ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
about
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropeniaThe diversity of mutations and clinical outcomes for ELANE-associated neutropeniaGenetic predisposition syndromes: when should they be considered in the work-up of MDS?Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report.Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorder.Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: case report.Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsNeutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.A novel immunodeficiency syndrome associated with partial trisomy 19p13.Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia.Periodontal and other oral manifestations of immunodeficiency diseases.Dendritic cell analysis in primary immunodeficiencyGene expression profile analysis of ventilator-associated pneumonia.Appendectomy in a child with cyclic neutropenia in profound neutropenic episode.Elastase inhibitors as potential therapies for ELANE-associated neutropenia.Linking stress granulopoiesis to protein synthesis through GADD34.ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia
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P2860
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
@ast
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
@en
type
label
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
@ast
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
@en
prefLabel
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
@ast
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
@en
P2860
P1476
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology
@en
P2093
Seth J Corey
Timothy Tidwell
P2860
P304
19-41, vii
P356
10.1016/J.HOC.2012.10.004
P577
2012-11-07T00:00:00Z