Associated Papers
Release of frustration drives corneal amyloid disaggregation by brain chaperone.
Low JYK et al.
Communications Biology, 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
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
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
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
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
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments.
Jung JW et al.
Cornea, 2014
Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.
Lakshminarayanan R et al.
The Ocular Surface, 2014
TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.
Gonzalez-Rodriguez J et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2014
A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.
Lakshminarayanan R et al.
The British Journal of Ophthalmology, 2011
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