Associated Papers
Clinical and Histopathologic Characteristics and Template of the TGFBI p.(His626Arg) Missense Variant Lattice Corneal Dystrophy.
Jaakkola AM et al.
Cornea, 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
Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.
Irusteta L et al.
Ophthalmic Genetics, 2022
Genetic screening of TGFBI in Iranian patients with TGFBI-associated corneal dystrophies and a meta-analysis of global variation frequencies.
Jozaei R et al.
Ophthalmic Genetics, 2022
Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree.
Fu MJ et al.
International Journal of Ophthalmology, 2022
Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities.
Chen AC et al.
Ophthalmic Genetics, 2020
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
Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.
Malkondu F et al.
Turkish Journal of Ophthalmology, 2020
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.
Chao-Shern C et al.
Eye (london, England), 2019
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
Proteomic Analysis of Amyloid Corneal Aggregates from TGFBI-H626R Lattice Corneal Dystrophy Patient Implicates Serine-Protease HTRA1 in Mutation-Specific Pathogenesis of TGFBIp.
Venkatraman A et al.
Journal of Proteome Research, 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
Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.
Foja S et al.
International Ophthalmology, 2016
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.
Evans CJ et al.
Investigative Ophthalmology & Visual Science, 2016
TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies.
Cai J et al.
Genetic Testing and Molecular Biomarkers, 2016
Lacritin and other autophagy associated proteins in ocular surface health.
Karnati R et al.
Experimental Eye Research, 2016
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
Early Events in the Amyloid Formation of the A546T Mutant of Transforming Growth Factor β-Induced Protein in Corneal Dystrophies Compared to the Nonfibrillating R555W and R555Q Mutants.
Koldsø H et al.
Biochemistry, 2015
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
TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.
Liang Q et al.
Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (optometrists), 2012
Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.
Hou YC et al.
Molecular Vision, 2012
Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.
Piao MZ et al.
The Journal of International Medical Research, 2012
A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.
Paliwal P et al.
Ophthalmic Research, 2011
The genetics of the corneal dystrophies.
Aldave AJ
Developments in Ophthalmology, 2011
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.
Niel-Butschi F et al.
Molecular Vision, 2011
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.
Yang J et al.
Molecular Vision, 2010
TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
Ma K 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
[Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy].
Li DD et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.
Auw-Haedrich C et al.
Ophthalmology, 2009
A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.
Wheeldon CE et al.
Molecular Vision, 2008
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
Li D et al.
Molecular Vision, 2008
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene.
Afshari NA et al.
Molecular Vision, 2008
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
Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
Zhao XC et al.
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 unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.
Aldave AJ et al.
Ophthalmology, 2005
Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3.
Morand S et al.
Investigative Ophthalmology & Visual Science, 2003
Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.
Afshari NA et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2001
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.
El-Ashry MF et al.
Ophthalmic Research, 0
Genetics of anterior and stromal corneal dystrophies.
Poulaki V et al.
Seminars in Ophthalmology, 0