Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.
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Digenic mutations in severe congenital neutropeniaLEF-1 is a decisive transcription factor in neutrophil granulopoiesisCongenital neutropenia: diagnosis, molecular bases and patient management.Severe congenital neutropenia: genetics and pathogenesis.Neutrophil elastase in cyclic and severe congenital neutropenia.Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsCharacterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiologyThe risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.Inherited defects in lymphocyte cytotoxic activity.High-mobility group box 1, oxidative stress, and disease.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Advances in the understanding of Barth syndrome.Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia.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.Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.Increased CCAAT enhancer-binding protein epsilon (C/EBPepsilon) expression and premature apoptosis in myeloid cells expressing Gfi-1 N382S mutant associated with severe congenital neutropenia.ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.
P2860
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P2860
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Aberrant subcellular targeting ...... differentiating promyelocytes.
@en
type
label
Aberrant subcellular targeting ...... differentiating promyelocytes.
@en
prefLabel
Aberrant subcellular targeting ...... differentiating promyelocytes.
@en
P2093
P2860
P1433
P1476
Aberrant subcellular targeting ...... differentiating promyelocytes.
@en
P2093
Belinda R Avalos
Bruce A Bunnell
Clay B Marsh
John M Robinson
Lawrence J Druhan
Melissa G Hunter
Pam Massullo
P2860
P304
P356
10.1182/BLOOD-2004-07-2618
P407
P577
2005-01-18T00:00:00Z