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
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
TGFBI gene mutations analysis in Chinese families with corneal dystrophies.
Wang X et al.
Molecular Medicine Reports, 2017
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
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
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
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
TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.
Gruenauer-Kloevekorn C et al.
The British Journal of Ophthalmology, 2009
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
Romero P et al.
Molecular Vision, 2008
[Analysis of mutation in KRT12 gene in a Chinese family with Meesmann's corneal dystrophy].
Wang LJ et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2007
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
[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
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.
Tian X et al.
Japanese Journal of Ophthalmology, 0
Genetics of anterior and stromal corneal dystrophies.
Poulaki V et al.
Seminars in Ophthalmology, 0