Associated Papers
Bioinformatics-driven identification of pathogenic missense nsSNPs in the human proto-oncogene SRC and cancer susceptibility.
Ahamed MS et al.
Journal, Genetic Engineering & Biotechnology, 2025
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
Mapping human disease-associated enzymes into Reactome allows characterization of disease groups and their interactions.
Savojardo C et al.
Scientific Reports, 2022
Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease.
Palma-Barqueros V et al.
Blood Advances, 2022
Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.
Atmar K et al.
Frontiers in Immunology, 2022
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
Hemostatic phenotypes and genetic disorders.
Ver Donck F et al.
Research and Practice in Thrombosis and Haemostasis, 2021
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer.
Skopelitou D et al.
Journal of Personalized Medicine, 2021
Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC.
Barozzi S et al.
Haematologica, 2021
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Systematic response of staurosporine scaffold-based inhibitors to drug-resistant cancer kinase mutations.
He Y
Archiv Der Pharmazie, 2020
De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.
De Kock L et al.
Platelets, 2019
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe E et al.
British Journal of Haematology, 2017
Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.
Maclachlan A et al.
Platelets, 2017
Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.
Plo I et al.
Frontiers in Endocrinology, 2017
Molecular basis of inherited thrombocytopenias: an update.
Savoia A
Current Opinion in Hematology, 2016
Targeted next-generation sequencing detects a high frequency of potentially actionable mutations in metastatic breast cancers.
Muller KE et al.
Experimental and Molecular Pathology, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Turro E et al.
Science Translational Medicine, 2016
Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms.
Mackenzie R et al.
Bmc Cancer, 2015