ArticleInternational journal of ophthalmology2013
A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.
Article in International journal of ophthalmology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 21 citations in OpenAlex.
- Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.PloS one · 2013Trial
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and Homeostasis.Frontiers in cell and developmental biology · 2022Review
- Genotype, Age, Genetic Background, and Sex Influence Epha2-Related Cataract Development in Mice.Investigative ophthalmology & visual science · 2021Article
- Targeting EphA2 in cancer.Journal of hematology & oncology · 2020Review
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Identification of seven novelMolecular vision · 2017Article
- Article
- A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.Indian journal of ophthalmology · 2016Article
- Breakdown of interlocking domains may contribute to formation of membranous globules and lens opacity in ephrin-A5(-/-) mice.Experimental eye research · 2016Article
- EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.Molecular vision · 2016Article
- Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).Transactions of the American Ophthalmological Society · 2015Article
- Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.Molecular vision · 2014Article
- Roles of EphA2 in Development and Disease.Genes · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract.
methodsA two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated with congenital posterior cataract were screened by direct DNA sequencing.
resultsAll affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C>T variation in EPHA2 gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls.
conclusionWe report a novel mutation (p. R890C) in the EPHA2 receptor tyrosine kinase gene. The finding expands the mutation spectrum of EPHA2 in association with posterior cataract.
Indexed as
Identifiers
What 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.