Evidence map›Paper›PMID 40297416›Full record

ArticlemedRxiv : the preprint server for health sciences2025

A novel splice site variant in

Holly C Beale, Victor Tse, Joanna Y Lee, Jon Akutagawa, Yusuph Mavura, Brandon Saint-John, Allison Cheney, Dennis R Mulligan, Guillermo Chacaltana, Martin Gutierrez and 15 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

5 · Who and what money

Authors and funding

25 authors.

Holly C BealeDepartment of Molecular, Cell and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.ORCID 0000-0003-4091-538X
Victor TseDepartment of Molecular, Cell and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.ORCID 0009-0001-2072-591X
Joanna Y LeeDepartment of Pediatrics, University of California San Francisco, San Francisco, CA, 94143, USA.
Jon AkutagawaGenomics Institute, University of California Santa Cruz, Santa Cruz, CA, 95060, USA.ORCID 0000-0003-3077-6750
Yusuph MavuraInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.ORCID 0000-0001-8527-0736
Brandon Saint-JohnDepartment of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.ORCID 0000-0003-3143-3856
Allison CheneyDepartment of Molecular, Cell and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.
Dennis R MulliganDepartment of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.
Guillermo ChacaltanaCenter for Molecular Biology of RNA, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.
Martin GutierrezDepartment of Molecular, Cell and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.
Jessica TenneyDepartment of Pediatrics, University of California San Francisco, San Francisco, CA, 94143, USA.
Joseph T ShiehDepartment of Pediatrics, University of California San Francisco, San Francisco, CA, 94143, USA.
Pierre-Marie MartinInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.
Tiffany YipDepartment of Pediatrics, University of California San Francisco, San Francisco, CA, 94143, USA.
Ugur HodoglugilInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.
Alex J FayDepartment of Neurology, University of California San Francisco, San Francisco, CA, 94143, USA.
Angela N BrooksGenomics Institute, University of California Santa Cruz, Santa Cruz, CA, 95060, USA.ORCID 0000-0002-7898-3073
Jessica Van ZiffleInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.
Michael D StoneCenter for Molecular Biology of RNA, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.
Neil RischInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.
Jeremy R SanfordDepartment of Molecular, Cell and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.ORCID 0000-0002-1131-1627
Patrick DevineInstitute for Human Genetics, University of California San Francisco, San Francisco, CA, 94143, USA.
Julie D SabaDepartment of Pediatrics, University of California San Francisco, San Francisco, CA, 94143, USA.
Olena M VaskeDepartment of Molecular, Cell and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, 95064, USA.
Anne SlavotinekDepartment of Pediatrics, University of California San Francisco, San Francisco, CA, 94143, USA.

Funding

Sharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3M
Structure and dynamics of the Tetrahymena telomerase ribonucleoproteinR01GM095850 · NIGMS · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI STONE, MICHAEL D · 2011 to 2023
$4.4M
Regulation of mRNA FateR35GM130361 · NIGMS · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Jeremy Robert Sanford · 2019 to 2026
$3.1M
Training Program in Molecular, Cell, and Developmental BiologyT32GM133391 · NIGMS · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Needhi Bhalla · 2019 to 2026
$3.0M
Novel approaches to improve comprehensive profiling of the epigenome and epitranscriptomeR35GM138122 · NIGMS · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Angela Norie Brooks · 2020 to 2026
$2.8M
Structure and Dynamics of Telomeres and TelomeraseR35GM153235 · NIGMS · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Michael D Stone · 2024 to 2026
$1.3M
Regulation of mRNA isoform fateR01GM109146 · NIGMS · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI SANFORD, JEREMY ROBERT · 2014 to 2017
$1.2M
Validating absolute lymphocyte count and plasma sphingosine-1-phosphate as disease biomarkers of sphingosine phosphate lyase insufficiency syndrome in anticipation of a pyridoxine clinical trialR21TR004262 · NCATS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SABA, JULIE D · 2022 to 2023
$444k
NCATS NIH HHS R21 TR004262NHGRI NIH HHS U01 HG009599NIGMS NIH HHS R01 GM095850NIGMS NIH HHS R01 GM109146NIGMS NIH HHS R35 GM130361NIGMS NIH HHS R35 GM138122NIGMS NIH HHS R35 GM153235NIGMS NIH HHS T32 GM133391
6 · The paper itself

Abstract

Purpose: Pathogenic Methods: We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect and characterize the splice site variant. We then performed RNA structure probing and conventional antisense oligonucleotide screening to investigate molecular mechanisms for potential therapeutic intervention. Results: A homozygous, Discussion: Our RNA and lipidomic evidence proved that the

Identifiers

PMID40297416
PMCPMC12036379

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.