Evidence map›Paper›PMID 40806783›Full record

ArticleInternational journal of molecular sciences2025

CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.

Anna G Demchenko, Tatiana A Kyian, Elena I Kondratyeva, Elizaveta E Bragina, Oksana P Ryzhkova, Roman V Veiko, Aleksandra G Nazarova, Vyacheslav B Chernykh, Svetlana A Smirnikhina, Sergey I Kutsev

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 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. 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

10 authors.

Anna G DemchenkoLaboratory of Genome Editing, Research Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-4460-7627
Tatiana A KyianScientific and Clinical Department of Cystic Fibrosis, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Elena I KondratyevaScientific and Clinical Department of Cystic Fibrosis, Research Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-6395-0407
Elizaveta E BraginaLaboratory of Genetics of Reproductive Disorders, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Oksana P RyzhkovaLaboratory of Molecular Genetic Diagnosis 1, Research Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-1285-9093
Roman V VeikoLaboratory of Molecular Biology, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Aleksandra G NazarovaLaboratory of Genome Editing, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Vyacheslav B ChernykhLaboratory of Genetics of Reproductive Disorders, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Svetlana A SmirnikhinaLaboratory of Genome Editing, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Sergey I KutsevAdministration, Research Centre for Medical Genetics, 115522 Moscow, Russia.

Funding

The Ministry of Science and Higher Education of the Russian Federation (the Federal Scientific-technical program for genetic technologies development for 2019-2030, agreement) № 075-15-2025-481
6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by impaired mucociliary clearance due to defects in motile cilia. This study investigates the impact of loss-of-function mutations in the

Indexed as

CiliaCiliary Motility DisordersCytoskeletal ProteinsAdultCase-Control StudiesCell Culture TechniquesFemaleHumansLoss of Function MutationMaleCFAP300 protein, humanCytoskeletal Proteinsair–liquid interface cultureCFAP300immunofluorescenceprimary ciliary dyskinesiatransmission electron microscopy

Identifiers

PMID40806783
PMCPMC12347484

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.