Evidence map›Paper›PMID 41040160›Full record

ArticlebioRxiv : the preprint server for biology2025

TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses.

Abdias Diaz-Rosado, Kelly Clark, Rajesh Angireddy, Michael Gilbert, Annabel Sangree, Jan Oppelt, Nicholas Vrettos, Emily L Durham, Elizabeth Gonzalez, Emily E Lubin and 4 more

Abstract readPreprint
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

14 authors.

Abdias Diaz-RosadoCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0002-6655-8854
Kelly ClarkCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0009-0009-2801-7588
Rajesh AngireddyCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0002-9215-2209
Michael GilbertSmilow Center for Translational Research, University of Pennsylvania, Philadelphia PA.ORCID 0000-0002-6574-9069
Annabel SangreeCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0002-0298-1856
Jan OppeltDepartment of Pathology and Laboratory Medicine, Philadelphia PA.ORCID 0000-0002-3076-4840
Nicholas VrettosDepartment of Pathology and Laboratory Medicine, Philadelphia PA.ORCID 0000-0001-7803-6570
Emily L DurhamCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0002-6322-9393
Elizabeth GonzalezCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0001-6424-1522
Emily E LubinCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0002-6277-1156
Ashley MelendezCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0009-0001-4693-4306
Dana Layo-CarrisCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0001-7009-0652
Kaitlin A KatsuraCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0001-7977-185X
Elizabeth BhojCenter for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia PA.ORCID 0000-0001-5748-3507

Funding

Postdoctoral Training Program in Genomic MedicineT32HG009495 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Katherine L. Nathanson, Bogdan Pasaniuc · 2017 to 2026
$4.2M
Mechanism of disease in TBCK-related intellectual disability syndrome, a novel neurodegenerative disorder with mTOR dysfunctionK08NS109281 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI BHOJ, ELIZABETH JOYCE · 2019 to 2021
$428k
De novo mutations in replication-independent histone genes and an unexplored class of rare pediatric mendelian syndromesF30HD112125 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI Emily Elizabeth Lubin · 2024 to 2026
$102k
NHGRI NIH HHS T32 HG009495NICHD NIH HHS F30 HD112125NINDS NIH HHS K08 NS109281
6 · The paper itself

Abstract

TBC1 domain-containing kinase (TBCK) is an important protein with implications in brain development. Biallelic variants in the

Indexed as

isoformsmiRNAsmulti-omicsproteomicsribosomessplicingTBCK Syndrometranscriptomics

Identifiers

PMID41040160
PMCPMC12486131

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.