Associated Papers
Rare TGFBI Mutation c.1553T>G p.(L518R) in Lattice Corneal Dystrophy: Comprehensive Clinical and Genetic Analysis in a Chinese Family.
Cui X et al.
American Journal of Ophthalmology, 2025
Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.
Zacharogianni M et al.
American Journal of Ophthalmology, 2025
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
A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family.
Fu M et al.
American Journal of Ophthalmology, 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
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
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
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
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
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
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
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
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
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
A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
Zhang C et al.
Molecular Vision, 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
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
Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy.
Pampukha VM et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2009
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
Romero P 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
[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
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
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.
Yu P et al.
Journal of Genetics, 2006
Genetics of corneal disease for the ocular surface clinician.
Sjoberg SA
The Ocular Surface, 2005
[Molecular genetic study on patients with lattice corneal dystrophy in China].
Dong WL et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction.
Yoshida S et al.
Human Genetics, 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
Purification and structural characterization of transforming growth factor beta induced protein (TGFBIp) from porcine and human corneas.
Andersen RB et al.
Biochemistry, 2004
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
El-Ashry MF et al.
Eye (london, England), 2004
[Histopathological study of lattice corneal dystrophy with L 527 R mutation of transforming growth factor-beta induced gene].
Nakagawa E et al.
Nippon Ganka Gakkai Zasshi, 2004
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.
Warren JF et al.
American Journal of Ophthalmology, 2003
[Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].
Yu J et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2003
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.
Chau HM et al.
The British Journal of Ophthalmology, 2003
The molecular genetics of the corneal dystrophies--current status.
Klintworth GK
Frontiers in Bioscience : a Journal and Virtual Library, 2003
The changing face of the genetics of corneal dystrophies.
Siddiqui N et al.
Current Opinion in Ophthalmology, 2002
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.
Hirano K et al.
Cornea, 2001
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies.
Fujiki K et al.
Cornea, 2000
Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene.
Konishi M et al.
Current Eye Research, 2000