|
LOEYS-DIETZ SYNDROME 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
|
22167769 |
2012 |
|
LOEYS-DIETZ SYNDROME 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
SMAD3 mutations were recently described in patients with aneurysms osteoarthritis syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers.
|
21778426 |
2011 |
|
LOEYS-DIETZ SYNDROME 3
|
0.760 |
Biomarker
|
disease |
BEFREE |
SMAD3 is subject to cis-acting regulatory polymorphism in the tissues of relevance to both primary osteoarthritis and the aneurysms-osteoarthritis syndrome.
|
24583347 |
2014 |
|
LOEYS-DIETZ SYNDROME 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
|
23554019 |
2013 |
|
LOEYS-DIETZ SYNDROME 3
|
0.760 |
Biomarker
|
disease |
BEFREE |
This finding demonstrates that haploinsufficiency of SMAD3 leads to development of both thoracic aortic aneurysms and dissections, and the skeletal abnormalities that form part of the aneurysms-osteoarthritis syndrome.
|
22803640 |
2013 |
|
LOEYS-DIETZ SYNDROME 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.
|
26221609 |
2015 |
|
Colorectal Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Additionally, miR-140 expression is decreased in the clinical primary CRC specimens and appears as a progressive reduction in the metastatic specimens, whereas Smad3 is overexpressed in the CRC samples.
|
29499953 |
2018 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Apc(Min/+)Smad3(-/-) mice provide an alternative model to Apc(Min/+) mice to study FAP and distal sporadic colorectal cancer.
|
16951153 |
2006 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
These findings suggest that the Smad3 gene may not play an important role in the tumorigenesis of colorectal cancers.
|
9464505 |
1998 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Taken together, we demonstrated that Kindlin-1 promotes CRC progression by recruiting SARA and Smad3 to TβRI and thereby activates TGF-β/Smad3 signaling.
|
27776350 |
2016 |
|
Colorectal Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
TIMP-1 expression in human colorectal cancer is associated with SMAD3 gene expression levels: a pilot study.
|
25532000 |
2014 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Smad3(-/-) mice are deficient in the transforming growth factor beta (TGFβ) signaling molecule, SMAD3, resulting in dysregulation of the cellular pathway most commonly affected in human colorectal cancer, and develop inflammation-associated colon cancer.
|
24244446 |
2013 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of the differential expression between carcinoma and normal mucosa showed that SMAD3 rs12708491 and rs2414937, NFκB1 rs230510 and rs3821958, and RUNX3 rs6672420 were associated with several miRNAs for colorectal carcinoma.
|
28061442 |
2017 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Starting with just one TF (SMAD3) in the bait list, the literature mining process identified an additional 116 CRC-associated TFs.
|
22852817 |
2012 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Other members of the SMAD family are excellent candidates for JPS, especially SMAD2 (which, like SMAD4, is mutated somatically in colorectal cancers), SMAD3 (which causes colorectal cancer when "knocked out" in mice), SMAD5, and SMAD1.
|
10446110 |
1999 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of SMAD4, SMAD2, and SMAD3 mutations in sporadic CRCs was 8.6% (64 of 744), 3.4% (25 of 744), and 4.3% (32 of 744), respectively.
|
23139211 |
2013 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
When assessed by a priori defined functional pathways, tumor growth factor β (TGFβ) signaling was associated with CRC risk (<i>P</i> ≤ 0.001), with most statistically significant genes being <i>SMAD7 (P<sub>BH</sub></i> = 0.008) and <i>SMAD3 (P<sub>BH</sub></i> = 0.008), and 18 SNPs in the vitamin D receptor (VDR) binding sites (<i>P</i> = 0.036).
|
31434255 |
2019 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Smad2 and Smad3 phosphorylated at both linker and COOH-terminal regions transmit malignant TGF-beta signal in later stages of human colorectal cancer.
|
19531654 |
2009 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Smad3-null mice develop colorectal cancer by 6 months of age.
|
22411066 |
2012 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this phenotypic alteration, it is well known that transforming growth factor (TGF)-β/Smad3 signaling is involved; however, there is emerging new data on Smad3 phosphoisoforms: Smad3 phosphorylated at linker regions (pSmad3L), COOH-terminal regions (pSmad3C), and both (pSmad3L/C). pSmad3L/C has a pathological role in colorectal cancer.
|
28877884 |
2017 |
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations can occur in the precursors, and the combined prevalence of SMAD4, SMAD2, and SMAD3 mutations was seen in up to 50% of CRCs.
|
28601657 |
2017 |
|
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this work, by deciphering the overlapping genes, crosstalking genes and pivotal regulators of both UC- and CRC-associated functional module pairs, we revealed a variety of genes (including FOS and DUSP1, etc.), transcription factors (including SMAD3 and ETS1, etc.) and miRNAs (including miR-155 and miR-196b, etc.) that may have the potential to complete the connections between UC and CRC.
|
26461477 |
2015 |
|
Loeys-Dietz Syndrome
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
In patient 1, the novel NM_005902.3 (SMAD3): c.840T > G; p.(Asn280Lys) likely pathogenic variant was identified, thus leading to a diagnosis of LDS type 3.
|
31326520 |
2019 |
|
Loeys-Dietz Syndrome
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
The patient's diagnosis became evident after clinical exome sequencing detected a novel missense mutation in the evolutionary conserved region of SMAD3, confirming the diagnosis of Loeys-Dietz syndrome (LDS) type 3.
|
26409702 |
2015 |
|
Loeys-Dietz Syndrome
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-β signaling, including either subunit of the TGF-β receptor or SMAD3, thereby engendering controversy regarding the mechanism of disease.
|
22772368 |
2012 |