|
Mucinous Adenocarcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The 10 cases of MACA harbored a similar prevalence of TP53 mutations (n=5, 50%) as HAMN but, unlike LAMN and HAMN, some harbored mutations in PIK3CA, APC, FBXW7, PTEN, and SMAD4.
|
31491041 |
2020 |
|
Polydactyly
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
They both had de novo c.1498A > G (p.Ile500Val) variant in SMAD4 and presented with key characteristics of Myhre syndrome but also revealed uncommon features (polydactyly in the girl and precocious puberty in the boy).
|
31654632 |
2020 |
|
Autoimmune Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
This study therefore elucidates critical mechanism for IL-21-induced Th17 differentiation to indicate SKI and SMAD4 as potential therapeutic targets for treating autoimmune diseases.
|
31398665 |
2019 |
|
Ulcerative Colitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Four SNPs (rs13381619, rs9955626, rs1792658, and rs1792671) within SMAD2, one SNP within SMAD3 (rs41473580" genes_norm="4087;4088;4089;4092">rs41473580), two SNPs within SMAD4 (rs7229678 and rs9304407), and one SNP within SMAD7 (rs12956924) were significantly associated with susceptibility only to UC. rs13381619 within SMAD2, rs4147358 within SMAD3, rs9304407 within SMAD4, and rs12956924 within SMAD7 exhibited the strongest association (p < 0.001, p = 0.021, p = 0.005, and p = 0.001, respectively).
|
30653987 |
2019 |
|
Genital Neoplasms, Female
|
0.010 |
Biomarker
|
group |
BEFREE |
A few studies have explored the value of immunohistochemistry for SMAD4 in gynecologic neoplasms, mainly in the ovary.
|
31569186 |
2019 |
|
Congenital Heart Defects
|
0.010 |
Biomarker
|
group |
BEFREE |
Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.
|
31229977 |
2019 |
|
Atrial Septal Defects
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.
|
31229977 |
2019 |
|
Monosomy
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We also found that aneuploidy (monosomy and polysomy) contributed greatly to how to define chromosomal SMAD4 deletion.
|
30575147 |
2019 |
|
Neurofibromatosis 1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The SMAD4 and BMPR1A genes that are involved in 50-60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1.
|
30276464 |
2019 |
|
Polycystic Ovary Syndrome
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In contrast to hGLCs from ovulatory ovaries, in PCOS AMH reduced protein levels (cell content) of stimulatory pSMAD-1/5/8 and SMAD-4 but increased inhibitory SMAD-6 and -7 (P < 0.05, normal n = 6, PCOS n = 3).
|
31735954 |
2019 |
|
Atrial Premature Complexes
|
0.010 |
Biomarker
|
disease |
BEFREE |
We sought to study the effect of locally delivered NO on GEM mediated PAC cytotoxicity and the potential role of SMAD4 in this effect.
|
30790060 |
2019 |
|
Schizophrenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Dysregulated Glial Differentiation in Schizophrenia May Be Relieved by Suppression of SMAD4- and REST-Dependent Signaling.
|
31242417 |
2019 |
|
Schizophrenia, Childhood
|
0.010 |
Biomarker
|
disease |
BEFREE |
SMAD4 knockdown (KD) suppressed the production of these BMP inhibitors by SCZ GPCs and rescued normal astrocytic differentiation.
|
31242417 |
2019 |
|
Cerebrovascular accident
|
0.010 |
Biomarker
|
group |
BEFREE |
Loss of Smad4 causes the formation of inappropriate, fragile connections between arteries and veins called arteriovenous malformations (AVMs), which can hemorrhage leading to stroke, aneurysm, or death.
|
30744395 |
2019 |
|
West Nile Fever
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
While LGP2 functions to modulate inflammatory signaling, RIG-I and MDA5 together are essential for M1 macrophage polarization in vivo and the control of WNV infection through potential downstream control of ATF4 and SMAD4 to regulate target gene expression for cell polarization.
|
31409781 |
2019 |
|
Dissection of aorta
|
0.010 |
Biomarker
|
disease |
BEFREE |
The expression of SMAD4 was modulated by miR-146a-5p. miR-146a-5p induced VSMC proliferation and migration through targeting SMAD4 and hence might be potentially involved in the development of AD.
|
30779466 |
2019 |
|
Atypical Endometrial Hyperplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings show a potential diagnostic role of this microRNAs signature for the accurate diagnosis of Endometrial hyperplasia with atypia/Endometrial Intraepithelial Neoplasia and improve the understanding of their pivotal role in SMAD4 regulation.
|
31293968 |
2019 |
|
Stromal Neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study, we demonstrate that in PDAC SMAD4 status and tumor stromal content can be predicted using radiomic analysis of preoperative CT imaging.
|
31243486 |
2019 |
|
Endometrial intraepithelial neoplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings show a potential diagnostic role of this microRNAs signature for the accurate diagnosis of Endometrial hyperplasia with atypia/Endometrial Intraepithelial Neoplasia and improve the understanding of their pivotal role in SMAD4 regulation.
|
31293968 |
2019 |
|
Intrauterine adhesions
|
0.010 |
Biomarker
|
disease |
BEFREE |
In addition, the injection of si-KDR increased the number of endometrial glands, reduced the area of fibrosis, inhibited mRNA and protein expression of KDR and VEGF, up-regulated the expression of MMP-9 and Smad7, and decreased the expression level of TGF-β1, p-Smad2, p-Smad3, and Smad4 in rats with IUA.
|
31596310 |
2019 |
|
Tubulointerstitial fibrosis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In summary, our data showed that autophagy in FOXD1-lineage stromal cells plays a protective role in renal TIF through regulating the Smad4 dependent TGF-β an NLRP3 inflammasome signaling pathway.
|
30545632 |
2019 |
|
Perihilar Cholangiocarcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Large-duct iCCA and pCCA more frequently had the loss of SMAD4 expression and MDM2 amplifications than small-duct iCCA, whereas the loss of BAP1 expression and IDH1 mutations were mostly restricted to small-duct iCCA.
|
30170977 |
2019 |
|
Mucinous colorectal carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Accordingly, KRAS (12/17, 70.6%), APC (6/17, 35.3%), SMAD4, TP53 (4/17, 23.5%, each), PIK3CA (3/17, 17.6%), AKT1, ATM, BRAF, EGFR, and EZH2 (1/17, 5.9%, each) were altered in MC.
|
31400926 |
2019 |
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Based on the clinical overlap of CM-AVM2 and HHT, we hypothesized that patients considered clinically suspicious for HHT with no variant detected in an HHT gene (ENG, ACVRL1, or SMAD4) may have an EPHB4 variant.
|
30760892 |
2019 |
|
Anaplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results indicate that SMAD4 functions to maintain differentiated enterocytes in the presence of oncogenic WNT signaling, thus preventing dedifferentiation and tumor formation in the differentiated intestinal epithelium.<b>Significance:</b> This work identifies a mechanism through which differentiated cells prevent tumor formation by suppressing oncogenic plasticity.<i></i>.
|
29986996 |
2018 |