Associated Papers
Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report.
Adachi R et al.
Ophthalmic Genetics, 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
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
An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.
Li F et al.
Indian Journal of Ophthalmology, 2022
Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.
Han SB et al.
International Journal of Molecular Sciences, 2021
AsCRISPR: A Web Server for Allele-Specific Single Guide RNA Design in Precision Medicine.
Zhao G et al.
The Crispr Journal, 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
Allele-specific genome targeting in the development of precision medicine.
Wu J et al.
Theranostics, 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
Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.
Christie KA et al.
Scientific Reports, 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
Mutational spectrum of Korean patients with corneal dystrophy.
Chae H et al.
Clinical Genetics, 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
Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene.
Ołdak M et al.
Cornea, 2014
A Korean patient with lattice corneal dystrophy type IV with Leu527Arg mutation in the TGFBI gene.
Kim J et al.
Korean Journal of Ophthalmology : Kjo, 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
A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.
Lakshminarayanan R et al.
The British Journal of Ophthalmology, 2011
A novel mutation of the TGFBI gene causing a lattice corneal dystrophy with deep stromal involvement.
Kawasaki S et al.
The British Journal of Ophthalmology, 2011
Congenital toxoplasmosis mimicking microcephaly-lymphedema-chorioretinal dysplasia.
Ozeki Y et al.
Japanese Journal of Ophthalmology, 2010
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
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor.
Fukuoka H et al.
Investigative Ophthalmology & Visual Science, 2010
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
Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings.
Gruenauer-Kloevekorn C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2009
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
Romero P 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
[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
In vivo laser confocal microscopic findings of corneal stromal dystrophies.
Kobayashi A et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 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
No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid deposition.
Aldave AJ et al.
Cornea, 2006
Genetics of corneal disease for the ocular surface clinician.
Sjoberg SA
The Ocular Surface, 2005
Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.
Yamada N et al.
The British Journal of Ophthalmology, 2005
Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction.
Yoshida S et al.
Human Genetics, 2005
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.
Stix B et al.
Investigative Ophthalmology & Visual Science, 2005
[Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta].
Kawashima M et al.
Nippon Ganka Gakkai Zasshi, 2005
Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis.
Aldave AJ et al.
Cornea, 2005
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
Chakravarthi SV et al.
Investigative Ophthalmology & Visual Science, 2005
Purification and structural characterization of transforming growth factor beta induced protein (TGFBIp) from porcine and human corneas.
Andersen RB et al.
Biochemistry, 2004
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
Aldave AJ et al.
American Journal of Ophthalmology, 2004
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
El-Ashry MF et al.
Eye (london, England), 2004