor progression, was performed. 24297432 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Smad4 is involved in cancer progression and metastasis. 20797318 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Here, SMAD4 immunohistochemistry as a marker of SMAD4 gene status and the role of SMAD4 in the adenoma-carcinoma sequence in neoplastic progression in JPS are studied. 20682711 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE These observations indicate that Smad4/Pten-mutant mice mimic the tumor progression of human pancreatic cancers that are driven by activation of the AKT-mTOR pathway, and uncovered a synergistic action of Smad4 and Pten in repressing pancreatic tumorigenesis. 19901970 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE Chromosomal loss within the region of 18q and loss of SMAD4 expression have been reported to be frequent somatic events during colorectal cancer tumour progression; however, their associations with age at onset have not been widely studied. 19183329 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE High frequent G>T transversions in APC and KRAS2 (mutated in early tumour development) but not in P53 and SMAD4 (implicated in tumour progression) might indicate a predominant MUTYH effect in early carcinogenesis. 19527492 2009
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE RNF11 acts directly on Smad4 to enhance Smad4 function, and plays a role in prolonged TGF-beta signalling and possibly in latent tumour progression. 19528490 2009
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Deleted in pancreatic carcinoma locus 4 influences tumorigenesis and tumor progression by various mechanisms, including apoptosis. 18620728 2008
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE CTGF is induced by TGFbeta in diverse cell types, but TGFbeta receptor mediated signaling is impaired in pancreatic cancers and cell lines, usually due to DPC4/Smad4 mutations which arise during the later stages of intraepithelial neoplastic progression. 17786299 2007
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE Differences in allelic imbalance (AI) and mutations of the SMAD4/DPC4 gene between diploid and aneuploid populations were analyzed for 30 sporadic DNA multiploid colorectal carcinomas (used as a tumor progression model and defined as the coexistence of diploid and aneuploid cells within the same tumor). 16082587 2005
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE Inactivation of the DPC4 gene occurs late in the neoplastic progression of pancreatic carcinoma. 14607700 2002
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE Loss of expression of Dpc4 in pancreatic intraepithelial neoplasia: evidence that DPC4 inactivation occurs late in neoplastic progression. 10766191 2000
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE TGF-beta is a potent inhibitor of the growth of epithelial cells; thus, it has been assumed that loss of Smad4 during tumor progression relieves this inhibition. 10944227 2000