Evidence map›Paper›PMID 42091926›Full record

ReviewNPJ genomic medicine2026

Bridging the gap: an emerging link between tubulinopathies and ciliopathies.

Sydney Steiman, Safia Omer, Stephen Pastore, Evgueni A Ivakine

Abstract readReview
In one paragraph

Review in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

4 authors.

Sydney SteimanGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Safia OmerGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Stephen PastoreGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Evgueni A IvakineGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. zhenya.ivakine@sickkids.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic neurodevelopmental disorders arise from variants in genes critical for brain development, including those causing ciliopathies and tubulinopathies. Both disorders are linked to brain malformations, intellectual disability, and motor impairments. Since cilia rely on microtubules for ciliogenesis, axoneme formation, and intraflagellar transport, defects in tubulin genes can directly disrupt ciliary function. This review highlights emerging evidence connecting these two disease groups and reveals how tubulin variants impact ciliopathy mechanisms.

Identifiers

PMID42091926
PMCPMC13351064

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.