Evidence map›Paper›PMID 39879322›Full record

ArticleScience translational medicine2025

Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.

Steven L Brody, Jiehong Pan, Tao Huang, Jian Xu, Huihui Xu, Jeffrey R Koenitizer, Steven K Brennan, Rashmi Nanjundappa, Thomas G Saba, Nisreen Rumman and 7 more

Abstract read
In one paragraph

Article in Science translational medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
–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

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivo.American journal of respiratory cell and molecular biology · 2026
    Article
  3. Science advances · 2026
    Article
  4. Preclinical human models of primary ciliary dyskinesia.European respiratory review : an official journal of the European Respiratory Society · 2026
    Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Review
  12. Article
  13. Mouse radial spoke 3 is a metabolic and regulatory hub in cilia.Nature structural & molecular biology · 2025
    Article
  14. Article
  15. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Steven L BrodyDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0002-0905-7527
Jiehong PanDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0003-2384-6845
Tao HuangDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0001-6955-5184
Jian XuDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0003-4050-0168
Huihui XuDepartment of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0001-6519-1504
Jeffrey R KoenitizerDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0002-4556-8455
Steven K BrennanDepartment of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0002-9445-8148
Rashmi NanjundappaDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0003-3621-4628
Thomas G SabaDepartment of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48108, USA.
Nisreen RummanDepartment of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0001-6493-1515
Andrew BericalCenter for Regenerative Medicine, Boston University, Boston, MA 02118, USA.ORCID 0000-0002-0818-0259
Finn J HawkinsCenter for Regenerative Medicine, Boston University, Boston, MA 02118, USA.ORCID 0000-0002-2246-6448
Xiangli WangDepartment of Biochemistry and Molecular Biophysics, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Rui ZhangDepartment of Biochemistry and Molecular Biophysics, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0003-3159-9565
Moe R MahjoubDepartment of Medicine, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0001-8129-7464
Amjad HoraniDepartment of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0002-5352-1948
Susan K DutcherDepartment of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA.ORCID 0000-0001-5689-5753

Funding

Washington University Center for Cellular ImagingP30CA091842 · NCI · WASHINGTON UNIVERSITY · PI TIMOTHY J. EBERLEIN · 2001 to 2026
$128.0M
Washington University Rheumatic DiseasesResearch Resource-based CenterP30AR073752 · NIAMS · WASHINGTON UNIVERSITY · PI Alfred Hyoungju Kim · 2018 to 2026
$7.6M
REGULATION OF MOTILE CILIA ASSEMBLY IN LUNG DISEASER01HL128370 · NHLBI · WASHINGTON UNIVERSITY · PI Steven Brody, SUSAN K DUTCHER · 2015 to 2026
$6.9M
Genetic Analysis of Centrioles and CiliaR35GM131909 · NIGMS · WASHINGTON UNIVERSITY · PI SUSAN K DUTCHER · 2019 to 2026
$3.0M
Cellular and Molecular Features of Gene Mutations in Primary Ciliary DyskinesiaR01HL146601 · NHLBI · WASHINGTON UNIVERSITY · PI BRODY, STEVEN · 2019 to 2022
$2.3M
iPSC-Derived Airway Basal Cells to Model Human Airway Development and DiseaseR01HL139799 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI HAWKINS, FINN · 2018 to 2022
$2.1M
Structural and functional studies of axonemal microtubule inner proteins (MIPs)R01GM138854 · NIGMS · WASHINGTON UNIVERSITY · PI ZHANG, RUI · 2020 to 2024
$2.0M
NRF2 activation program in normal and immotile ciliaR01HL173490 · NHLBI · WASHINGTON UNIVERSITY · PI Amjad Horani · 2024 to 2026
$1.8M
The Role of Dynein Motor Mutations in Motile Cilia DiseaseK08HL150223 · NHLBI · WASHINGTON UNIVERSITY · PI HORANI, AMJAD · 2020 to 2024
$797k
NCI NIH HHS P30 CA091842NHLBI NIH HHS K08 HL150223NHLBI NIH HHS R01 HL128370NHLBI NIH HHS R01 HL139799NHLBI NIH HHS R01 HL146601NHLBI NIH HHS R01 HL173490NIAMS NIH HHS P30 AR073752NIGMS NIH HHS R01 GM138854NIGMS NIH HHS R35 GM131909
6 · The paper itself

Abstract

Primary ciliary dyskinesia is a rare monogenic syndrome that is associated with chronic respiratory disease, infertility, and laterality defects. Although more than 50 genes causative of primary ciliary dyskinesia have been identified, variants in the genes encoding coiled-coil domain-containing 39 (CCDC39) and CCDC40 in particular cause severe disease that is not explained by loss of ciliary motility alone. Here, we sought to understand the consequences of these variants on cellular functions beyond impaired motility. We used human cells with pathogenic variants in

Indexed as

Cell LineageCiliaCiliary Motility DisordersKartagener SyndromeProteostasisChlamydomonas reinhardtiiHumansMicrotubules

Identifiers

PMID39879322
PMCPMC12108131

What OpenQuestion holds

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Registered trials

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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.