Associated Papers
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
Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Jun I et al.
Scientific Reports, 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne C et al.
Plos One, 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
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy.
Xiang Q et al.
Journal of Ophthalmology, 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
CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.
Courtney DG et al.
Gene Therapy, 2016
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.
Yaylacioglu Tuncay F et al.
Molecular Vision, 2016
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
TGFBI gene mutations in a Korean population with corneal dystrophy.
Cho KJ et al.
Molecular Vision, 2012
Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.
Long Y et al.
Journal of Zhejiang University. Science. B, 2011
Utility and efficacy of TGFBI mutational analysis for disease detection.
Vincent AL et al.
Expert Review of Molecular Diagnostics, 2010
Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.
Zenteno JC et al.
Experimental Eye Research, 2009
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
Zenteno JC et al.
Molecular Vision, 2006