×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia : A case report.
31574885
2019
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
Gene testing showed that the patient suffered from ELANE gene heterozygous mutation (c.197T>G) (exon2) (p.M66R ).She was finally diagnosed as CyN .
29517659
2018
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE : Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.
31658467
2018
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
CausalMutation
disease
CLINVAR
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
25703294
2016
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
Mutations in the neutrophil elastase (ELANE ) gene are frequently found in SCN and cyclic neutropenia .
27942017
2016
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
We investigated CN-specific p.C71R and p.V174_C181del (NP_001963.1) and CN/CyN -shared p.S126L (NP_001963.1) ELANE mutants.
26567890
2016
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
CausalMutation
disease
CLINVAR
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
25427142
2015
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
This is the first report of mosaicism of the ELANE mutation in a case of CyN .
25912133
2015
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
Biomarker
disease
BEFREE
Mutations in the gene for neutrophil elastase, ELANE , cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN).
25427142
2015
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
Cyclic neutropenia is a rare disease.We report a 31-month-old girl with congenital cyclic neutropenia with a novel mutation in the ELANE gene who developed an acute necrotizing soft-tissue infection on her left axillary legion.
25880377
2015
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
CausalMutation
disease
CLINVAR
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
24523240
2014
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
CLINVAR
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
23463630
2013
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
CausalMutation
disease
CLINVAR
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
23463630
2013
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
UNIPROT
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
23463630
2013
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
One patient with CN had the same S97L ELANE mutation as seven patients with the SCN phenotype.
20582973
2010
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
CLINVAR
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.
20049848
2010
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
Adults were likely to have less frequent infections than children in familial cases of SCN and CN with the same mutation of Ela2 .
19415009
2009
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
AlteredExpression
disease
BEFREE
However, neither connection between phenotypic expression of ELA2 and CN nor the mechanism of cycling is known.
19397594
2009
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
CausalMutation
disease
CLINVAR
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
19036076
2009
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
A unifying model that accounts for the different clinical phenotypes (severe congenital neutropenia versus cyclic neutropenia ) and the diversity of ELA2 mutations (over 50 have been identified), however, is lacking.
18043239
2008
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
CLINVAR
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
18611981
2008
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
Biomarker
disease
BEFREE
Mutations of the ELA2 gene encoding neutrophil elastase (NE ) are responsible for most cases of SCN and cyclic neutropenia (CN ), a related but milder disorder of granulopoiesis.
17761833
2007
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
CausalMutation
disease
CLINVAR
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.
17391497
2007
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
Heterozygous mutations of ELA2 , encoding the protease neutrophil elastase (NE ), cause either autosomal dominant cyclic neutropenia or severe congenital neutropenia (SCN).
17436313
2007
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.800
GeneticVariation
disease
BEFREE
Mutations in ELA2 encoding the neutrophil granule protease, neutrophil elastase (NE ), are the major cause of the 2 main forms of hereditary neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN).
17053055
2007