|
Neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Because mutant neutrophil elastase is the cause of this abnormality, we hypothesized that ELANE associated neutropenia could be treated and maturation arrest corrected by CRISPR/Cas9-sgRNA ribonucleoprotein mediated ELANE knockout.
|
31248972 |
2020 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SCN1 patients with ELANE mutations suffer from neutropenia yet display eosinophilia in the bone marrow and blood, as revealed by smear examination but not by automatic blood analysers.
|
31176364 |
2019 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, the present case demonstrates a phenotypic variability in ELANE-related neutropenia from mutated Ala57.
|
31658467 |
2018 |
|
Neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
These studies suggest that cell-permeable inhibitors of neutrophil elastase show promise as novel therapies for <i>ELANE</i>-associated neutropenia.
|
28754797 |
2017 |
|
Neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
This observation, along with cleavage in severe neutropenia suggests mechanisms other than neutrophil elastase may be involved in CBG cleavage and local tissue cortisol release in infection.
|
27887960 |
2017 |
|
Neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The aim of the present study was to investigate whether inhibition of neutrophil elastase (NE) is effective in lipopolysaccharide (LPS)-induced ALI during neutropenia recovery in a murine model, and whether it upregulates the activation of the MerTK signaling pathway.
|
28144780 |
2017 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic ELANE mutations have been identified in forms of hereditary neutropenia.
|
28881492 |
2017 |
|
Neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.
|
27942017 |
2016 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells.
|
26193632 |
2015 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
|
25427142 |
2015 |
|
Neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Some ELANE mutations, therefore, appear to cause neutropenia via the production of amino-terminally deleted NE isoforms rather than by altering the coding sequence of the full-length protein.
|
24184683 |
2014 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
He was found to be heterozygous for the M1V variant of the ELA-2 gene that we postulate to be causative for his severe neutropenia
|
21618407 |
2011 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
She had repeated episodes of neutropenia regularly at 3-week intervals and a pathogenic mutation in the ELA2 gene.
|
21161286 |
2011 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The risk of infection is roughly inversely proportional to the circulating polymorphonuclear neutrophil count and is particularly high at counts below 0.2 G/l.When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia) and congenital forms that may either be isolated or part of a complex genetic disease.Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant.About half the forms of congenital neutropenia with no extra-hematopoietic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE) mutations.
|
21595885 |
2011 |
|
Neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase.
|
19506020 |
2009 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A 12-year-old daughter of consanguineous Moroccan parents was diagnosed with cyclic neutropenia, based on a combination of recurrent gingivostomatitis, a fluctuating neutrophil count, and several episodes of severe neutropenia.No ELA2 gene mutations were found.
|
18661496 |
2008 |
|
Neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Gene targeting of ELA2 has thus far failed to recapitulate neutropenia in mice.
|
17053055 |
2007 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Heterozygous mutations of ELA2, encoding the protease neutrophil elastase (NE), cause either autosomal dominant cyclic neutropenia or severe congenital neutropenia (SCN).
|
17436313 |
2007 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ELA2 mutations have been found in cyclic, sporadic and autosomal dominant neutropenia.
|
17917547 |
2007 |
|
Neutropenia
|
0.500 |
Biomarker
|
disease |
CTD_human |
Heterozygous mutations of ELA2, encoding the protease neutrophil elastase (NE), cause either autosomal dominant cyclic neutropenia or severe congenital neutropenia (SCN).
|
17436313 |
2007 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
These observations provide further insight into potential mechanisms by which NE mutations cause neutropenia and suggest that abnormal protein trafficking and accelerated apoptosis of differentiating myeloid cells contribute to the severe SCN phenotype resulting from the G185R mutation.
|
15657182 |
2005 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the neutrophil elastase gene, ELA2, have been reported in patients with CyN and in those with SCN.
|
16079102 |
2005 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These observations provide further insight into potential mechanisms by which NE mutations cause neutropenia and suggest that abnormal protein trafficking and accelerated apoptosis of differentiating myeloid cells contribute to the severe SCN phenotype resulting from the G185R mutation.
|
15657182 |
2005 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Most CN mutations fall within predicted transmembrane domains and lead to excessive deposition of NE in granules, whereas SCN mutations usually disrupt the AP3 recognition sequence, resulting in excessive transport to the plasma membrane.
|
15059607 |
2004 |
|
Neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Disease-causing mutations of neutrophil elastase disrupt the interaction with N2N, impair proteolysis of N2N and Notch2, and interfere with Notch2 signaling, suggesting defective proteolysis of an inhibitory form of Notch as an explanation for the alternate switching of cell fates characteristic of hereditary neutropenia.
|
14673143 |
2004 |