ReviewMolecular vision2010
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.
Review in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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Who cites it
31 citing papers in PubMed, 51 citations in OpenAlex.
- Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population.Scientific reports · 2025Article
- Molecular genetic analysis of R124H TGFBIp in one family Avellino corneal dystrophy.Molecular vision · 2024Article
- Corneal irregularity and visual function using anterior segment optical coherence tomography in TGFBI corneal dystrophy.Scientific reports · 2022Article
- Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.International journal of molecular sciences · 2021Article
- Prevalence of granular corneal dystrophy type 2-relatedMolecular vision · 2021Article
- A pathogenic variant in the transforming growth factor beta I (Iranian journal of basic medical sciences · 2020Article
- TGF-β1 enhanced myocardial differentiation through inhibition of the Wnt/β-catenin pathway with rat BMSCs.Iranian journal of basic medical sciences · 2020Article
- Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.Turkish journal of ophthalmology · 2020Article
- A recognition survey of granular corneal dystrophy type 2 genetic detection in China.International journal of ophthalmology · 2020Article
- Generation of TGFBI knockout ABCG2+/ABCB5+ double-positive limbal epithelial stem cells by CRISPR/Cas9-mediated genome editing.PloS one · 2019Article
- Identification of a Heterozygous Mutation in theJournal of ophthalmology · 2019Article
- Analysis ofJournal of ophthalmology · 2019Article
- Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2017Article
- Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients.The Biochemical journal · 2017Article
- TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China.Scientific reports · 2017Article
- Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.Cornea · 2017Article
- Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients.International journal of ophthalmology · 2016Article
- Article
- Fibril Core of Transforming Growth Factor Beta-Induced Protein (TGFBIp) Facilitates Aggregation of Corneal TGFBIp.Biochemistry · 2015Article
- First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.Case reports in ophthalmology · 2014Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo analyze human transforming growth factor b-induced (TGFBI) gene mutations in Chinese patients with corneal dystrophies (CDs).
methodsTwenty-one families with corneal dystrophies were subjected to phenotypic and genotypic characterization. The corneal phenotypes of patients were documented by slit lamp photography. Mutation screening of the coding regions of TGFBI was performed by direct sequencing. An additional 43 families and 3 sporadic patients with TGFBI dystrophies from China reported in the literature were reviewed.
resultsFive mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD. In a cohort of Chinese patients (n=355) with TGFBI dystrophies from 64 families and 3 sporadic cases, 19 distinct mutations were found in several different CD subtypes. The 3 most common phenotypes were ranked as follows: GCD1, GCD2, and LCD1. Mutation hot spots at R124 and R555 occurred in >80% of these families.
conclusionsOur findings extend the mutational spectrum of TFGBI, and this is also the first extensively delineated TGFBI mutation profile associated with the various corneal dystrophies in the Chinese population.
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20664689PMC2901189W1487688070What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.