Associated Papers
Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.
Han C et al.
Bmc Medical Genomics, 2026
CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2026
Early Biomechanical Alterations in Granular Corneal Dystrophy Type 2 From p.Ala546Asp Mutation Carriers.
Domene-Hickman JL et al.
Cornea, 2026
A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.
Min JS et al.
Ophthalmic Genetics, 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
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.
Hull S et al.
Ophthalmic Genetics, 2025
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 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
Case Report: Post-LASIK exacerbation of granular corneal dystrophy type 2: a familial case with TGFBI mutation.
Kuang L et al.
Frontiers in Medicine, 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
Unilateral Granular Type 2 Corneal Dystrophy With Exacerbation After LASIK.
Bostan C et al.
Cornea, 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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.
Chen C et al.
Investigative Ophthalmology & Visual Science, 2024
Molecular genetic analysis of R124H TGFBIp in one family Avellino corneal dystrophy.
Huang Y et al.
Molecular Vision, 2024
Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.
Chang MS et al.
Korean Journal of Ophthalmology : Kjo, 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
Reduced OPA1, Mitochondrial Fragmentation and Increased Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts.
Choi SI et al.
Genes, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Distribution of TGFBI variants in patients with early onset glaucoma.
Gupta V et al.
Molecular Vision, 2023
Update on the Corneal Dystrophies-Genetic Testing and Therapy.
Weiss JS et al.
Cornea, 2022
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E et al.
Molecular Genetics & Genomic Medicine, 2022
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 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
Atypical conjunctival hyaline deposition in a case of granular corneal dystrophy type 2.
Kumada M et al.
American Journal of Ophthalmology, 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
CRISPR/Cas therapeutic strategies for autosomal dominant disorders.
Caruso SM et al.
The Journal of Clinical Investigation, 2022
A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India.
Chakravarty M et al.
European Journal of Ophthalmology, 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-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
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
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
Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population.
Park JE et al.
Molecular Vision, 2021