Associated Papers
Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.
Wang K et al.
Medicine, 2026
De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.
Chen X et al.
Journal of Clinical Immunology, 2025
Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia.
Nasri M et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies.
Porfireva ES et al.
Frontiers in Immunology, 2025
Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.
Ritter MU et al.
The Crispr Journal, 2024
CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia.
Nasri M et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.
Xiao Y et al.
Frontiers in Immunology, 2024
Neutrophil Elastase Defects in Congenital Neutropenia.
Rydzynska Z et al.
Frontiers in Immunology, 2021
[Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation].
Liu H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.
Park CH et al.
Journal of Pediatric Hematology/oncology, 2020
CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients.
Nasri M et al.
Haematologica, 2020
Current insights into inherited bone marrow failure syndromes.
Chung NG et al.
Korean Journal of Pediatrics, 2014
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
Skokowa J et al.
Blood, 2014
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia.
Shim YJ et al.
Journal of Korean Medical Science, 2011
A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
Lee ST et al.
Annals of Hematology, 2009