ArticleMolecular vision2019
Functional characterization of a novel
Article in Molecular vision, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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
2 citing papers in PubMed, 2 citations in OpenAlex.
- Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.Human molecular genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To elucidate the clinical phenotypes and pathogenesis of a novel missense mutation in Methods: The members of a family with adCOD were clinically evaluated. Relevant genes were captured before being sequenced with targeted next-generation sequencing and confirmed with Sanger sequencing. Sequence analysis was made of the conservativeness of mutant residues. An enzyme-linked immunosorbent assay (ELISA) was implemented to detect the cyclic guanosine monophosphate (cGMP) concentration. Then limited protein hydrolysis and an electrophoresis shift were used to assess possible changes in the structure. Coimmunoprecipitation was employed to analyze the interaction between GCAP1 and retGC1. Immunofluorescence staining was performed to observe the colocalization of GCAP1 and retGC1 in human embryonic kidney (HEK)-293 cells. Results: A pathogenic mutation in Conclusions: The newly discovered missense mutation in
Indexed as
Identifiers
32025184PMC6982429W3003788136What 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.