Evidence map›Paper›PMID 34209753›Full record

ArticleGenes2021

Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.

Margarita Mauro-Herrera, John Chiang, Bojana Radojevic, Lea D Bennett

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 51% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Margarita Mauro-HerreraDepartment of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73114, USA.
John ChiangMolecular Vision Laboratories, Hillsboro, OR 97006, USA.
Bojana RadojevicDepartment of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73114, USA.
Lea D BennettDepartment of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73114, USA.ORCID 0000-0002-4537-6445
University of Oklahoma Health Sciences Center · US

Funding

Tracking and Evaluation CoreU54GM104938 · NIGMS · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI Robert Hal Scofield · 2013 to 2026
$68.2M
P30-CENTER CORE GRANT FOR VISION RESEARCHP30EY021725 · NEI · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI Michelle C Callegan, MICHAEL H ELLIOTT · 2011 to 2026
$10.5M
NEI NIH HHS P30 EY021725NIGMS NIH HHS U54 GM104938
6 · The paper itself

Abstract

Inherited retinal diseases (IRD) comprise a heterogeneous set of clinical and genetic disorders that lead to blindness. Given the emerging opportunities in precision medicine and gene therapy, it has become increasingly important to determine whether DNA variants with uncertain significance (VUS) are responsible for patients' IRD. This research was performed to assess the functional consequence of six VUS identified in patients with IRD. Clinical assessments included an ophthalmic examination, best-corrected visual acuity, and kinetic perimetry. Imaging was acquired with the Optos ultra-widefield camera and spectral domain optical coherence tomography (SD-OCT). Genetic testing was performed by Molecular Vision Laboratories. VUS that were predicted to alter splicing were analyzed with a minigene assay, which revealed that VUS in the genes

Indexed as

MutationRNA SplicingAnimalsAntigens, NeoplasmChlorocebus aethiopsCOS CellsCyclic Nucleotide-Gated Cation ChannelsGTP PhosphohydrolasesHumansMaleMiddle AgedRetinal DiseasesAntigens, NeoplasmCLUAP1 protein, humanCNGB1 protein, humanCyclic Nucleotide-Gated Cation ChannelsGTP PhosphohydrolasesOPA1 protein, humanfunctional analysisinherited retinal diseaseminigene assayVUS

Identifiers

PMID34209753
PMCPMC8303747
OpenAlexW3172827758

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.