Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1639202
Abstract: ABSTRACT Purpose: We report the clinical features and the mutational analysis in a large Tunisian family with granular corneal dystrophy type I (GCD1). Patients and Methods: Thirty-three members of the Tunisian family underwent a complete… read more here.
Keywords: corneal; r124s mutation; family; tunisian family ... See more keywords
Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities
Sign Up to like & getrecommendations! Published in 2020 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2020.1814345
Abstract: ABSTRACT Background Most transforming growth factor beta-induced (TGFBI) corneal dystrophies are associated with a characteristic phenotype, clinical course, and a conserved mutation in the TGFBI gene. However, we report a novel TGFBI missense mutation associated… read more here.
Keywords: novel tgfbi; late onset; bowman layer; tgfbi gene ... See more keywords
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2068616
Abstract: ABSTRACT Background To delineate the mutations of the TGFBI gene in Eastern China by whole-exome sequencing (WES) in eight Chinese families with lattice corneal dystrophy (LCD). Materials and methods This retrospective study included eight families… read more here.
Keywords: eastern china; lattice corneal; tgfbi gene; mutation ... See more keywords
Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Ophthalmology"
DOI: 10.1155/2019/6769013
Abstract: Objective To identify the types of TGFBI (transforming growth factor, beta-induced) gene mutations in three Chinese families with Reis–Bücklers corneal dystrophy (RBCD), lattice corneal dystrophy type I (LCDI), or Avellino corneal dystrophy (ACD) and to… read more here.
Keywords: gene mutations; corneal dystrophy; tgfbi gene; gene ... See more keywords
Identification of the Potential Molecular Mechanism of TGFBI Gene in Persistent Atrial Fibrillation
Sign Up to like & getrecommendations! Published in 2022 at "Computational and Mathematical Methods in Medicine"
DOI: 10.1155/2022/1643674
Abstract: Background Transforming growth factor beta-induced protein (TGFBI, encoded by TGFBI gene), is an extracellular matrix protein, widely expressed in variety of tissues. It binds to collagens type I, II, and IV and plays important roles… read more here.
Keywords: mechanism tgfbi; tgfbi gene; coexpression genes; gene ... See more keywords
TGFBI gene mutations analysis in Chinese families with corneal dystrophies.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular medicine reports"
DOI: 10.3892/mmr.2017.6414
Abstract: The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI… read more here.
Keywords: gene mutations; corneal dystrophy; tgfbi gene; gene ... See more keywords