Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

doi:10.1038/ng.641

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Nature genetics - 1 Sept 2010

Niemeyer Charlotte M, Kang Michelle W, Shin Danielle H, Furlan Ingrid, Erlacher Miriam, Bunin Nancy J, Bunda Severa, Finklestein Jerry Z, Gorr Thomas A, Mehta Parinda, Schmid Irene, Kropshofer Gabriele, Corbacioglu Selim, Lang Peter J, Klein Christoph, Schlegel Paul-Gerhard, Heinzmann Andrea, Schneider Michaela, Starý Jan, van den Heuvel-Eibrink Marry M, Hasle Henrik, Locatelli Franco, Sakai Debbie, Archambeault Sophie, Chen Leslie, Russell Ryan C, Sybingco Stephanie S, Ohh Michael, Braun Benjamin S, Flotho Christian, Loh Mignon L

Abstract excerpt

CBL encodes a member of the Cbl family of proteins, which functions as an E3 ubiquitin ligase. We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juven...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cryptorchidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to DNA Mutational Analysis

Share to Germ-Line Mutation

Share to Infant

Share to Infant, Newborn

Share to Leukemia, Myelomonocytic, Juvenile

Share to Proto-Oncogene Proteins c-cbl

Source

Open in PubMed Open full text

Identifiers

PMID: 20694012
DOI: 10.1038/ng.641
PMCID: PMC4297285

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20694012-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.PMID 20694012Read ↗

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.Semantic proximity Read ↗

Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.Semantic proximity Read ↗

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.Semantic proximity Read ↗

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Semantic proximity Read ↗

RAS diseases in children.Semantic proximity Read ↗

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.Semantic proximity Read ↗

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.Semantic proximity Read ↗

CBL mutations in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndromeSemantic proximity Read ↗

VAV1-Cre mediated hematopoietic deletion of CBL and CBL-B leads to JMML-like aggressive early-neonatal myeloproliferative disease.Semantic proximity Read ↗

Mutant Cbl proteins as oncogenic drivers in myeloproliferative disordersSemantic proximity Read ↗

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.Semantic proximity Read ↗

CBL Syndrome With Granular Cell Tumor and café au lait macules: Expansion of the Phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.