Evidence map›Paper›PMID 37885358›Full record

ArticleEMBO molecular medicine2023

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.

Guglielmo Schiano, Jennifer Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Olinger, Olivier Devuyst

Open access · goldAbstract read
In one paragraph

Article in EMBO molecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.8field-weighted citation impact, top 8% 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

12 citing papers in PubMed, 11 citations in OpenAlex.

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  7. A PartialKidney medicine · 2026
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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

8 authors at 3 institutions in 4 countries.

Guglielmo Schiano *Mechanisms of Inherited Kidney Disorders, Institute of Physiology, University of Zurich, Zurich, Switzerland.ORCID 0000-0002-3549-7796
Jennifer Lake *Mechanisms of Inherited Kidney Disorders, Institute of Physiology, University of Zurich, Zurich, Switzerland.ORCID 0000-0002-9617-7438
Marta Mariniello *Mechanisms of Inherited Kidney Disorders, Institute of Physiology, University of Zurich, Zurich, Switzerland.ORCID 0000-0002-8254-3505
Céline SchaefferMolecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.ORCID 0000-0001-5883-3951
Marianne HarventMechanisms of Inherited Kidney Disorders, Institute of Physiology, University of Zurich, Zurich, Switzerland.
Luca RampoldiMolecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.ORCID 0000-0002-0544-7042
Eric OlingerMechanisms of Inherited Kidney Disorders, Institute of Physiology, University of Zurich, Zurich, Switzerland.ORCID 0000-0003-1178-7980
Olivier DevuystMechanisms of Inherited Kidney Disorders, Institute of Physiology, University of Zurich, Zurich, Switzerland.ORCID 0000-0003-3744-4767
University of Zurich · CHVita-Salute San Raffaele University · ITCliniques Universitaires Saint-Luc · BE

Funding

Medical Research Council MR/Y007808/1
6 · The paper itself

Abstract

Missense mutations in the uromodulin (UMOD) gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney diseases. The unknown impact of the allelic and gene dosage effects and fate of mutant uromodulin leaves open the gap between postulated gain-of-function mutations, end-organ damage and disease progression in ADTKD. Based on two prevalent missense UMOD mutations with divergent disease progression, we generated Umod

Indexed as

KidneyKidney DiseasesAllelesAnimalsDisease ProgressionMiceMutationUromodulinUmod protein, mouseUromodulinADTKD-UMODaggregatesgain-of-functionkidney fibrosisunfolded protein response

Identifiers

PMID37885358
PMCPMC10701617
OpenAlexW4387965871

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.