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

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

Scientific reports - 6 Feb 2020

Kitamoto Kohdai, Taketani Yukako, Fujii Wataru, Inamochi Aya, Toyono Tetsuya, Miyai Takashi, Yamagami Satoru, Kuroda Masahiko, Usui Tomohiko, Ouchi Yasuo

Abstract excerpt

Mutations in transforming growth factor-beta-induced (TGFBI) gene cause clinically distinct types of corneal dystrophies. To delineate the mechanisms driving these dystrophies, we focused on the R124C mutation in TGFBI that causes lattice corneal dystrophy type1 (LCD1) and generated novel transgenic mice harbouring a single amino acid substitution of arginine 124 with cysteine in TGFBI via ssODN-mediated...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Stroma

Share to CRISPR-Cas Systems

Share to Extracellular Matrix Proteins

Share to Microscopy, Electron, Transmission

Share to Recombinational DNA Repair

Share to Transforming Growth Factor beta

Source

Open in PubMed Open full text

Identifiers

PMID: 32029872
DOI: 10.1038/s41598-020-58876-w
PMCID: PMC7005300

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair.PMID 32029872Read ↗

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

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

Mimicking TGFBI Hot-Spot Mutation Did Not Result in Any Deposit Formation in the Zebrafish Cornea.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 ↗

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

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.Semantic proximity Read ↗

TGFBI gene mutations in corneal dystrophies.Semantic 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 ↗

CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.Semantic proximity Read ↗

TGFBI gene mutations in a Korean population with corneal dystrophy.Semantic proximity Read ↗

Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.Semantic proximity Read ↗

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