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
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
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
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
Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients.
Anandalakshmi V et al.
The Biochemical Journal, 2017
TGFBI gene mutations analysis in Chinese families with corneal dystrophies.
Wang X et al.
Molecular Medicine Reports, 2017
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
TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies.
Cai J et al.
Genetic Testing and Molecular Biomarkers, 2016
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
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor.
Fukuoka H et al.
Investigative Ophthalmology & Visual Science, 2010
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).
Romero P et al.
Molecular Vision, 2010
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
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
Romero P et al.
Molecular Vision, 2008
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.
Tian X et al.
American Journal of Ophthalmology, 2007
[A research on TGFBI gene mutations in Chinese families with corneal dystrophies].
Qi YH et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006