Associated Papers
CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2026
Genotype-Phenotype Correlations and Long-Term Surgical Outcomes in TGFBI-Linked Bowman's Layer Corneal Dystrophies.
Mahoun Z et al.
Cornea, 2025
Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population.
Cho EH et al.
Scientific Reports, 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
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
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
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
Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree.
Fu MJ et al.
International Journal of Ophthalmology, 2022
Corneal Dystrophy in Dutch Belted Rabbits as a Possible Model of Thiel-Behnke Subtype of Epithelial-Stromal TGFβ-Induced Corneal Dystrophy.
Schuh JCL et al.
Toxicologic Pathology, 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
Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities.
Chen AC et al.
Ophthalmic Genetics, 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
Allele-specific genome targeting in the development of precision medicine.
Wu J et al.
Theranostics, 2020
In vivo Imaging of Reis-Bücklers and Thiel-Behnke Corneal Dystrophies Using Anterior Segment Optical Coherence Tomography.
Nishino T et al.
Clinical Ophthalmology (auckland, N.z.), 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
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
Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy.
Zhao F et al.
Journal of Ophthalmology, 2019
Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.
Zhang J et al.
Frontiers in Genetics, 2019
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.
Chao-Shern C et al.
Eye (london, England), 2018
Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates.
Song Y et al.
Journal of Cataract and Refractive Surgery, 2017
Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.
Christie KA et al.
Scientific Reports, 2017
Structural and Functional Implications of Human Transforming Growth Factor β-Induced Protein, TGFBIp, in Corneal Dystrophies.
García-Castellanos R et al.
Structure (london, England : 1993), 2017
[Analysis of TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy].
Guan T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp.
Venkatraman A et al.
Journal of Proteome Research, 2017
TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.
Zeng L et al.
Scientific Reports, 2017
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.
Ann LB et al.
The British Journal of Ophthalmology, 2017
Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.
Cao WP et al.
International Journal of Ophthalmology, 2017
Sensitive Surface Enhanced Raman Scattering-Based Detection of a BIGH3 Point Mutation Associated with Avellino Corneal Dystrophy.
Kim S et al.
Analytical Chemistry, 2016
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.
Evans CJ et al.
Investigative Ophthalmology & Visual Science, 2016
New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.
Qiu WY et al.
Bmc Ophthalmology, 2016
TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies.
Cai J et al.
Genetic Testing and Molecular Biomarkers, 2016
Mutational spectrum of Korean patients with corneal dystrophy.
Chae H et al.
Clinical Genetics, 2016