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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE Inter- and intra-tumor heterogeneity of SMAD4 loss in head and neck squamous cell carcinomas. 30575147 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE We used mouse SCC cells derived from tumors harboring a Kras<sup>G12D</sup> activation mutation and Smad4 deletion in keratin 15-positive stem cells and a human oral SCC cell line, FaDu, which has <i>NRAS</i> amplification and <i>SMAD4</i> deletion. 31189369 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE Disulfiram inhibits epithelial-mesenchymal transition through TGFβ-ERK-Snail pathway independently of Smad4 to decrease oral squamous cell carcinoma metastasis. 31118804 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE Altogether, SMAD4 loss is a potential biomarker in SCCs that should be further studied for its values in prognostic and therapeutic predictions. 31140647 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE Among TGF-β/Smad signaling, only TGF-βRII or Smad4 deletion in mouse epithelium causes spontaneous SCC in the mouse model, highlighting the critical roles of TGF-βRII and Smad4 in tumor suppression. 29206939 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE Thus, Smad4-mediated signaling is required to initiate epithelial carcinogenesis subsequent to <i>TGFBR2</i> deletion in FSP1<sup>+</sup> fibroblasts.<b>Implications:</b> These findings reveal a complex cross-talk between epithelial cells and the stroma, wherein Smad4 is required to elicit squamous cell carcinomas in the forestomach of mice with <i>TGFBR2</i>-deficient stromal cells.<i></i>. 29934328 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease BEFREE Moreover, the expression of TGF‑β1 and SMAD4 proteins was elevated in cervical squamous carcinoma and cervical adenocarcinoma tissues. 27748903 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE Here, we established a mouse model by injecting tumor cells derived from primary SCCs harboring KrasG12D mutation and Smad4 deletion into wild-type (wt) or CD8-/- recipients. 27835902 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE We developed a mouse model of SCC by targeting two frequent genetic mutations in human SCCs, oncogene Kras(G12D) activation and Smad4 deletion, to mouse keratin 15-expressing (K15+) stem cells. 23999427 2013
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE For Smad4, statistical difference was observed only in SCC samples (p=0.014), but not in BCC and AK samples (p=0.173 and 0.314, respectively). 22301403 2012
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease BEFREE We show equal detection of a homozygous loss of SMAD4 at the exon-level in the SW480 cell line and gene-specific alterations in the split tumor samples. aCGH application to a set of archival FFPE samples of skin squamous cell carcinomas detected a novel hemizygous deletion in INPP5A on 10q26.3. 19875416 2010
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE FaDu, an invasive, Smad4-deficient SCC, also allowed 2kΔN transactivation by transfected Smad2 in the presence of endogenous IKKα. 21170261 2010
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE Importantly, the incidence of HGF-positive human SCC was high in cases with Smad2 loss and lower when Smad4 was also lost. 20852387 2010
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE In the present study, we found that Smad2 and Smad4, but not Smad3, were frequently lost in human SCCs. 18618014 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 GeneticVariation disease LHGDN Disruption of transforming growth factor beta-Smad signaling pathway in head and neck squamous cell carcinoma as evidenced by mutations of SMAD2 and SMAD4. 16478646 2007
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease LHGDN Aberrant expression of Smad4, a TGF-beta signaling molecule, in oral squamous cell carcinoma. 17023741 2006
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 AlteredExpression disease LHGDN Differences in Smad4 expression in human papillomavirus type 16-positive and human papillomavirus type 16-negative head and neck squamous cell carcinoma. 15867212 2005
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.100 Biomarker disease BEFREE Mechanisms of resistance to TGF-beta caused by modulation of cell cycle regulators and/or inactivation of components of the TGF-beta signaling transduction pathway such as C-myc and Smad4 have been demonstrated in human pancreatic cancer and squamous cell carcinoma cell lines. 10810347 2000