ArticleJournal of ophthalmology2019
A Novel Splice-Site Variation in
Article in Journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
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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
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- Exploring biomarkers for keratoconus: current insights and future directions.Molecular biology reports · 2025Review
- Genetics of Keratoconus: A Comprehensive Review.Genes · 2025Review
- Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.Molecular vision · 2025Article
- Article
- Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.Human molecular genetics · 2021Article
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
objectiveThis study aims to clarify the association between keratoconus (KC) and potential pathogenic genetic variants in a three-generation South Indian family.
methodsIn the present study, a three-generation KC family, which comprised 10 affected patients and nine unaffected individuals, was recruited. The family history and necessary ophthalmological exams, such as visual acuity and slit-lamp, were performed for all participants. Genomic DNA was extracted from peripheral blood leukocytes, and whole exome sequencing (WES) was performed using the genomic DNA of the proband (III:4) and two other family members (III:2, III:3). The acceptor-splice-site mutation was validated and verified using polymerase chain reaction (PCR) and Sanger sequencing. Gene functions and pathways associated with the identified mutations were subjected to
resultsA novel
conclusionThe present study confirmed the association between the
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.