Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 - sprookjes - yvandenbroek - TriplyDB

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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Gfi1 coordinates epigenetic repression of p21Cip/WAF1 by recruitment of histone lysine methyltransferase G9a and histone deacetylase 1 A role of Miz-1 in Gfi-1-mediated transcriptional repression of CDKN1A JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia Ajuba functions as a histone deacetylase-dependent co-repressor for autoregulation of the growth factor-independent-1 transcription factor Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5 Dual roles for MEF2A and MEF2D during human macrophage terminal differentiation and c-Jun expression Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase The transcriptional repressor GFI-1 antagonizes PU.1 activity through protein-protein interaction Targeted transcriptional repression of Gfi1 by GFI1 and GFI1B in lymphoid cells Digenic mutations in severe congenital neutropenia A syndrome with congenital neutropenia and mutations in G6PC3 Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene Can mutations in ELA2, neutrophil elastase expression or differential cell toxicity explain sulphasalazine-induced agranulocytosis?From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation Congenital defects in neutrophil dynamics Growth factor independence 1b (gfi1b) is important for the maturation of erythroid cells and the regulation of embryonic globin expression Neutrophils: Between host defence, immune modulation, and tissue injury α1Proteinase inhibitor regulates CD4+ lymphocyte levels and is rate limiting in HIV-1 disease Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.Growth factor independence 1 antagonizes a p53-induced DNA damage response pathway in lymphoblastic leukemia.Congenital neutropenia: diagnosis, molecular bases and patient management.Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia GFI1B mutation causes a bleeding disorder with abnormal platelet function.Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.PRDM Proteins: Molecular Mechanisms in Signal Transduction and Transcriptional Regulation.Inherited biallelic CSF3R mutations in severe congenital neutropenia.The transcription factor Gfi1 regulates G-CSF signaling and neutrophil development through the Ras activator RasGRP1.Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry.Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia.Repression of Id2 expression by Gfi-1 is required for B-cell and myeloid development Gfi-1 regulates the erythroid transcription factor network through Id2 repression in murine hematopoietic progenitor cells.Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases.The functional significance of common polymorphisms in zinc finger transcription factors Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma.Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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description

2003 nî lūn-bûn

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2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2003 թվականի հուլիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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type

label

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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prefLabel

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

@en

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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Nature Genetics

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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Betty Nakamoto

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Christina Kaufman

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Feng-Qian Li

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George Eliopoulos

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Helen A Papadaki

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Jeremy Wechsler

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Kathleen F Benson

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Richard E Person

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Salvatore J Bertolone

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Thalia Papayannopoulou

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P2860

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

Progression of interleukin-2 (IL-2)-dependent rat T cell lymphoma lines to IL-2-independent growth following activation of a gene (Gfi-1) encoding a novel zinc finger protein

Gfi-1 encodes a nuclear zinc finger protein that binds DNA and functions as a transcriptional repressor

Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis

The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Targets of the transcriptional repressor oncoprotein Gfi-1.

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308-12

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2380008

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10.1038/NG1170

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3

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34

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H. Leighton Grimes

Marshall Horwitz

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2003-07-01T00:00:00Z

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10733346

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12778173

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2832179

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