Evidence map›Paper›PMID 42045859›Full record

ArticleBMC nephrology2026

Multi-organ single-cell analysis of preferential expression of CAKUT genes.

Mara Pflugfelder, Antonia Eberts, Vera Koch, Illya Martynov, Carlo Maj, Guido Seitz, Johannes Schumacher, Mohammad Reza Vahdad, Pouria Dasmeh

Abstract read
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Article in BMC nephrology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Mara Pflugfelder *Center for Human Genetics, Philipps University of Marburg, Marburg, Germany.
Antonia Eberts *Center for Human Genetics, Philipps University of Marburg, Marburg, Germany.
Vera KochCenter for Human Genetics, Philipps University of Marburg, Marburg, Germany.
Illya MartynovDepartment of Pediatric Surgery and Pediatric Urology, University Hospital Giessen-Marburg, Marburg, Germany.
Carlo MajCenter for Human Genetics, Philipps University of Marburg, Marburg, Germany.
Guido SeitzDepartment of Pediatric Surgery and Pediatric Urology, University Hospital Giessen-Marburg, Marburg, Germany.
Johannes SchumacherCenter for Human Genetics, Philipps University of Marburg, Marburg, Germany.
Mohammad Reza Vahdad *Department of Pediatric Surgery and Pediatric Urology, University Hospital Giessen-Marburg, Marburg, Germany. vahdad@med-uni-marburg.de.
Pouria Dasmeh *Center for Human Genetics, Philipps University of Marburg, Marburg, Germany. dasmeh@staff.uni-marburg.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of developmental disorders with diverse genetic etiologies. However, it remains unclear whether these genetic factors converge on shared cellular programs across development and tissues.

methodsWe analyzed the expression of 91 curated CAKUT-associated genes across publicly available single-cell RNA sequencing datasets from human fetal and adult kidney, ureter, and bladder. These data were complemented by early embryonic transcriptomic profiles to characterize temporal expression dynamics and cell-type specificity.

resultsDuring kidney development, key CAKUT genes, including EYA1, SIX1, PAX2, and FOXC1, showed strong preferential expression in mesangial and mesonephric nephron tubule epithelial cells, highlighting early roles in ureteric bud induction and branching morphogenesis. Temporal analysis identified two distinct expression patterns: an early-peak group (EYA1, SIX1, SIX2, PAX2, ITGA8) with maximal expression during early nephrogenesis followed by decline, and a late-rise group, including MUC1, with increasing expression toward adult stages. Across tissues, CAKUT genes exhibited a conserved enrichment in stromal and mesenchymal cell populations.

conclusionsOur findings reveal a shared stromal-mesenchymal gene expression signature underlying CAKUT pathogenesis. These results suggest that diverse genetic perturbations may converge on early mesodermal lineage programs that are critical for ureteric bud formation and kidney patterning, providing a unifying cellular framework for understanding CAKUT.

Indexed as

KidneySingle-Cell AnalysisUrinary TractVesico-Ureteral RefluxForkhead Transcription FactorsGene Expression Regulation, DevelopmentalHomeodomain ProteinsHumansIntracellular Signaling Peptides and ProteinsNuclear ProteinsPAX2 Transcription FactorProtein Tyrosine PhosphatasesSingle-Cell Gene Expression AnalysisUrogenital AbnormalitiesEYA1 protein, humanForkhead Transcription FactorsHomeodomain ProteinsIntracellular Signaling Peptides and ProteinsNuclear ProteinsPAX2 protein, humanPAX2 Transcription FactorProtein Tyrosine PhosphatasesSIX1 protein, humanCAKUTCell TypesDevelopmentFetal kidneySingle-cell transcriptomics

Identifiers

PMID42045859
PMCPMC13134259

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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 Socratic graph.