Evidence map›Paper›PMID 40138314›Full record

ArticleCell reports2025

The actin and microtubule network regulator WHAMM is identified as a key kidney disease risk gene.

Dhanunjay Mukhi, Lakshmi Prasanna Kolligundla, Tomohito Doke, Magaiver Andrade- Silva, Hongbo Liu, Matthew Palmer, Katalin Susztak

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

7 authors.

Dhanunjay MukhiRenal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA; Penn/CHOP Kidney Innovation Center, University of Pennsylvania, Philadelphia, PA, USA.
Lakshmi Prasanna KolligundlaRenal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA; Penn/CHOP Kidney Innovation Center, University of Pennsylvania, Philadelphia, PA, USA.
Tomohito DokeRenal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA; Penn/CHOP Kidney Innovation Center, University of Pennsylvania, Philadelphia, PA, USA; Department of Nephrology, Nagoya University, Nagoya, Japan.
Magaiver Andrade- SilvaRenal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA; Penn/CHOP Kidney Innovation Center, University of Pennsylvania, Philadelphia, PA, USA; Department of Immunology, University of São Paulo, São Paulo, Brazil.
Hongbo LiuDepartment of Biomedical Genetics, University of Rochester, Rochester, NY, USA.
Matthew PalmerDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Katalin SusztakRenal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA; Penn/CHOP Kidney Innovation Center, University of Pennsylvania, Philadelphia, PA, USA; Institute for Diabetes Obesity and Metabolism, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: ksusztak@pennmedicine.upenn.edu.

Funding

Role of the Notch Pathway in Kidney InjuryR01DK076077 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATALIN SUSZTAK · 2007 to 2026
$8.0M
Epigenetics of Chronic Kidney DiseaseR01DK087635 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATALIN SUSZTAK · 2009 to 2026
$7.0M
APOL1 associated kidney diseaseR01DK105821 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2016 to 2024
$4.6M
The role of cytosolic nucleotide sensors in inflammatory fibrosisR01DK132630 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2022 to 2025
$2.0M
NIDDK NIH HHS R01 DK076077NIDDK NIH HHS R01 DK087635NIDDK NIH HHS R01 DK105821NIDDK NIH HHS R01 DK132630
6 · The paper itself

Abstract

Nearly 850 million people suffer from kidney disease worldwide. Genome-wide association studies identify genetic variations at more than 800 loci associated with kidney dysfunction; however, the target genes, cell types, and mechanisms remain poorly understood. Here, we show that nucleotide variants on chromosome 15 are not only associated with kidney dysfunction but also regulate the expression of Wasp homolog associated with actin, membranes, and microtubules (WHAMM). WHAMM expression is higher in mice and patients with chronic and acute kidney disease. Mice with genetic deletion of Whamm appear healthy at baseline but develop less injury following cisplatin, folic acid, and unilateral ureteral obstruction. In vitro cell studies indicate that WHAMM controls cell death by regulating actin-mediated cytochrome c release from mitochondria and the formation of ASC speck. Pharmacological inhibition of actin dynamics mitigates kidney disease in experimental models. In summary, our study identifies a key role of WHAMM in the development of kidney disease.

Indexed as

ActinsGenetic Predisposition to DiseaseKidney DiseasesMembrane ProteinsMicrotubulesAnimalsHumansMaleMiceMice, Inbred C57BLMitochondriaRisk FactorsActinsMembrane Proteinsactin cytoskeletonAKIautophagycell deathCKDCP: Cell biologyGWASkidney tubulesWASP familyWHAMM

Identifiers

PMID40138314
PMCPMC12181807

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.