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SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
BackgroundJuvenile polyposis syndrome (JPS), a rare autosomal dominant syndrome, affects one per 100 000 births, increasing lifetime cancer risk by 9...
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SMAD4 endows TGF-β1-induced highly invasive tumor cells with ferroptosis vulnerability in pancreatic cancer
Pancreatic ductal adenocarcinoma (PDAC) is an extremely aggressive malignancy prone to recurrence and metastasis. Studies show that tumor cells with...
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GATA2 co-opts TGFβ1/SMAD4 oncogenic signaling and inherited variants at 6q22 to modulate prostate cancer progression
BackgroundAberrant somatic genomic alteration including copy number amplification is a hallmark of cancer genomes. We previously profiled genomic...
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Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort
Constitutional loss of SMAD4 function results in Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia Overlap Syndrome (JP-HHT). A retrospective...
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SMAD4–201 transcript as a putative biomarker in colorectal cancer
BackgroundTranscripts with alternative 5′-untranslated regions (UTRs) result from the activity of alternative promoters and they can determine gene...
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Spatiotemporal modulation of SMAD4 by HBx is required for cellular proliferation in hepatitis B-related liver cancer
PurposeHepatitis B virus (HBV) plays a crucial role in the progression of hepatocellular carcinoma (HCC). It is known that HBV-encoded X protein...
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SMAD4 Gene Analysis in Patients with Early Onset Colorectal Cancer: A Pilot Study
AbstractIn colorectal cancer (CRC), inactivation of SMAD4 occurs early in the disease development and SMAD4 represents one of key driver genes in...
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Selective targeting BMP2 and 4 in SMAD4 negative esophageal adenocarcinoma inhibits tumor growth and aggressiveness in preclinical models
PurposeAbnormalities within the Sonic Hedgehog (SHH), Bone Morphogenetic Protein (BMP) and SMAD4 signalling pathways have been associated with the...
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HPV-mediated regulation of SMAD4 modulates the DNA damage response in head and neck cancer
BackgroundHead and Neck cancer (HNC) is a fatal malignancy with poor prognosis. Human Papillomavirus (HPV) infection is becoming the prominent cause...
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Large-Scale Proteomics Data Reveal Integrated Prognosis-Related Protein Signatures and Role of SMAD4 and RAD50 in Prognosis and Immune Infiltrations of Prostate Cancer Microenvironment
As prostate cancer (PCa) is one of the most commonly diagnosed cancer worldwide, identifying potential prognostic biomarkers is crucial. In this...
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Statin use is associated with a reduced incidence of colorectal cancer expressing SMAD4
BackgroundLong-term use of statins is associated with a small reduced risk of colorectal cancer but their mechanism of action is not well understood....
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Silencing of UBE2D1 inhibited cell migration in gastric cancer, decreasing ubiquitination of SMAD4
BackgroundGastric cancer (GC) is the second leading cause of cancer-related deaths. Because it is hard to diagnose at early stage, the overall...
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Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants
Juvenile polyposis (JP) is a rare familial syndrome characterized by the development of numerous hamartomatous polyps of the gastrointestinal tract...
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SMAD4 haploinsufficiency in small intestinal neuroendocrine tumors
BackgroundPatients with small intestinal neuroendocrine tumors (SINETs) frequently present with lymph node and liver metastases at the time of...
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Circular RNA hsa_circ_0004872 inhibits gastric cancer progression via the miR-224/Smad4/ADAR1 successive regulatory circuit
BackgroundEmerging evidence has shown that circular RNAs (circRNAs) play a crucial regulatory role in the occurrence and development of cancer....
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LncRNA NEAT1 promotes proliferation, migration, invasion and epithelial-mesenchymal transition process in TGF-β2-stimulated lens epithelial cells through regulating the miR-486-5p/SMAD4 axis
BackgroundAbnormal proliferation, metastasis and epithelial-mesenchymal transformation (EMT) of lens epithelial cells (LECs) are direct factors of...
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MiR-146a reduces fibrosis after glaucoma filtration surgery in rats
PurposeTo explore the impact of microRNA 146a (miR-146a) and the underlying mechanisms in profibrotic changes following glaucoma filtering surgery...
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SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity
Spalt-like transcription factor 1 (SALL1) is a critical regulator of organogenesis and microglia identity. Here we demonstrate that disruption of a...
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Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juvenile polyps and increased...
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SMAD4 Y353C promotes the progression of PDAC
BackgroundSMAD4 is frequently inactivated and associated with a poor prognosis in pancreatic ductal adenocarcinoma (PDAC). Abnormal SMAD4 expression...
