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PMID:22316667
| Citation |
Carr, JC, Dahdaleh, FS, Wang, D and Howe, JR (2012) Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. J. Surg. Res. 174:211-4 |
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| Abstract |
Juvenile polyposis (JP) is an autosomal dominant disease that predisposes to GI malignancies. Germline mutations in the tumor suppressor gene SMAD4 account for approximately 20% of JP cases. SMAD4 is the common intracellular mediator of the TGF-β and bone morphogenetic protein (BMP) pathways. Since mutations in BMP receptor 1A also cause JP, we hypothesize that altered BMP signaling is the underlying defect in JP. We therefore set out to investigate the effect of SMAD4 mutations on BMP signaling. |
| Links |
PubMed PMC3418515 Online version:10.1016/j.jss.2011.11.008 |
| Keywords |
Bone Morphogenetic Proteins/metabolism; Germ-Line Mutation; HEK293 Cells; Humans; Intestinal Polyposis/congenital; Intestinal Polyposis/genetics; Intestinal Polyposis/metabolism; Signal Transduction; Smad4 Protein/genetics |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0035556: intracellular signal transduction |
ECO:0000315: |
P |
SMAD4 Mutations result in in disruption of BMP signaling. Using samples obtained from human JP samples, followed by PCR & SDM, mutants activity (as assayed by Luciferase, see Figure 1) was much lower then WT, confirming the hypothesis of mutated SMAD signaling being a key component of JP patients. |
complete | ||||
|
involved_in |
GO:0035556: intracellular signal transduction |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
See also
References
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