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

Precise CRISPR-Mediated Editing of the TGFBI R555W Mutation in Patient-Derived Peripheral Blood Mononuclear Cells.

International journal of molecular sciences - 6 Mar 2026

Dagdelen Burak, Arikoglu Hilal, Erkoc-Kaya Dudu, Bozkurt Banu

Abstract excerpt

Over 70 mutations in the transforming growth factor beta-induced (TGFBI) gene are associated with corneal dystrophies that impair vision. The R555W hotspot mutation is a major cause of granular corneal dystrophy type 1 (GCD1). Here, we evaluated the technical feasibility of CRISPR/Cas9-mediated editing of the R555W mutation in peripheral blood mononuclear cells (PBMCs) obtained from a patient with GCD1. Three...

Read the complete abstract on PubMed

Topics

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

Share to Corneal Dystrophies, Hereditary
Share to CRISPR-Cas Systems

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Gene Editing

Share to Leukocytes, Mononuclear

Share to Mutation

Share to RNA, Guide, CRISPR-Cas Systems

Share to Transforming Growth Factor beta

Source

Open in PubMed Open full text

Identifiers

PMID: 41828635
DOI: 10.3390/ijms27052418
PMCID: PMC12986257

Genes

TGFBI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Precise CRISPR-Mediated Editing of the TGFBI R555W Mutation in Patient-Derived Peripheral Blood Mononuclear Cells.PMID 41828635Read ↗

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 ↗

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

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.Semantic proximity Read ↗

Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.Semantic proximity Read ↗

Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction.Semantic proximity Read ↗

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.Semantic proximity Read ↗

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

The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype.Semantic proximity Read ↗

Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.Semantic proximity Read ↗

Analysis of a Homozygous TGFBI Variant in a Pakistani Family with Granular Corneal Dystrophy Type 2: Implications for Genotype-Phenotype Correlation and Inheritance PatternsSemantic proximity Read ↗

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

Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair.Semantic proximity Read ↗

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