Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms. (Q37512093)

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29 February 2020

title

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms (English)

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10

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Marshall Horwitz

13

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29 February 2020

author name string

Timothy Tidwell

1

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29 February 2020

Jeremy Wechsler

2

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Ramesh C Nayak

3

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Lisa Trump

4

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Stephen J Salipante

5

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Jerry C Cheng

6

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29 February 2020

Jean Donadieu

7

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Taly Glaubach

8

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Seth J Corey

9

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Carolyn Lutzko

11

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Jose A Cancelas

12

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language of work or name

English

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publication date

1 November 2013

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volume

123

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issue

4

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page(s)

562-569

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A congenital neutrophil defect syndrome associated with mutations in VPS45.

29 February 2020

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The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

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

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

23 August 2017

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Diversity of preferred nucleotide sequences around the translation initiation codon in eukaryote genomes

23 August 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

23 August 2017

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Translational control and the unfolded protein response

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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

23 August 2017

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Biochemical and functional analysis of a 9-nt RNA sequence that affects translation efficiency in eukaryotic cells

23 August 2017

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

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23 August 2017

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6 September 2017

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14 September 2017

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14 September 2017

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28 September 2017

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25 June 2018

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25 June 2018

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

2 September 2018

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2 September 2018

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Characterization of mutant neutrophil elastase in severe congenital neutropenia

2 September 2018

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

2 September 2018

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2 September 2018

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The role of alternative translation start sites in the generation of human protein diversity

3 December 2018

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Regulation of internal ribosomal entry site-mediated translation by phosphorylation of the translation initiation factor eIF2alpha

3 December 2018

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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

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12 December 2020

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

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12 December 2020

Mitochondrial targeting signal in human neuropeptide Y gene

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12 December 2020

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

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12 December 2020

Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia

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12 December 2020

Neutrophil elastase-processing defect in cyclic hematopoietic dogs

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12 December 2020

10.1182/BLOOD-2013-07-513242

Identifiers

DOI

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29 February 2020

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29 February 2020

PubMed publication ID

24184683

1 reference

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