Associated Papers
CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2026
Rare TGFBI Mutation c.1553T>G p.(L518R) in Lattice Corneal Dystrophy: Comprehensive Clinical and Genetic Analysis in a Chinese Family.
Cui X et al.
American Journal of Ophthalmology, 2025
A Novel Mouse Model of Granular Corneal Dystrophy Type II Reveals Impaired Autophagy and Recapitulates Human Pathogenesis.
Yu Y et al.
Investigative Ophthalmology & Visual Science, 2025
Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population.
Cho EH et al.
Scientific Reports, 2025
TGFBI R124H mutant allele silencing in granular corneal dystrophy type 2 using topical siRNA delivery.
McLain A et al.
Journal of Controlled Release : Official Journal of the Controlled Release Society, 2025
Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.
Zacharogianni M et al.
American Journal of Ophthalmology, 2025
Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report.
Adachi R et al.
Ophthalmic Genetics, 2025
Compound Heterozygous p.(R124C) (Classic Lattice Corneal Dystrophy) and p.(R124H) (Granular Corneal Dystrophy Type 2) in TGFBI: Phenotype, Genotype, and Treatment.
Min JS et al.
Genes, 2025
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
Christodoulaki V et al.
Genes, 2024
Classic lattice corneal dystrophy: a brief review and summary of treatment modalities.
Milovanova E et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.
Gwack J et al.
Current Issues in Molecular Biology, 2024
Mimicking TGFBI Hot-Spot Mutation Did Not Result in Any Deposit Formation in the Zebrafish Cornea.
Yaylacıoğlu Tuncay F et al.
Current Eye Research, 2024
Clinical and Histopathologic Characteristics and Template of the TGFBI p.(His626Arg) Missense Variant Lattice Corneal Dystrophy.
Jaakkola AM et al.
Cornea, 2023
Release of frustration drives corneal amyloid disaggregation by brain chaperone.
Low JYK et al.
Communications Biology, 2023
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
Update on the Corneal Dystrophies-Genetic Testing and Therapy.
Weiss JS et al.
Cornea, 2022
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China.
Li T et al.
Ophthalmic Genetics, 2022
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.
Jozaei R et al.
Ophthalmic Genetics, 2022
A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy.
Jaakkola AM et al.
European Journal of Ophthalmology, 2022
Rare eye diseases in India: A concise review of genes and genetics.
Jeyabalan N et al.
Indian Journal of Ophthalmology, 2022
De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA.
Ji YW et al.
Journal of Clinical Medicine, 2022
Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy.
Wang L et al.
Autophagy, 2022
An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.
Li F et al.
Indian Journal of Ophthalmology, 2022
Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree.
Fu MJ et al.
International Journal of Ophthalmology, 2022
Mutation-induced dimerization of transforming growth factor-β-induced protein may drive protein aggregation in granular corneal dystrophy.
Nielsen NS et al.
The Journal of Biological Chemistry, 2021
Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Jun I et al.
Scientific Reports, 2021
Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.
Han SB et al.
International Journal of Molecular Sciences, 2021
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.
Benbouchta Y et al.
Bmc Medical Genomics, 2021
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population.
Park JE et al.
Molecular Vision, 2021
Protein Analysis of the TGFBIR124H Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy.
Lukassen MV et al.
Proteomics. Clinical Applications, 2020
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.
Mohammadi A et al.
Iranian Journal of Basic Medical Sciences, 2020
Pharmaceutical modulation of the proteolytic profile of Transforming Growth Factor Beta induced protein (TGFBIp) offers a new avenue for treatment of TGFBI-corneal dystrophy.
Venkatraman A et al.
Journal of Advanced Research, 2020
Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.
Malkondu F et al.
Turkish Journal of Ophthalmology, 2020
Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair.
Kitamoto K et al.
Scientific Reports, 2020
Amyloidosis and Ocular Involvement: an Overview.
Dammacco R et al.
Seminars in Ophthalmology, 2020
Allele-specific genome targeting in the development of precision medicine.
Wu J et al.
Theranostics, 2020
Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study.
Zeng L et al.
Bmc Ophthalmology, 2019
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.
Chao-Shern C et al.
Eye (london, England), 2019
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V et al.
Human Mutation, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Matrix-Assisted Laser Desorption Ionization Mass Spectrometry Imaging of Key Proteins in Corneal Samples from Lattice Dystrophy Patients with TGFBI-H626R and TGFBI-R124C Mutations.
Venkatraman A et al.
Proteomics. Clinical Applications, 2019
Generation of TGFBI knockout ABCG2+/ABCB5+ double-positive limbal epithelial stem cells by CRISPR/Cas9-mediated genome editing.
Kim EK et al.
Plos One, 2019