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
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In one paragraphArticle 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.
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0citing papers in PubMed
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1 · What the graph read from itWhat 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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors 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 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
$4.2MMechanism 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
$428kDe 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
$102kNHGRI NIH HHS T32 HG009495NICHD NIH HHS F30 HD112125NINDS NIH HHS K08 NS109281
6 · The paper itselfAbstract
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
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