Associated Papers
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
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
An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.
Li F et al.
Indian Journal of Ophthalmology, 2022
Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Jun I et al.
Scientific Reports, 2021
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
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.
Ann LB et al.
The British Journal of Ophthalmology, 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
Mutational spectrum of Korean patients with corneal dystrophy.
Chae H et al.
Clinical Genetics, 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
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies.
Yam GH et al.
Investigative Ophthalmology & Visual Science, 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
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.
Yamada N et al.
Molecular Vision, 2009
A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation.
Yellore VS et al.
The British Journal of Ophthalmology, 2008
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.
Aldave AJ et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2008
Genetics of corneal dystrophies: the evolving landscape.
Pieramici SF et al.
Current Opinion in Ophthalmology, 2006
TGFBI gene mutations in corneal dystrophies.
Kannabiran C et al.
Human Mutation, 2006
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.
Stix B et al.
Investigative Ophthalmology & Visual Science, 2005
[Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta].
Kawashima M et al.
Nippon Ganka Gakkai Zasshi, 2005
[Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene].
Nakagawa Asahina S et al.
Nippon Ganka Gakkai Zasshi, 2004
[Histopathological study of lattice corneal dystrophy with L 527 R mutation of transforming growth factor-beta induced gene].
Nakagawa E et al.
Nippon Ganka Gakkai Zasshi, 2004
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.
Mashima Y et al.
American Journal of Ophthalmology, 2000
Genetics of anterior and stromal corneal dystrophies.
Poulaki V et al.
Seminars in Ophthalmology, 0