Associated Papers
Beyond colonoscopy, faecal DNA mutation screening provides a potential and viable path to early colorectal cancer detection.
Alfaro-Núñez A et al.
Scientific Reports, 2025
41390520 (PubMed )
Supplement: 41598_2025_30802_MOESM4_ESM.xlsx › Variant
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
Clinical and functional characterisation of the SMAD4 germline variant c.1035C > A in a family with juvenile polyposis syndrome by whole-exome sequencing.
Dang Y et al.
Medical Molecular Morphology, 2023
A rare cause of steroid-resistant nephrotic syndrome - a case report.
Kuran P et al.
Central-european Journal of Immunology, 2023
NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.
Ramakrishnan G et al.
Cell Reports, 2022
36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4
PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.
Stein A et al.
Journal for Immunotherapy of Cancer, 2021
34315821 (PubMed )
Supplement: jitc-2021-002844supp002.xlsx › Supplementary_Table_S3
Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms.
Yu J et al.
Gut, 2017
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
Carr JC et al.
The Journal of Surgical Research, 2012
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
Calva-Cerqueira D et al.
Clinical Genetics, 2009
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
Howe JR et al.
Journal of Medical Genetics, 2004
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
Sayed MG et al.
Annals of Surgical Oncology, 2002
Select a paper to view details