Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2022

Ying Yingfen, Ye Jinbin, Chen Yaming, Chen Qishu, Chen Yilu, Lu Xiaosheng, Xi Haitao, Gu Feng, Pan Deng, Zhao Junzhao

Abstract excerpt

BACKGROUND: Clinical and genetic characteristics of ELANE mutation of a 3-year-old male who had a severe congenital neutropenia (SCN) were examined. We then investigated whether CRISPR/Cas9-mediated gene editing could correct the mutation. PROCEDURE: The proband underwent extensive clinical assessments, such as exome sequencing and bioinformatics analysis, so that pathogenic genes could be identified. Sanger...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Congenital Bone Marrow Failure Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fathers

Share to Germ Cells

Share to Leukocyte Elastase

Share to Mosaicism

Share to Mutation, Missense

Share to Neutropenia

Source

Identifiers

PMID: 34968504
DOI: 10.1016/j.cca.2021.12.023

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.PMID 34968504Read ↗

Paternal germline mosaicism of a missense mutation in ELANE in a Chinese male with severe congenital neutropeniaSemantic proximity Read ↗

[Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation].Semantic proximity Read ↗

Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.Semantic proximity Read ↗

CRISPR-Cas9-Mediated ELANE Mutation Correction in Hematopoietic Stem and Progenitor Cells to Treat Severe Congenital Neutropenia.Semantic proximity Read ↗

Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.Semantic proximity Read ↗

De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.Semantic proximity Read ↗

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.Semantic proximity Read ↗

De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.Semantic proximity Read ↗

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.Semantic proximity Read ↗

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsSemantic proximity Read ↗

Generation and characterization of a human iPSC line SANi007-A from a patient with a heterozygous dominant mutation in ELANE.Semantic proximity Read ↗

CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.