|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
These observations suggest that ex vivo CRISPR/Cas9 RNP based ELANE knockout of patients' primary hematopoietic stem and progenitor cells followed by autologous transplantation may be an alternative therapy for congenital neutropenia.
|
31248972 |
2020 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report normal neutrophil count in a mother, who carries the same ELANE mutation as her daughter with severe congenital neutropenia.
|
30635825 |
2019 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE.
|
30028820 |
2019 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Severe congenital neutropenia 1 (SCN1) caused by ELANE mutations is a rare disease characterized by very low numbers of circulating neutrophils.
|
31176364 |
2019 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two paternal mosaicism of mutation in ELANE causing severe congenital neutropenia exhibit normal neutrophil morphology and ROS production.
|
31009763 |
2019 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypotheses underlying our model are: an ELANE mutation causes SCN; CSF3R mutations occur spontaneously at a low rate; in fetal life, hematopoietic stem and progenitor cells expands quickly, resulting in a high probability of several tens to several hundreds of cells with CSF3R truncation mutations; therapeutic granulocyte colony-stimulating factor (G-CSF) administration early in life exerts a strong selective pressure, providing mutants with a growth advantage.
|
30615612 |
2019 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cyclical neutropenia is usually caused by heterozygous <i>ELANE</i> mutations while congenital neutropenia is genetically heterogeneous with mutations in genes like <i>ELANE, HAX-1, G6PC3</i> and <i>GFI1.</i> The presence of <i>ELANE</i> mutation aids in the establishment of diagnosis and rules out other secondary causes of neutropenia such as autoimmune cytopenia and evolving aplasia.
|
30171085 |
2018 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
ELANE-related neutropenia includes severe congenital neutropenia and cyclic neutropenia.
|
31658467 |
2018 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We propose that acquisition of <i>CSF3R</i> mutations may represent a mechanism by which myeloid precursor cells carrying the <i>ELANE</i> mutations evade the proapoptotic activity of the NE mutants in SCN patients.
|
28073911 |
2017 |
|
Congenital neutropenia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We hypothesized that inhibitors of NE, acting either by directly inhibiting enzymatic activity or as chaperones for the mutant protein, might be effective as therapy for CyN and SCN.
|
28754797 |
2017 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the neutrophil elastase (ELANE) gene are frequently found in SCN and cyclic neutropenia.
|
27942017 |
2016 |
|
Congenital neutropenia
|
0.500 |
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 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Acquisition of CSF3R mutations is a CN-specific phenomenon and is associated with inherited mutations causing CN or cyclic neutropenia, such as ELANE mutations.
|
27270496 |
2016 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It is now well-established that mutations in HAX1 and ELANE (and more rarely in other genes) are the genetic cause of SCN.
|
26637693 |
2015 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Together, these data suggest that SCN disease pathogenesis includes NE mislocalization, which in turn triggers dysfunctional survival signaling and UPR/ER stress.
|
26193632 |
2015 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene for neutrophil elastase, ELANE, cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN).
|
25427142 |
2015 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.
|
26174650 |
2015 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations within the ELANE gene, which encodes human neutrophil elastase, are the most common genetic causes of severe congenital neutropenia (SCN).
|
25162927 |
2015 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated inherited SCN cases showing different severity even with the same mutation of the ELANE gene in a family.
|
24616599 |
2014 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Severe congenital neutropenia: new lane for ELANE.
|
24458273 |
2014 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
We identified diminished levels of the natural inhibitor of neutrophil elastase (NE), secretory leukocyte protease inhibitor (SLPI), in myeloid cells and plasma of patients with severe congenital neutropenia (CN).
|
24352879 |
2014 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.
|
23351987 |
2013 |
|
Congenital neutropenia
|
0.500 |
Biomarker
|
disease |
BEFREE |
To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm(3) over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12 ± 2.49 months) in a primary immunodeficiency disease center between 2004 and 2011.
|
23206890 |
2013 |
|
Congenital neutropenia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that SCN-iPS cells provide a useful disease model for SCN, and the activation of the Wnt3a/β-catenin pathway may offer a novel therapy for SCN with ELANE mutation.
|
23382209 |
2013 |