Associated Papers
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
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
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
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
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 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
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V et al.
Human Mutation, 2019
Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.
Christie KA et al.
Scientific Reports, 2017
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
Biochemical properties and aggregation propensity of transforming growth factor-induced protein (TGFBIp) and the amyloid forming mutants.
Lakshminarayanan R et al.
The Ocular Surface, 2015
Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.
Lakshminarayanan R et al.
The Ocular Surface, 2014
In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies.
Yam GH et al.
Investigative Ophthalmology & Visual Science, 2012
Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.
Hou YC et al.
Molecular Vision, 2012
TGFBI gene mutations in a Korean population with corneal dystrophy.
Cho KJ et al.
Molecular Vision, 2012
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.
Yang J et al.
Molecular Vision, 2010
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
Zhang C et al.
Molecular Vision, 2009