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
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
Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals.
Chen S et al.
Frontiers in Cell and Developmental Biology, 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
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
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
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
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
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
Serine protease HtrA1 accumulates in corneal transforming growth factor beta induced protein (TGFBIp) amyloid deposits.
Karring H et al.
Molecular Vision, 2013
Polymorphic fibrillation of the destabilized fourth fasciclin-1 domain mutant A546T of the Transforming growth factor-β-induced protein (TGFBIp) occurs through multiple pathways with different oligomeric intermediates.
Andreasen M et al.
The Journal of Biological Chemistry, 2012
Composition and proteolytic processing of corneal deposits associated with mutations in the TGFBI gene.
Karring H et al.
Experimental Eye Research, 2012
Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality.
Ohnishi T et al.
Japanese Journal of Ophthalmology, 2010
Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene.
Afshari NA et al.
Molecular Vision, 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
TGFBI gene mutations in corneal dystrophies.
Kannabiran C et al.
Human Mutation, 2006
Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.
Vincent AL
Clinical & Experimental Ophthalmology, 0