Evidence map›Paper›PMID 41279107›Full record

ArticlebioRxiv : the preprint server for biology2025

Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome.

Kelleen E McEntee, Bailey L McCurdy, Austin Larson, Emily A McCourt, Michael L Kaufman, Amy E Campbell, Chad G Pearson, Scott Demarest, J Matthew Taliaferro, Jay R Hesselberth and 1 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Kelleen E McEnteeDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Bailey L McCurdyDepartment of Cell and Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Austin LarsonDepartment of Pediatrics, Section of Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Emily A McCourtDepartment of Ophthalmology, University of Colorado School of Medicine, Children's Hospital of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Michael L KaufmanRNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Amy E CampbellDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Chad G PearsonDepartment of Cell and Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Scott DemarestDepartments of Pediatrics and Neurology, Children's Hospital of Colorado, Aurora, CO 80045, USA.
J Matthew TaliaferroDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Jay R HesselberthDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Sujatha JagannathanDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Funding

Nanopore analysis of transfer RNA forms and functionsR35GM119550 · NIGMS · UNIVERSITY OF COLORADO DENVER · PI Jay R Hesselberth · 2016 to 2026
$4.5M
Understanding the regulatory language of RNA localizationR35GM133385 · NIGMS · UNIVERSITY OF COLORADO DENVER · PI Jefferson Matthew Taliaferro · 2019 to 2026
$3.4M
Understanding the variability in nonsense-mediated RNA decayR35GM133433 · NIGMS · UNIVERSITY OF COLORADO DENVER · PI Sujatha Jagannathan · 2019 to 2026
$3.1M
NIGMS NIH HHS R35 GM119550NIGMS NIH HHS R35 GM133385NIGMS NIH HHS R35 GM133433
6 · The paper itself

Abstract

Bardet-Biedl Syndrome (BBS) is a ciliopathy often associated with progressive blindness and obesity. A patient presenting with BBS was discovered to have two mutations within 55bp of each other in intron 7 of

Indexed as

ASOBardet-Beidl SyndromeciliopathyN-of-oneSDCCAG8splicing

Identifiers

PMID41279107
PMCPMC12632990

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.