Evidence map›Paper›PMID 41081049›Full record

ReviewFrontiers in cell and developmental biology2025

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms.

Casey Griffin

Abstract readReview
In one paragraph

Review in Frontiers in cell and developmental biology, 2025. 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
–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

2 citing papers in PubMed.

  1. Article
  2. Neurodegenerative spliceosomopathies.Frontiers in cell and developmental biology · 2026
    Review
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

1 author.

Casey GriffinDepartment of Molecular Pathobiology, College of Dentistry, New York University, New York, United States.

Funding

Deciphering the underlying mechanisms of craniofacial spliceosomopathiesK99DE034476 · NIDCR · NEW YORK UNIVERSITY · PI GRIFFIN, CASEY · 2024 to 2025
$251k
NIDCR NIH HHS K99 DE034476
6 · The paper itself

Abstract

Craniofacial spliceosomopathies are syndromes resulting from mutations in components of the spliceosome, presenting with facial dysostosis in combination with other phenotypes. An outstanding question in the field is how mutations in the ubiquitously expressed spliceosome lead to such cell- and tissue-specific disorders. To understand the etiology of these diseases and decipher the underlying mechanisms, scientists have turned to modeling these disorders in the laboratory.

Indexed as

craniofacial spliceosomopathiesin vitroin vivoneural crestspliceosome

Identifiers

PMID41081049
PMCPMC12510987

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.