Double de novo mutations ofELA2 in cyclic and severe congenital neutropenia-Reference-Cited by-同舟云学术

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Double de novo mutations ofELA2 in cyclic and severe congenital neutropenia

Published:2007 Issue:9 Volume:28 Page:874-881
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Salipante Stephen J.,Benson Kathleen F.,Luty Joanna,Hadavi Valeh,Kariminejad Roxana,Kariminejad Mohamad H.,Rezaei Nima,Horwitz Marshall S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. 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

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

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

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

5. 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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1. Histology and transcriptomic analysis reveal the inflammation and affected pathways under 2-methylisoborneol (2-MIB) exposure on grass carp;Science of The Total Environment;2024-08

2. Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review;Frontiers in Immunology;2024-05-22

3. Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia;Frontiers in Immunology;2023-09-18

4. Application of transcriptome analysis to investigate the effects of long-term low temperature stress on liver function in the tiger puffer (Takifugu rubripes);Frontiers in Marine Science;2022-11-29

5. Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation;Blood Advances;2019-08-19

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