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
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
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
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.
Braddock FL et al.
European Journal of Human Genetics : Ejhg, 2024
Atomistic simulations reveal impacts of missense mutations on the structure and function of SynGAP1.
Ali AE et al.
Briefings in Bioinformatics, 2024
A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family.
Fu M et al.
American Journal of Ophthalmology, 2023
Clinical and Histopathologic Characteristics and Template of the TGFBI p.(His626Arg) Missense Variant Lattice Corneal Dystrophy.
Jaakkola AM et al.
Cornea, 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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E et al.
Molecular Genetics & Genomic Medicine, 2022
Maltese Allelic Variants in Corneal Dystrophy Genes in a Worldwide Setting.
Guo Sciriha G et al.
Molecular Diagnosis & Therapy, 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
Femtosecond laser assisted superficial lamellar keratectomy as a successful treatment of corneal opacity in a patient with Thiel Behnke corneal dystrophy.
Abusayf MM et al.
International Journal of Surgery Case Reports, 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
Mutation effects on FAS1 domain 4 based on structure and solubility.
Kim D et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 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
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
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
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
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
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.
Chao-Shern C et al.
Eye (london, England), 2018
Mutation-Induced Deamidation of Corneal Dystrophy-Related Transforming Growth Factor β-Induced Protein.
Nielsen NS et al.
Biochemistry, 2017
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
Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.
Du X et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 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
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
Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.
Foja S et al.
International Ophthalmology, 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