Hinweise zu Qualitätskriterien von Zeitschriften
Open-Access-Richtlinie der Helmholtz-Gemeinschaft 2016
CC Licencences
Metriken für Publikationen
Startseite
Login
English
Erweiterte Suche
Durchblättern nach ...
Publikationen im Überblick
HGF Fortschrittsbericht
OA Publikationen
Neue Publikation eintragen
Neue Publikation holen aus...
Fehlende Publikation melden
Ansprechpartner
Hilfe
Bibliometrische Indikatoren
Text
Endnote (RIS)
BibTeX
Verlagsversion
DOI
PMC
 |
Open Access Gold |
|
möglich sobald bei der ZB eingereicht worden ist.
Systematic ocular phenotyping of knockout mouse lines identifies genes associated with age-related corneal dystrophies.
Invest. Ophthalmol. Vis. Sci. 66:7 (2025)
PURPOSE: This study investigates genes contributing to late-adult corneal dystrophies (LACDs) in aged mice, with potential implications for late-onset corneal dystrophies (CDs) in humans. METHODS: The International Mouse Phenotyping Consortium (IMPC) database, containing data from 8901 knockout mouse lines, was filtered to include late-adult mice (49+ weeks) with significant (P < 0.0001) CD phenotypes. Candidate genes were mapped to human orthologs using the Mouse Genome Informatics group, with expression analyzed via PLAE and a literature review for prior CD associations. Comparative analyses of LACD genes from IMPC and established human CD genes from IC3D included protein interactions (STRING), biological processes (PANTHER), and molecular pathways (KEGG). RESULTS: Analysis identified 14 genes linked to late-adult abnormal corneal phenotypes. Of these, 2 genes were previously associated with CDs in humans, while 12 were novel. Seven of the 14 genes (50%) were expressed in the human cornea based on single-cell transcriptomics. Protein-protein interactions via STRING showed several significant interactions with known human CD genes. PANTHER analysis identified six biological processes shared with established human CD genes. Two genes (Rgs2 and Galnt9) were involved in pathways related to human corneal diseases, including cGMP-PKG signaling, mucin-type O-glycan biosynthesis, and oxytocin signaling. Other candidates were implicated in pathways such as pluripotency of stem cells, MAPK signaling, WNT signaling, actin cytoskeleton regulation, and cellular senescence. CONCLUSIONS: This study identified 14 genes linked to LACD in knockout mice, 12 of which are novel in corneal biology. These genes may serve as potential therapeutic targets for treating corneal diseases in aging human populations.
Impact Factor
Scopus SNIP
Altmetric
4.700
0.000
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Corneal Dystrophy ; Corneal Wound Healing ; Dry Eyes ; Molecular Genetics ; Tears
Sprache
englisch
Veröffentlichungsjahr
2025
HGF-Berichtsjahr
2025
ISSN (print) / ISBN
0146-0404
e-ISSN
1552-5783
Quellenangaben
Band: 66,
Heft: 5,
Artikelnummer: 7
Verlag
Association for Research in Vision and Ophthalmology (ARVO)
Verlagsort
12300 Twinbrook Parkway, Rockville, Md 20852-1606 Usa
Begutachtungsstatus
Peer reviewed
POF Topic(s)
30201 - Metabolic Health
30204 - Cell Programming and Repair
30204 - Cell Programming and Repair
Forschungsfeld(er)
Genetics and Epidemiology
PSP-Element(e)
G-500692-001
G-500600-001
G-500500-001
G-500600-001
G-500500-001
Förderungen
Ministry of Education, Youth and Sports of the Czech Republic
Government of Canada through Genome Canada/Ontario Genomics
NIH
Infrafrontier grant
EU Horizon2020: IPAD-MD
NCATS
Czech Academy of Sciences
International Mouse Phenotyping Consortium
Government of Canada through Genome Canada/Ontario Genomics
NIH
Infrafrontier grant
EU Horizon2020: IPAD-MD
NCATS
Czech Academy of Sciences
International Mouse Phenotyping Consortium
WOS ID
001489364000004
Scopus ID
105004478952
PubMed ID
40323269
Erfassungsdatum
2025-05-11