Associated Papers
Early Biomechanical Alterations in Granular Corneal Dystrophy Type 2 From p.Ala546Asp Mutation Carriers.
Domene-Hickman JL et al.
Cornea, 2026
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
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China.
Li T 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
De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA.
Ji YW et al.
Journal of Clinical Medicine, 2022
Mutation-induced dimerization of transforming growth factor-β-induced protein may drive protein aggregation in granular corneal dystrophy.
Nielsen NS et al.
The Journal of Biological Chemistry, 2021
Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.
Jun I et al.
Scientific Reports, 2021
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
Pharmaceutical modulation of the proteolytic profile of Transforming Growth Factor Beta induced protein (TGFBIp) offers a new avenue for treatment of TGFBI-corneal dystrophy.
Venkatraman A et al.
Journal of Advanced Research, 2020
Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.
Campos-Mollo E et al.
Clinical & Experimental Ophthalmology, 2019
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
Mutation-Induced Deamidation of Corneal Dystrophy-Related Transforming Growth Factor β-Induced Protein.
Nielsen NS et al.
Biochemistry, 2017
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
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.
Ann LB et al.
The British Journal of Ophthalmology, 2017
Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.
Cao WP et al.
International Journal of Ophthalmology, 2017
Lacritin and other autophagy associated proteins in ocular surface health.
Karnati R et al.
Experimental Eye Research, 2016
LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta-induced protein (TGFBIp).
Poulsen ET et al.
Proteomics, 2016
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
Genes in dizygote twins with Bowman layer corneal dystrophy.
Hou YC et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 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
First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.
Mazzotta C et al.
Case Reports in Ophthalmology, 2014
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene.
Poulsen ET et al.
Proteomics. Clinical Applications, 2014
Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.
Song FW et al.
Journal of Zhejiang University. Science. B, 2013
Serine protease HtrA1 accumulates in corneal transforming growth factor beta induced protein (TGFBIp) amyloid deposits.
Karring H et al.
Molecular Vision, 2013
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
Investigation of the influence of Arg555Trp and Thr538Pro TGFBI mutations on C-terminal cleavage and cell endoplasmic reticulum stress.
Zhu M et al.
Molecular Vision, 2012
TGFBI gene mutations in a Korean population with corneal dystrophy.
Cho KJ et al.
Molecular Vision, 2012
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy.
Pradhan MA et al.
Cornea, 2011
Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.
Huo YN et al.
Journal of Zhejiang University. Science. B, 2011
Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.
Long Y et al.
Journal of Zhejiang University. Science. B, 2011
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
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
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
Zhang C et al.
Molecular Vision, 2009
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
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
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.
Yamada N et al.
Molecular Vision, 2009