Evidence map›Paper›PMID 39292749›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2024

Etiology of craniofacial and cardiac malformations in a mouse model of

Shruti Kumar, Eric Bareke, Jimmy Lee, Emma Carlson, Fjodor Merkuri, Evelyn E Schwager, Steven Maglio, Jennifer L Fish, Jacek Majewski, Loydie A Jerome-Majewska

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.Developmental dynamics : an official publication of the American Association of Anatomists · 2025
    Article
  7. Exploration of the association betweenWorld journal of gastrointestinal oncology · 2025
    Article
  8. Y4 RNA fragment alleviates myocardial injury in heart transplantation via SNRNP200 to enhance IL-10 mRNA splicing.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Article
  9. Article
  10. Article
  11. Review
  12. Etiology of craniofacial and cardiac malformations in a mouse model ofProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
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

10 authors.

Shruti KumarDepartment of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.ORCID 0009-0000-2181-4319
Eric BarekeDepartment of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
Jimmy LeeDivision of Experimental Medicine, Faculty of Medicine, McGill University, Montreal, QC H3A 0G1, Canada.
Emma CarlsonDepartment of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
Fjodor MerkuriDepartment of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854.
Evelyn E SchwagerDepartment of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854.
Steven MaglioDepartment of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854.
Jennifer L FishDepartment of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854.
Jacek MajewskiDepartment of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
Loydie A Jerome-MajewskaDepartment of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.

Funding

Azrieli Foundation (La Fondation Azrieli) N/ACanadian Government | Canadian Institutes of Health Research (CIHR) 202203PJT-480346-DEV-CFAC-157303
6 · The paper itself

Abstract

Pathogenic variants in SF3B4, a component of the U2 snRNP complex important for branchpoint sequence recognition and splicing, are responsible for the acrofacial disorders Nager and Rodriguez Syndrome, also known as

Indexed as

Craniofacial AbnormalitiesDisease Models, AnimalHeart Defects, CongenitalNeural CrestRNA Splicing FactorsAnimalsExonsHumansMiceRNA SplicingRNA Splicing Factorscraniofacialmouse modelRNAseqSf3b4splicing

Identifiers

PMID39292749
PMCPMC11441570

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.