ReviewCellular and molecular life sciences : CMLS2026
Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.
Review in Cellular and molecular life sciences : CMLS, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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.
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.
Who cites it
1 citing paper in PubMed.
- Mechanoresponsive modulation of nuclear pore complex structure and function bybioRxiv : the preprint server for biology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nuclear pore complexes serve as essential gatekeepers of the nuclear envelope, playing crucial roles in regulating transport across the nuclear envelope and maintaining compartmentalization between the nucleus and cytoplasm. While they are fundamental to all nucleated cells, the nucleoporins that make up these complexes are associated with various inherited diseases, often affecting specific cells, tissues, or organs. In this overview, we describe the clinical features, summarize genotype-phenotype correlations at the level of individual genes and specific alleles, and relate this information to insights from cellular biology regarding nucleoporins to illuminate potential disease mechanisms. Our aim is to include significant clinical perspectives that are frequently overlooked in standard cell biology reviews, while ensuring accessibility for readers without a medical background. At the same time, we hope to provide valuable insights for geneticists and clinicians interested in the discussed pathologies, but may have limited background in molecular cell biology. Mutations in nucleoporin-encoding genes, the proteins that form nuclear pore complexes, are associated with various hereditary diseases. We summarize our emerging knowledge to connect clinical manifestations with insights from cell biology.
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Registered trials
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.