|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report.
|
31574885 |
2019 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.
|
31658467 |
2018 |
|
Cyclic neutropenia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
|
25703294 |
2016 |
|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the neutrophil elastase (ELANE) gene are frequently found in SCN and cyclic neutropenia.
|
27942017 |
2016 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
|
25427142 |
2015 |
|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of mosaicism of the ELANE mutation in a case of CyN.
|
25912133 |
2015 |
|
Cyclic neutropenia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene for neutrophil elastase, ELANE, cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN).
|
25427142 |
2015 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
|
24523240 |
2014 |
|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
|
23463630 |
2013 |
|
Cyclic neutropenia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
|
23463630 |
2013 |
|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
|
23463630 |
2013 |
|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One patient with CN had the same S97L ELANE mutation as seven patients with the SCN phenotype.
|
20582973 |
2010 |
|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.
|
20049848 |
2010 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
However, neither connection between phenotypic expression of ELA2 and CN nor the mechanism of cycling is known.
|
19397594 |
2009 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
|
18611981 |
2008 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
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 |
|
Cyclic neutropenia
|
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 |