Associated Papers
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Gheewalla GM et al.
American Journal of Medical Genetics. Part A, 2022
Side-by-side comparison of next-generation sequencing, cytology, and histology in diagnosing locally advanced pancreatic adenocarcinoma.
Carrara S et al.
Gastrointestinal Endoscopy, 2021
Point mutations in the tumor suppressor Smad4/DPC4 enhance its phosphorylation by GSK3 and reversibly inactivate TGF-β signaling.
Demagny H et al.
Molecular & Cellular Oncology, 2016
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Gallione C et al.
American Journal of Medical Genetics. Part A, 2010
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