Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia
about
Chronic neutrophilic leukemia: a clinical perspectiveG-CSF and GM-CSF in NeutropeniaOncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CMLAML1 interconnected pathways of leukemogenesisG-CSFR ubiquitination critically regulates myeloid cell survival and proliferation.Inherited biallelic CSF3R mutations in severe congenital neutropenia.Granulocyte colony-stimulating factor: molecular mechanisms of action during steady state and 'emergency' hematopoiesis.Congenital bone marrow failure syndromes.Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.Signaling by chimeric erythropoietin-TGF-beta receptors: homodimerization of the cytoplasmic domain of the type I TGF-beta receptor and heterodimerization with the type II receptor are both required for intracellular signal transduction.Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia.Control of hematopoietic differentiation: lack of specificity in signaling by cytokine receptors.Defective gp130-mediated signal transducer and activator of transcription (STAT) signaling results in degenerative joint disease, gastrointestinal ulceration, and failure of uterine implantationNovel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.Neutrophils influence the level of antigen presentation during the immune response to protein antigens in adjuvants.EUDRAGENE: European collaboration to establish a case-control DNA collection for studying the genetic basis of adverse drug reactions.Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene.Role of the proteasome in modulating native G-CSFR expression.Mendelian forms of periodontitis.Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Homeostatic regulation of blood neutrophil counts.Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia.Mathematical modeling as a tool for planning anticancer therapy.Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS.Hematopoietic stem cell transplantation for severe congenital neutropenia.Human cathelicidin LL-37 prevents bacterial biofilm formation.Systems approach to phagocyte production and activation: neutrophils and monocytes.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.Genomics of chronic neutrophilic leukemia.Alternatively spliced, truncated GCSF receptor promotes leukemogenic properties and sensitivity to JAK inhibition.Severe congenital neutropenias.Multiple pathways contribute to the hyperproliferative responses from truncated granulocyte colony-stimulating factor receptors.Cytokine receptor genes: structure, chromosomal location, and involvement in human disease.PU.1 regulates the CXCR1 promoter.Tyrosine residues in the granulocyte colony-stimulating factor (G-CSF) receptor mediate G-CSF-induced differentiation of murine myeloid leukemic (M1) cells.Enhanced MAPK signaling is essential for CSF3R-induced leukemia.The granulocyte colony-stimulating factor receptor and its role in disorders of granulopoiesis.Immunodeficiencies and haematological disorders--direct connections to cellular signalling pathways.Neutrophil elastase downmodulates native G-CSFR expression and granulocyte-macrophage colony formation.Novel variant isoform of G-CSF receptor involved in induction of proliferation of FDCP-2 cells: relevance to the pathogenesis of myelodysplastic syndrome.
P2860
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P2860
Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia
description
1994 nî lūn-bûn
@nan
1994 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年学术文章
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1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
name
Identification of a nonsense m ...... severe congenital neutropenia
@ast
Identification of a nonsense m ...... severe congenital neutropenia
@en
Identification of a nonsense m ...... severe congenital neutropenia
@nl
type
label
Identification of a nonsense m ...... severe congenital neutropenia
@ast
Identification of a nonsense m ...... severe congenital neutropenia
@en
Identification of a nonsense m ...... severe congenital neutropenia
@nl
prefLabel
Identification of a nonsense m ...... severe congenital neutropenia
@ast
Identification of a nonsense m ...... severe congenital neutropenia
@en
Identification of a nonsense m ...... severe congenital neutropenia
@nl
P2093
P2860
P356
P1476
Identification of a nonsense m ...... severe congenital neutropenia
@en
P2093
A J Veerman
A M Schelen
B Löwenberg
C A Broeders
L H Hoefsloot
P2860
P304
P356
10.1073/PNAS.91.10.4480
P407
P577
1994-05-10T00:00:00Z