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 Novel Mouse Model of Granular Corneal Dystrophy Type II Reveals Impaired Autophagy and Recapitulates Human Pathogenesis.

Investigative ophthalmology & visual science - 2 Sept 2025

Yu Yanze, Zhang Zhe, Zhai Zimeng, Sun Bingqing, Yang Dongmei, Wang Zhanying, Lin Qinghong, Zhou Xingtao, Zhao Jing

Abstract excerpt

Purpose: To develop and characterize a novel mouse model of granular corneal dystrophy type II (GCD2) using CRISPR/Cas9 technology and explore the underlying pathogenesis of transforming growth factor-beta-induced protein (TGFBIp) aggregation. Methods: CRISPR/Cas9 technology was employed to introduce the R124H mutation in the TGFBI gene of mice. Genomic sequencing and polymerase chain reaction confirmed the...

Read the complete abstract on PubMed

Topics

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

Share to Autophagy
Share to Cornea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

Share to CRISPR-Cas Systems

Share to Extracellular Matrix Proteins

Share to Microscopy, Electron, Transmission

Share to Tomography, Optical Coherence

Share to Transforming Growth Factor beta

Source

Open in PubMed Open full text

Identifiers

PMID: 40900077
DOI: 10.1167/iovs.66.12.7
PMCID: PMC12410266

Genes

TGFBI
SQSTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Mouse Model of Granular Corneal Dystrophy Type II Reveals Impaired Autophagy and Recapitulates Human Pathogenesis.PMID 40900077Read ↗

Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair.Semantic proximity Read ↗

Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2.Semantic proximity Read ↗

Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repairSemantic proximity Read ↗

Protein Analysis of the TGFBIR124H Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy.Semantic proximity Read ↗

Pathogenesis and treatments of TGFBI corneal dystrophies.Semantic proximity Read ↗

Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophySemantic proximity Read ↗

A novel and efficient murine model of Bietti crystalline dystrophy.Semantic proximity Read ↗

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.Semantic proximity Read ↗

Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes.Semantic proximity Read ↗

LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta-induced protein (TGFBIp).Semantic proximity Read ↗

TGFBI R124H mutant allele silencing in granular corneal dystrophy type 2 using topical siRNA delivery.Semantic proximity Read ↗

Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings.Semantic proximity Read ↗

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