Associated Papers
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 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
Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.
von Scheidt M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Transient immune deficiency accompanied with homozygous CBL rare variant.
Morishita A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2023
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Karachaliou GS et al.
Bmc Cancer, 2022
Myeloid malignancies with translocation t(4;12)(q11-13;p13): molecular landscape, clonal hierarchy and clinical outcomes.
Parinet V et al.
Journal of Cellular and Molecular Medicine, 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
Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia-A Retrospective Analysis in 337 Patients.
Geissler K et al.
International Journal of Molecular Sciences, 2020
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S et al.
Human Mutation, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.
Strullu M et al.
Leukemia, 2013
Activating CBL mutations are associated with a distinct MDS/MPN phenotype.
Schwaab J et al.
Annals of Hematology, 2012
Genomic characterisation of acral melanoma cell lines.
Furney SJ et al.
Pigment Cell & Melanoma Research, 2012
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
Pérez B et al.
Journal of Medical Genetics, 2010
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.
Grand FH et al.
Blood, 2009