Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.
about
Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastaseUncommon cause of recurrent infectionsSerpinB1 protects the mature neutrophil reserve in the bone marrowMutations in proto-oncogene GFI1 cause human neutropenia and target ELA2A syndrome with congenital neutropenia and mutations in G6PC3Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2The molecular pathology of primary immunodeficienciesCan mutations in ELA2, neutrophil elastase expression or differential cell toxicity explain sulphasalazine-induced agranulocytosis?Inhibitors of Serine Proteases in Regulating the Production and Function of Neutrophil Extracellular TrapsThe diversity of mutations and clinical outcomes for ELANE-associated neutropeniaCongenital defects in neutrophil dynamicsNeutrophil elastase mutations in congenital neutropeniaMutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth diseaseELA2 is regulated by hematopoietic transcription factors, but not repressed by AML1-ETOHAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)LEF-1 is a decisive transcription factor in neutrophil granulopoiesisα1Proteinase inhibitor regulates CD4+ lymphocyte levels and is rate limiting in HIV-1 diseaseSevere congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.Finding unexpected patterns in microarray data.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 neutropeniaA novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systemsInherited biallelic CSF3R mutations in severe congenital neutropenia.Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.Congenital bone marrow failure syndromes.Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases.Neutrophil disorders and their management.Leukocyte elastase: physiological functions and role in acute lung injury.TCIRG1-associated congenital neutropenia.Intracellular serpins in haemopoietic and peripheral blood cells.A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropeniaThe investigation and management of chronic neutropenia in children.Acute and chronic neutropenias. What is new?Severe congenital neutropenia: genetics and pathogenesis.Clinical symptoms and neutropenia: the balance of neutrophil development, functional activity, and cell death.Targets of the transcriptional repressor oncoprotein Gfi-1.The genetic and molecular bases of monogenic disorders affecting proteolytic systems.Gfi-1 oncoproteins in hematopoiesis.
P2860
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P2860
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in ELA2, encoding ne ...... lock in cyclic haematopoiesis.
@ast
Mutations in ELA2, encoding ne ...... lock in cyclic haematopoiesis.
@en
type
label
Mutations in ELA2, encoding ne ...... lock in cyclic haematopoiesis.
@ast
Mutations in ELA2, encoding ne ...... lock in cyclic haematopoiesis.
@en
prefLabel
Mutations in ELA2, encoding ne ...... lock in cyclic haematopoiesis.
@ast
Mutations in ELA2, encoding ne ...... lock in cyclic haematopoiesis.
@en
P2093
P356
P1433
P1476
Mutations in ELA2, encoding ne ...... clock in cyclic haematopoiesis
@en
P2093
P2888
P304
P356
10.1038/70544
P407
P577
1999-12-01T00:00:00Z