Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling
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Summary
These data provide a basis for further investigating of only partially characterized hematological alterations present in children suffering from RASopathies, and may provide new markers for progression toward malignant MPD in these patients.
- Type
- article
- Published
- 2015-07-01
- Cited by
- 4
- References
- 34
- Access
- Open access
- OpenAlex
- https://openalex.org/W1601459982
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:19020613
Keywords
Juvenile myelomonocytic leukemia, Costello syndrome, Noonan syndrome, Biology, Internal medicine
References
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- RAS diseases in children
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- Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
- Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
- Germ-line and somatic PTPN11 mutations in human disease.
- Negative Regulation of Stat3 by Activating PTPN11 Mutants Contributes to the Pathogenesis of Noonan Syndrome and Juvenile Myelomonocytic Leukemia*
- Mouse model of Noonan syndrome reveals cell type– and gene dosage–dependent effects of Ptpn11 mutation
- Validation of flow cytometric phospho-STAT5 as a diagnostic tool for juvenile myelomonocytic leukemia
- Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis
- Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells.
- Protein Tyrosine Phosphatase SHP-2 (PTPN11) in Hematopoiesis and Leukemogenesis
- A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.
- Malignant Diseases in Noonan Syndrome and Related Disorders
- An unexpected new role of mutant Ras: perturbation of human embryonic development
- Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis.
- Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
Cited by
- The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms
- CanCHD Study of Hematopoietic Cancers in Children With and Without Genetic Syndromes
- 5TH EDITION OF THE WORLD HEALTH ORGANIZATION CLASSIFICATION OF TUMORS OF THE HEMATOPOIETIC AND LYMPHOID TISSUES.
- Combined HRAS and NRAS ablation induces a RASopathy phenotype in mice
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