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
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E et al.
Molecular Genetics & Genomic Medicine, 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
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
Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study.
Zeng L et al.
Bmc Ophthalmology, 2019
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene.
Bouyacoub Y et al.
Ophthalmic Genetics, 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
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy.
Xiang Q et al.
Journal of Ophthalmology, 2019
Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.
Christie KA et al.
Scientific Reports, 2017
Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.
Du X et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017
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
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
Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.
Courtney DG et al.
Investigative Ophthalmology & Visual Science, 2015
Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.
Lakshminarayanan R et al.
The Ocular Surface, 2014
A case of concomitant keratoconus and granular corneal dystrophy type II.
Rho CR et al.
Contact Lens & Anterior Eye : the Journal of the British Contact Lens Association, 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
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
An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.
Gu Z et al.
Molecular Vision, 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 gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
Ma K et al.
Molecular Vision, 2010
Heterozygous Avellino corneal dystrophy 9 years after photorefractive keratectomy: natural or laser-induced accelerated course?
Park SH et al.
Cornea, 2009
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
Identification of an amyloidogenic region on keratoepithelin via synthetic peptides.
Yuan C et al.
Febs Letters, 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
[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family].
Zenteno JC et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2006
Purification and structural characterization of transforming growth factor beta induced protein (TGFBIp) from porcine and human corneas.
Andersen RB et al.
Biochemistry, 2004
[Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis].
Chiambaretta F et al.
Journal Francais D'ophtalmologie, 2004
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.
El-Ashry MF et al.
The British Journal of Ophthalmology, 2003
BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.
Schmitt-Bernard CF et al.
European Journal of Biochemistry, 2002
BIGH3 mutation spectrum in corneal dystrophies.
Munier FL et al.
Investigative Ophthalmology & Visual Science, 2002
Cytokine gene polymorphism in human disease: on-line databases, supplement 1.
Bidwell J et al.
Genes and Immunity, 2001
Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene.
Konishi M et al.
Current Eye Research, 2000
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.
Stewart HS et al.
Human Mutation, 1999
Genetics of anterior and stromal corneal dystrophies.
Poulaki V et al.
Seminars in Ophthalmology, 0
Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.
Vincent AL
Clinical & Experimental Ophthalmology, 0