Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. (Q52578465)

3 May 2018

title

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

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3 May 2018

author

Nima Rezaei

7

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3 May 2018

Marshall Horwitz

object named as

Marshall S Horwitz

8

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author name string

Stephen J Salipante

1

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3 May 2018

Kathleen F Benson

2

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3 May 2018

Joanna Luty

3

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3 May 2018

Valeh Hadavi

4

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3 May 2018

Roxana Kariminejad

5

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3 May 2018

Mohamad H Kariminejad

6

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3 May 2018

publication date

1 September 2007

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3 May 2018

published in

Human Mutation

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3 May 2018

volume

28

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3 May 2018

issue

9

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3 May 2018

page(s)

874-881

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3 May 2018

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

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Reactive oxygen species in spermatozoa: methods for monitoring and significance for the origins of genetic disease and infertility

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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.

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7 January 2021

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

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7 January 2021

Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.

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

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7 January 2021

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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The origins, patterns and implications of human spontaneous mutation

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Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

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7 January 2021

Clusters of mutations from transient hypermutability

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7 January 2021

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

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7 January 2021

Oxygen radical induced mutagenesis is DNA polymerase specific.

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Innate immunity defects in Hermansky-Pudlak type 2 syndrome

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

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7 January 2021

Carboxyl-terminal prodomain-deleted human leukocyte elastase and cathepsin G are efficiently targeted to granules and enzymatically activated in the rat basophilic/mast cell line RBL.

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

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7 January 2021

Hereditary neutropenia: dogs explain human neutrophil elastase mutations

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7 January 2021

Neutrophil elastase in cyclic and severe congenital neutropenia

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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

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7 January 2021

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

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

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7 January 2021

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

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7 January 2021

Reproductive functions of the ageing male

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7 January 2021

Characterization of mutant neutrophil elastase in severe congenital neutropenia

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7 January 2021

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

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7 January 2021

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

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7 January 2021

Protein sorting in the Golgi complex: shifting paradigms

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7 January 2021

Quantitative measurement of events in the mammalian unfolded protein response

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7 January 2021

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

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7 January 2021

Neutrophil elastase sorting involves plasma membrane trafficking requiring the C-terminal propeptide

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7 January 2021

Heteroduplexes in mixed-template amplifications: formation, consequence and elimination by 'reconditioning PCR'

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7 January 2021

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

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The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene

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Severe haemophilia A in a female resulting from two de novo factor VIII mutations.

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20529

1 reference

3 May 2018

PubMed ID

17436313

1 reference

3 May 2018