(Q26830241)

title

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia (English)

1 reference

9

1 reference

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9 June 2020

Philip S. Rosenberg

12

1 reference

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9 June 2020

author name string

Vahagn Makaryan

1

2 references

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9 June 2020

Cornelia Zeidler

2

2 references

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9 June 2020

Audrey Anna Bolyard

3

2 references

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9 June 2020

Julia Skokowa

4

2 references

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9 June 2020

Elin Rodger

5

2 references

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9 June 2020

Mary Ann Bonilla

8

2 references

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9 June 2020

Akiko Shimamura

10

2 references

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9 June 2020

Bin Zhu

11

2 references

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9 June 2020

Karl Welte

14

2 references

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9 June 2020

Merideth L Kelley

6

1 reference

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9 June 2020

Laurence A Boxer

7

1 reference

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9 June 2020

Daniel C Link

13

1 reference

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9 June 2020

David C Dale

15

1 reference

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9 June 2020

language of work or name

1 reference

January 2015

1 reference

Current Opinion in Hematology

published in

2 references

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9 June 2020

volume

22

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9 June 2020

issue

1

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9 June 2020

page(s)

3-11

2 references

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A method and server for predicting damaging missense mutations

9 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

G-CSF and its receptor in myeloid malignancy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Neutrophil elastase, proteinase 3 and cathepsin G: physicochemical properties, activity and physiopathological functions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Neutrophil granules in health and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Severe congenital neutropenia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Simple exact analysis of the standardised mortality ratio

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380169

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

28 November 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

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

1 reference

12 December 2020

Severe congenital neutropenia: new lane for ELANE

1 reference

12 December 2020

10.1097/MOH.0000000000000105

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25427142%20AND%20SRC:MED&resulttype=core&format=json

release_edlt2i67abdxfpdk5tef2mhcny

9 June 2020

Fatcat ID

0 references

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25427142%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

2 references