ArticleMolecular vision2011
Molecular genetics of Chinese families with TGFBI corneal dystrophies.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.International journal of molecular sciences · 2021Article
- Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report.BMC medical genomics · 2021Article
- Analysis ofJournal of ophthalmology · 2019Article
- Identification of a Heterozygous Mutation in theJournal of ophthalmology · 2019Article
- Genetic analysis ofMolecular vision · 2016Article
- Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.Annals of laboratory medicine · 2015Article
- TGFBI gene mutations in a Korean population with corneal dystrophy.Molecular vision · 2012Article
- Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.Molecular vision · 2011Article
- TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy.International journal of ophthalmology · 2011Article
- An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.Molecular vision · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2).
methodsClinical features of GCD1 and GCD2 in three Chinese families were studied with slit-lamp and in vivo laser scanning confocal microscopy (LSCM). Molecular genetic analysis was performed on nine patients and fifteen unaffected individuals from these families. All exons of TGFBI were amplified by polymerase chain reaction (PCR) and sequenced.
resultsMorphological changes in the cornea among affected individuals from three Chinese families examined by in vivo LSCM were almost the same. A heterozygous mutation C>T (R555W) was identified in exon 12 of TGFBI in patients of family A with GCD1. Another heterozygous mutation G>A (R124H) was found in exon 4 of TGFBI in affected members of family B and C with GCD2.
conclusionsMutations R555W and R124H in TGFBI were identified in three Chinese families with GCD. Even though there are a variety of mutations in TGFBI of GCD, the different subtypes of GCD (GCD1, GCD2, and GCD3) are in fact the same disorder. Our work supports the hypothesis that corneal dystrophies with the common genetic basis in TGFBI should be grouped together as TGFBI corneal dystrophies.
Indexed as
Identifiers
21311742PMC3036564W2203641539What 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.