ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology (Q36573828)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

review article

1 reference

title

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

severe congenital neutropenia

22 February 2020

main subject

congenital disorder

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

H. Leighton Grimes

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Seth J Corey

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Timothy Tidwell

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

publication date

7 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

Hematology / Oncology Clinics of North America

22 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

19-41, vii

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

22 February 2020

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Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes

30 September 2017

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Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.

30 September 2017

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Digenic mutations in severe congenital neutropenia

30 September 2017

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Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

30 September 2017

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Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase

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Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene

30 September 2017

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A syndrome with congenital neutropenia and mutations in G6PC3

30 September 2017

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Cyclic neutropenia in mammals

30 September 2017

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Periodic disease; a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia

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30 September 2017

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30 September 2017

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Severe congenital neutropenia and the unfolded protein response

30 September 2017

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Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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Impaired B-lymphopoiesis, myelopoiesis, and derailed cerebellar neuron migration in CXCR4- and SDF-1-deficient mice

30 September 2017

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30 September 2017

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30 September 2017

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L-DNase II, a molecule that links proteases and endonucleases in apoptosis, derives from the ubiquitous serpin leukocyte elastase inhibitor

30 September 2017

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Bone mineralization and turnover in children with congenital neutropenia, and its relationship to treatment with recombinant human granulocyte-colony stimulating factor

30 September 2017

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30 September 2017

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Cell surface-bound elastase and cathepsin G on human neutrophils: a novel, non-oxidative mechanism by which neutrophils focus and preserve catalytic activity of serine proteinases

30 September 2017

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Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia

30 September 2017

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Evolution of Proteolytic Enzymes

30 September 2017

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Cyclic hematopoiesis: human cyclic neutropenia

30 September 2017

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Cyclic ultrastructural abnormalities in human cyclic neutropenia

30 September 2017

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Mediators of inflammation in leukocyte lysosomes. IX. Elastinolytic activity in granules of human polymorphonuclear leukocytes

30 September 2017

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Granulocyte function in the Chediak-Higashi syndrome of mice

30 September 2017

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Role of chalone in granulopoiesis

30 September 2017

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Neutropenia in cats with the Chediak-Higashi syndrome

30 September 2017

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Thickened cortical bones in congenital neutropenia

30 September 2017

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Human leukocyte and porcine pancreatic elastase: X-ray crystal structures, mechanism, substrate specificity, and mechanism-based inhibitors

30 September 2017

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Infantile genetic agranulocytosis. A review with presentation of ten new cases

30 September 2017

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The neonatal blood count in health and disease.I. Reference values for neutrophilic cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Cyclic hemopoiesis and feedback control

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Elastase-like enzymes in human neutrophils localized by ultrastructural cytochemistry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome).

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Mathematical model of cyclic kinetics of granulocytopoiesis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Severe congenital neutropenia with unique features of dysgranulopoiesis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Myelomonocytic cell lineage expression of the neutrophil elastase gene

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Leukocyte count correlates in middle-aged adults: the Atherosclerosis Risk in Communities (ARIC) Study

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

The Chediak-Higashi syndrome of cats

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Diurnal variation of hematology parameters in healthy young males: the Bispebjerg study of diurnal variations.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Ex vivo-expanded bone marrow CD34+ derived neutrophils have limited bactericidal ability

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Neutropenia in 6 ethnic groups from the Caribbean and the U.S.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Antitumor activity of PR-171, a novel irreversible inhibitor of the proteasome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

The sulfate groups of chondroitin sulfate- and heparan sulfate-containing proteoglycans in neutrophil plasma membranes are novel binding sites for human leukocyte elastase and cathepsin G.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

The significance of carbohydrates on G-CSF: differential sensitivity of G-CSFs to human neutrophil elastase degradation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Deficiency of antibacterial peptides in patients with morbus Kostmann: an observation study.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Severe osteopenia in a young boy with Kostmann's congenital neutropenia treated with granulocyte colony-stimulating factor: suggested therapeutic approach

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Characterization of mutant neutrophil elastase in severe congenital neutropenia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Severe congenital neutropenia: a negative synergistic effect of multiple mutations ofELANE(ELA2) gene

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Influence of Charge Distribution at the Active Site Surface on the Substrate Specificity of Human Neutrophil Protease 3 and Elastase

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3559001

Crystallization and characterization of a new protease in mitochondria of bone marrow cells

4 December 2018

1 reference

12 December 2020

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

1 reference

12 December 2020

Atraumatic Clostridium septicum infection in granulocytopenia

1 reference

12 December 2020

Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring

1 reference

12 December 2020

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

1 reference

12 December 2020

Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis

1 reference

12 December 2020

Novel mutation causing Hermansky–Pudlak Syndrome Type 2

1 reference

12 December 2020

Osteoporosis in severe congenital neutropenia treated with granulocyte colony-stimulating factor

1 reference

12 December 2020

Cyclic neutropenia in an infant

1 reference

12 December 2020

Loss of TRF2 by radiation-induced apoptosis in HL60 cells

1 reference

12 December 2020

Neutrophil elastase-processing defect in cyclic hematopoietic dogs

1 reference

12 December 2020

Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1

1 reference

12 December 2020

Nuclear translocation of a leukocyte elastase Inhibitor/Elastase complex during staurosporine-induced apoptosis: role in the generation of nuclear L-DNase II activity

1 reference

12 December 2020

Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia

1 reference

12 December 2020

Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia

1 reference

12 December 2020

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

1 reference

12 December 2020

Activation of progelatinase B by membranes of human polymorphonuclear granulocytes

1 reference

12 December 2020

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia

1 reference

12 December 2020

Reversal of CAMAL-mediated alterations of normal and leukemic in vitro myelopoiesis using inhibitors of proteolytic activity

1 reference

12 December 2020

Human cyclic neutropenia transferred by allogeneic bone marrow grafting

1 reference

12 December 2020

Neutrophils in beige mice secrete normal amounts of cathepsin G and a 46 kDa latent form of elastase that can be activated extracellularly by proteolytic activity

1 reference

12 December 2020

Microbiology of destructive periodontal disease in adolescent patients with congenital neutropenia. A report of 3 cases

1 reference

12 December 2020

Cyclic hormonogenesis in gray collie dogs: interactions of hematopoietic and endocrine systems

1 reference

12 December 2020

Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia

1 reference

12 December 2020

10.1016/J.HOC.2012.10.004

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23351986%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

23351986

1 reference