In:
PLOS ONE, Public Library of Science (PLoS), Vol. 18, No. 9 ( 2023-9-14), p. e0288640-
Abstract:
The ELMOD3 gene is implicated in causing autosomal recessive/dominant non-syndromic hearing loss in humans. However, the etiology has yet to be completely elucidated. In this study, we generated a patient-derived iPSC line carrying ELMOD3 c.512A 〉 G mutation. In addition, the patient-derived iPSC line was corrected by CRISPR/Cas9 genome editing system. Then we applied RNA sequencing profiling to compare the patient-derived iPSC line with different controls, respectively (the healthy sibling-derived iPSCs and the CRISPR/Cas9 corrected iPSCs). Functional enrichment and PPI network analysis revealed that differentially expressed genes (DEGs) were enriched in the gene ontology, such as sensory epithelial development, intermediate filament cytoskeleton organization, and the regulation of ion transmembrane transport. Our current work provided a new tool for studying how disruption of ELMOD3 mechanistically drives hearing loss.
Type of Medium:
Online Resource
ISSN:
1932-6203
DOI:
10.1371/journal.pone.0288640
DOI:
10.1371/journal.pone.0288640.g001
DOI:
10.1371/journal.pone.0288640.g002
DOI:
10.1371/journal.pone.0288640.g003
DOI:
10.1371/journal.pone.0288640.g004
DOI:
10.1371/journal.pone.0288640.g005
DOI:
10.1371/journal.pone.0288640.g006
DOI:
10.1371/journal.pone.0288640.t001
DOI:
10.1371/journal.pone.0288640.s001
DOI:
10.1371/journal.pone.0288640.s002
DOI:
10.1371/journal.pone.0288640.s003
DOI:
10.1371/journal.pone.0288640.s004
DOI:
10.1371/journal.pone.0288640.s005
DOI:
10.1371/journal.pone.0288640.s006
DOI:
10.1371/journal.pone.0288640.s007
DOI:
10.1371/journal.pone.0288640.s008
DOI:
10.1371/journal.pone.0288640.s009
DOI:
10.1371/journal.pone.0288640.s010
DOI:
10.1371/journal.pone.0288640.s011
DOI:
10.1371/journal.pone.0288640.s012
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2023
detail.hit.zdb_id:
2267670-3
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