Associated Papers
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
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
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1
Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Jun I et al.
Scientific Reports, 2021
33772078 (PubMed )
Supplement: 41598_2021_86414_MOESM1_ESM.pdf
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
29170458 (PubMed )
Supplement: 41598_2017_16279_MOESM1_ESM.pdf
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.
Ann LB et al.
The British Journal of Ophthalmology, 2017
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
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
TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.
Paliwal 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
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.
Zhong X et al.
Molecular Vision, 2010
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