Evidence map›Paper›PMID 34548398›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2021

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.

Maike Getwan, Anselm Hoppmann, Pascal Schlosser, Kelli Grand, Weiting Song, Rebecca Diehl, Sophie Schroda, Florian Heeg, Konstantin Deutsch, Friedhelm Hildebrandt and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
4.7field-weighted citation impact, top 5% of its field
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

11 citing papers in PubMed, 29 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. NAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Article
  5. Article
  6. Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024
    Article
  7. Review
  8. Article
  9. Paralog-specific TTC30 regulation of Sonic hedgehog signaling.Frontiers in molecular biosciences · 2023
    Article
  10. Article
  11. 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

13 authors at 2 institutions in 3 countries.

Maike GetwanInstitute of Anatomy, University of Zurich, 8057 Zurich, Switzerland.ORCID 0000-0002-9906-9985
Anselm HoppmannInstitute of Genetic Epidemiology, Faculty of Medicine, Medical Center - University of Freiburg, 79110 Freiburg, Germany.
Pascal SchlosserInstitute of Genetic Epidemiology, Faculty of Medicine, Medical Center - University of Freiburg, 79110 Freiburg, Germany.ORCID 0000-0002-8460-0462
Kelli GrandInstitute of Anatomy, University of Zurich, 8057 Zurich, Switzerland.ORCID 0000-0002-1756-0544
Weiting SongRenal Division, Department of Medicine, Faculty of Medicine, Medical Center - University of Freiburg, 79110 Freiburg, Germany.
Rebecca DiehlRenal Division, Department of Medicine, Faculty of Medicine, Medical Center - University of Freiburg, 79110 Freiburg, Germany.
Sophie SchrodaRenal Division, Department of Medicine, Faculty of Medicine, Medical Center - University of Freiburg, 79110 Freiburg, Germany.
Florian HeegRenal Division, Department of Medicine, Faculty of Medicine, Medical Center - University of Freiburg, 79110 Freiburg, Germany.ORCID 0000-0002-2028-5555
Konstantin DeutschDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.ORCID 0000-0003-2952-5030
Friedhelm HildebrandtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Ekkehart LauschDepartment of Pediatrics, Faculty of Medicine, Medical Center - University of Freiburg, 79110 Freiburg, Germany.
Anna KöttgenInstitute of Genetic Epidemiology, Faculty of Medicine, Medical Center - University of Freiburg, 79110 Freiburg, Germany.
Soeren S LienkampInstitute of Anatomy, University of Zurich, 8057 Zurich, Switzerland; soeren.lienkamp@uzh.ch.ORCID 0000-0003-2963-6865
University of Freiburg · DEBoston Children's Hospital · US

Funding

Novel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6M
NIDDK NIH HHS R01 DK068306
6 · The paper itself

Abstract

Skeletal ciliopathies (e.g., Jeune syndrome, short rib polydactyly syndrome, and Sensenbrenner syndrome) are frequently associated with nephronophthisis-like cystic kidney disease and other organ manifestations. Despite recent progress in genetic mapping of causative loci, a common molecular mechanism of cartilage defects and cystic kidneys has remained elusive. Targeting two ciliary chondrodysplasia loci (

Indexed as

AnimalsBone and BonesCiliopathiesCraniosynostosesCytoskeletal ProteinsDisease Models, AnimalEctodermal DysplasiaEmbryo, NonmammalianMusculoskeletal AbnormalitiesPhenotypePolycystic Kidney DiseasesTubulinXenopus laevisCytoskeletal ProteinsTubulinchondrodysplasiaciliacystic kidney diseasetubulin modificationsXenopus

Identifiers

PMID34548398
PMCPMC8488674
OpenAlexW3199882525

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.