Associated Papers
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.
Corso BM et al.
Molecular Syndromology, 2026
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2
Clinical and molecular features of CBL-mutated juvenile myelomonocytic leukemia.
Yoshida T et al.
Haematologica, 2023
37226702 (PubMed )
Supplement: 2022_282385_YOSHIDA_SUPPL_TABS2.xlsx › Sheet1
Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.
Garrote M et al.
Cancers, 2023
37568719 (PubMed )
Supplement: cancers-15-03904-s001.zip › cancers-2478235-supplementary.pdf
Transient immune deficiency accompanied with homozygous CBL rare variant.
Morishita A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2023
E3 ligase-inactivation rewires CBL interactome to elicit oncogenesis by hijacking RTK-CBL-CIN85 axis.
Ahmed SF et al.
Oncogene, 2021
Src-family kinase-Cbl axis negatively regulates NLRP3 inflammasome activation.
Chung IC et al.
Cell Death & Disease, 2018
Casitas B-lineage lymphoma linker helix mutations found in myeloproliferative neoplasms affect conformation.
Buetow L et al.
Bmc Biology, 2016
Balancing Protein Stability and Activity in Cancer: A New Approach for Identifying Driver Mutations Affecting CBL Ubiquitin Ligase Activation.
Li M et al.
Cancer Research, 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
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM et al.
Nature Genetics, 2010
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
Loh ML et al.
Blood, 2009
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