ArticleProceedings of the National Academy of Sciences of the United States of America1994
Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 186 citations in OpenAlex.
- Trial
- Integrating respiratory microbiome and host immune response through machine learning for respiratory tract infection diagnosis.NPJ biofilms and microbiomes · 2024Article
- Identification of stress-related genes by co-expression network analysis based on the improved turbot genome.Scientific data · 2022Article
- Article
- The Hematopoietic Bone Marrow Niche Ecosystem.Frontiers in cell and developmental biology · 2021Review
- Splicing factor SRSF2-centric gene regulation.International journal of biological sciences · 2021Review
- Cooperating, congenital neutropenia-associated Csf3r and Runx1 mutations activate pro-inflammatory signaling and inhibit myeloid differentiation of mouse HSPCs.Annals of hematology · 2020Article
- Cytokine receptor splice variants in hematologic diseases.Cytokine · 2020Review
- Identification of novelCold Spring Harbor molecular case studies · 2018Review
- Proliferation and Differentiation of Murine Myeloid Precursor 32D/G-CSF-R Cells.Journal of visualized experiments : JoVE · 2018Article
- Chronic neutrophilic leukemia: new science and new diagnostic criteria.Blood cancer journal · 2018Review
- Article
- Severe congenital neutropenias.Nature reviews. Disease primers · 2017Review
- A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA.The Journal of biological chemistry · 2017Article
- Genomics of chronic neutrophilic leukemia.Blood · 2017Review
- G-CSF and GM-CSF in Neutropenia.Journal of immunology (Baltimore, Md. : 1950) · 2015Review
- Chronic neutrophilic leukemia: a clinical perspective.OncoTargets and therapy · 2015Review
- Article
- Alternatively spliced, truncated GCSF receptor promotes leukemogenic properties and sensitivity to JAK inhibition.Leukemia · 2014Article
- Systems approach to phagocyte production and activation: neutrophils and monocytes.Advances in experimental medicine and biology · 2014Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Severe congenital neutropenia (Kostmann syndrome) is characterized by profound absolute neutropenia and a maturation arrest of marrow progenitor cells at the promyelocyte-myelocyte stage. Marrow cells from such patients frequently display a reduced responsiveness to granulocyte-colony-stimulating factor (G-CSF). G-CSF binds to and activates a specific receptor which transduces signals critical for the proliferation and maturation of granulocytic progenitor cells. Here we report the identification of a somatic point mutation in one allele of the G-CSF receptor gene in a patient with severe congenital neutropenia. The mutation results in a cytoplasmic truncation of the receptor. When expressed in murine myeloid cells, the mutant receptor transduced a strong growth signal but, in contrast to the wild-type G-CSF receptor, was defective in maturation induction. The mutant receptor chain may act in a dominant negative manner to block granulocytic maturation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.