(Q86284631)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463630%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463630%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

author name string

Manuela Germeshausen

1

1 reference

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25 February 2020

Sabine Deerberg

2

1 reference

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25 February 2020

Yvonne Peter

3

1 reference

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25 February 2020

Christina Reimer

4

1 reference

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25 February 2020

Christian P Kratz

5

1 reference

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25 February 2020

Matthias Ballmaier

6

1 reference

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25 February 2020

publication date

2 April 2013

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25 February 2020

1 reference

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25 February 2020

volume

34

1 reference

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25 February 2020

issue

6

1 reference

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25 February 2020

page(s)

905-914

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463630%20AND%20SRC:MED&resulttype=core&format=json

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

25 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

SNAP: predict effect of non-synonymous polymorphisms on function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Hematopoietic stem cell transplantation for severe congenital neutropenia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.22308

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Digenic mutations in severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Amino acid difference formula to help explain protein evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Significance of neutrophil elastase mutations versus G-CSF receptor mutations for leukemic progression of congenital neutropenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Neutrophil elastase in cyclic and severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Proteolytic cleavage of granulocyte colony‐stimulating factor and its receptor by neutrophil elastase induces growth inhibition and decreased cell surface expression of the granulocyte colony‐stimulating factor receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Four novel ELANE mutations in patients with congenital neutropenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Characterization of mutant neutrophil elastase in severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Lymphoid Enhancer Factor-1 Links Two Hereditary Leukemia Syndromes through Core-binding Factor α Regulation of ELA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Neutrophil elastase and myeloperoxidase regulate the formation of neutrophil extracellular traps

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Neutrophil serine proteases: specific regulators of inflammation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.22308

1 reference

7 January 2021

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Neutrophil elastase is severely down-regulated in severe congenital neutropenia independent of ELA2 or HAX1 mutations but dependent on LEF-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

The unfolded protein response: from stress pathway to homeostatic regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22308

7 January 2021

Identifiers

DOI

10.1002/HUMU.22308

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23463630%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference