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
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
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
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 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
Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery.
Yeh TC et al.
Cornea, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Distribution of TGFBI variants in patients with early onset glaucoma.
Gupta V et al.
Molecular Vision, 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
A novel variant in TGFBI causes keratoconus in a two-generation Chinese family.
Lin Q et al.
Ophthalmic Genetics, 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
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
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
Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family.
Zhang T et al.
European Journal of Ophthalmology, 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
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene.
Bouyacoub Y et al.
Ophthalmic Genetics, 2019
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.
Chao-Shern C et al.
Eye (london, England), 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
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy.
Xiang Q 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
Mutation-Induced Deamidation of Corneal Dystrophy-Related Transforming Growth Factor β-Induced Protein.
Nielsen NS et al.
Biochemistry, 2017
Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.
Christie KA et al.
Scientific Reports, 2017
The Changing Face of Aging: Highly Sulfated Glycosaminoglycans Induce Amyloid Formation in a Lattice Corneal Dystrophy Model Protein.
Malmos KG et al.
Journal of Molecular Biology, 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