Associated Papers
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.
Vatovec T et al.
Nature Immunology, 2026
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 2025
Locking CBL TKBD in its native conformation presents a novel therapeutic opportunity in mutant CBL-dependent leukemia.
Ahmed SF et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.
Mosnier C et al.
Blood Advances, 2025
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J et al.
The Journal of Clinical Investigation, 2024
Clinical and molecular features of CBL-mutated juvenile myelomonocytic leukemia.
Yoshida T et al.
Haematologica, 2023
CNL and aCML should be considered as a single entity based on molecular profiles and outcomes.
Carreño-Tarragona G et al.
Blood Advances, 2023
Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.
Yun J et al.
Human Genomics, 2023
Transient immune deficiency accompanied with homozygous CBL rare variant.
Morishita A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2023
Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.
Lemoine S et al.
Haematologica, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.
González-López O et al.
Cancers, 2022
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
Role of CBL Mutations in Cancer and Non-Malignant Phenotype.
Leardini D et al.
Cancers, 2022
Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.
Hecht A et al.
Haematologica, 2022
Genetic and epigenetic characterization of posterior pituitary tumors.
Schmid S et al.
Acta Neuropathologica, 2021
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.
Byrjalsen A et al.
Familial Cancer, 2021
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review.
Cardoso L et al.
Clinical Case Reports, 2021
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
E3 ligase-inactivation rewires CBL interactome to elicit oncogenesis by hijacking RTK-CBL-CIN85 axis.
Ahmed SF et al.
Oncogene, 2021
Spectrum of gene mutations identified by targeted next-generation sequencing in Chinese leukemia patients.
Yao H et al.
Molecular Genetics & Genomic Medicine, 2020
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
Rotunno M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.
Egan C et al.
Haematologica, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Clonal hematopoiesis and risk of acute myeloid leukemia.
Young AL et al.
Haematologica, 2019
Prediction of acute myeloid leukaemia risk in healthy individuals.
Abelson S et al.
Nature, 2018
A case of splenomegaly in CBL syndrome.
Coe RR et al.
European Journal of Medical Genetics, 2017
Casitas B-lineage lymphoma linker helix mutations found in myeloproliferative neoplasms affect conformation.
Buetow L et al.
Bmc Biology, 2016
Age-related mutations and chronic myelomonocytic leukemia.
Mason CC et al.
Leukemia, 2016
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Pathak A et al.
Human Genetics, 2015
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
Bülow L et al.
American Journal of Medical Genetics. Part A, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.
Pérez B et al.
British Journal of Haematology, 2010
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM et al.
Nature Genetics, 2010
Cbl and human myeloid neoplasms: the Cbl oncogene comes of age.
Kales SC et al.
Cancer Research, 2010
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
Loh ML et al.
Blood, 2009