Associated Papers
Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations.
Tagore S et al.
Nature Genetics, 2026
Molecular insights into TGF-B signalling pathway disruption by non-synonymous SNPs variants in COPD: an in silico and molecular dynamics simulation study.
Mahajan N et al.
Journal of Biomolecular Structure & Dynamics, 2025
Decoding the functional impact of the cancer genome through protein-protein interactions.
Fu H et al.
Nature Reviews. Cancer, 2025
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.
Varghese AM et al.
Nature Medicine, 2025
Duodenal Foveolar Adenoma: Case Presentation with Whole Exome Sequencing and Review of the Literature.
Ferenczi Á et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2025
Multi-Omics Characterization of E3 Regulatory Patterns in Different Cancer Types.
Li Z et al.
International Journal of Molecular Sciences, 2024
Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.
Sini MC et al.
Journal of Translational Medicine, 2024
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
Genomics driven precision oncology in advanced biliary tract cancer improves survival.
Kumar-Sinha C et al.
Neoplasia (new York, N.y.), 2023
Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.
Haefliger S et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023
NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.
Ramakrishnan G et al.
Cell Reports, 2022
Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.
Chang YK et al.
International Journal of Molecular Sciences, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Systematic discovery of mutation-directed neo-protein-protein interactions in cancer.
Mo X et al.
Cell, 2022
Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach.
Ray M et al.
Genomics & Informatics, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Sirolimus for the Treatment of Juvenile Polyposis in Childhood.
Martín-Masot R et al.
Acg Case Reports Journal, 2021
High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.
Lee SE et al.
International Journal of Molecular Sciences, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
NTRK fusion in Japanese colorectal adenocarcinomas.
Yamashiro Y et al.
Scientific Reports, 2021
A pan-cancer analysis reveals nonstop extension mutations causing SMAD4 tumour suppressor degradation.
Dhamija S et al.
Nature Cell Biology, 2020
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Kang T et al.
Breast Cancer Research : Bcr, 2020
Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.
Li J et al.
Gut, 2020
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing.
Nemtsova MV et al.
Scientific Reports, 2020
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
The Discordance of Gene Mutations between Circulating Tumor Cells and Primary/Metastatic Tumor.
Wang Q et al.
Molecular Therapy Oncolytics, 2019
High Proportion of Potential Candidates for Immunotherapy in a Chilean Cohort of Gastric Cancer Patients: Results of the FORCE1 Study.
Cordova-Delgado M et al.
Cancers, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Targeted next-generation sequencing of well-differentiated rectal, gastric, and appendiceal neuroendocrine tumors to identify potential targets.
Park HY et al.
Human Pathology, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Appendix-derived Pseudomyxoma Peritonei (PMP): Molecular Profiling Toward Treatment of a Rare Malignancy.
Gleeson EM et al.
American Journal of Clinical Oncology, 2018
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
Hänninen UA et al.
Plos Genetics, 2018
Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.
Brannon AR et al.
Genome Biology, 2014
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.
Tørring PM et al.
Clinical Genetics, 2014
HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.
Lux A et al.
Orphanet Journal of Rare Diseases, 2013
SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.
Fleming NI et al.
Cancer Research, 2013
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V et al.
American Journal of Human Genetics, 2012
Endoscopic resection of a large duodenal hamartoma related to SMAD4-associated juvenile polyposis/hereditary hemorrhagic teleangiectasia syndrome.
Zimmer V et al.
The American Journal of Gastroenterology, 2011
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
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
Aretz S et al.
Journal of Medical Genetics, 2007
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Gallione CJ et al.
Lancet (london, England), 2004
Tumor-derived C-terminal mutations of Smad4 with decreased DNA binding activity and enhanced intramolecular interaction.
Kuang C et al.
Oncogene, 2004
Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis.
Burger B et al.
American Journal of Medical Genetics, 2002
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
Friedl W et al.
Human Genetics, 2002