SMAD4


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SMAD4

A gene on chromosome 18q21.1 that encodes a SMAD family protein, named for their similarity to the Drosophila gene Mothers Against Decapentaplegic (MAD), which are signal transducers and transcription modulators of multiple signalling pathways. SMAD4 forms homomeric complexes and heteromeric complexes with other activated SMADs; these accumulate in the nucleus and regulate target gene transcription. SMAD4 binds to DNA and recognizes an 8-bp palindromic sequence, the SMAD-binding element (SBE).
 
Molecular pathology
SMAD4 mutations or deletions are linked to hereditary haemorrhagic telangiectasia syndrome, juvenile polyposis syndrome and pancreatic cancer.
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While SOVA can be congenital or acquired (8, 9), this patient demonstrated no known aortopathy-associated genetic mutations in a specific limited aortopathy panel (ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2; aortopathy panel performed by ARUP Laboratories, Salt Lake City, Utah) (10).
Unruptured sinus of Valsalva aneurysm presenting with concurrent Morgagni hernia
Methods: TGF-[beta]1 and atrogin-1 expression was evaluated by RT-qPCR and/or ELISA; Smad3 phosphorylation by western blot; Smad4 nuclear translocation by indirect immunofluorescence; and ROS levels by DCF probe fluorescent measurements.
Apocynin inhibits the upregulation of TGF-[beta]1 expression and ROS production induced by TGF-[beta] in skeletal muscle cells
The current NeoGenomics offering includes individual gene testing of BRCA1, BRCA2, MLH1, MSH2, EPCAM, MSH6, PMS2 genes as well as a comprehensive 73 gene panel that includes the following genes: AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, DKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, EPCAM, ETV6, FAM175A, GALNT12, GATA2, GEN1, GREM1, HOXB13, KLLN, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, NBN, NTRK1, PALB2, PIK3CA, PMS2, POLD1, POLE, PPM1D, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, RUNX1, SDHB, SDHC, SDHD, SMAD4, STK11, TERC, TERT, TP53, TP53BP1, VHL, WT1, XRCC2.
NeoGenomics Launches Germline Cancer Predisposition Testing
Our study also demonstrated that this group has mutations in the TP53 and SMAD4 genes.
Molecular profiling of appendiceal epithelial tumors using massively parallel sequencing to identify somatic mutations
They found mutations in the genes TP53 and SMAD4 within oesophageal tumours, offering a way of identifying those patients in which Barrett's
Southampton Varsity discovers mutations that can cause oesophageal cancer
Three main causative genes are known: ENG, ACVRL1 and SMAD4.
Hereditary haemorrhagic telangiectasia in North African and sub-Saharan patients
Allelotype analysis of the PTEN, Smad4 and DCC genes in biliary tract cancer.
The expression of PTEN is associated with improved prognosis in patients with ampullary adenocarcinoma after pancreaticoduodenectomy
Through functional studies and cross-species comparisons of genes found in mice, the researchers found that the progression of prostate cancer can be controlled by inactivation of the genes Smad4 and Pten and activation of the genes cyclinD1 and Spp1.
Mouse studies suggest prognostic test for prostate cancer
The liver-specific knockout of smad4 abrogates hepcidin gene transcription resulting in iron overloading (44).
Iron transport & homeostasis mechanisms: their role in health & disease
A nearby gene called SMAD4 bias been suggested as the critical tumor suppressor gene in this region.
Loss of heterozygosity for chromosome 18q and microsatellite instability are highly consistent across the region of the DCC and SMAD4 genes in colorectal carcinomas and adenomas
The test identified a total of 214 driver mutations (including multiple mutations in well-known cancer genes such as TP53, STK11, APC, CDH1, ATM, GNAS, SMAD4, PIK3CA, KIT, MDM2 and CDKN2A), of which only 37 (17.
Foundation Medicine Announces Results Using Next-Generation Sequencing to Detect Cancer-Associated Mutations in Routine Cancer Tissue Samples; Data Presented at ASCO
Twenty-four of 47 genes tested had mutations, with the highest rates of mutation observed in TP53 (28%), KRAS (18%), isocitrate dehydrogenase 1 (IDH1, 9%), and SMAD4 (6%).
Caris Life Sciences' Multiplatform Tumor Profiling of Hepatocellular and Biliary Tract Carcinomas Yields Insights into Novel and Conventional Therapeutic Options

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