Evidence map›Paper›PMID 41249932›Full record

ArticleBMC genomics2025

Comprehensive androgen-dependent transcriptome analysis in human genital tissue.

Radhika Sivaprasad, Kristian Händler, Almuth Caliebe, Malte Spielmann, Paul-Martin Holterhus, Nadine C Hornig

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PubMed Full text at PMC Publisher
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Article in BMC genomics, 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

6 authors.

Radhika SivaprasadInstitute of Human Genetics, University Hospital of Schleswig-Holstein, Kiel University, Kiel, Germany.
Kristian HändlerInstitute of Human Genetics, University Hospital of Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck and Kiel , Germany.
Almuth CaliebeInstitute of Human Genetics, University Hospital of Schleswig-Holstein, Kiel University, Kiel, Germany.
Malte SpielmannInstitute of Human Genetics, University Hospital of Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck and Kiel , Germany.
Paul-Martin HolterhusDepartment of Paediatric Oncology and Rheumatology, Paediatric Endocrinology and Diabetes, University Hospital of Schleswig-Holstein, Kiel, Germany.
Nadine C HornigInstitute of Human Genetics, University Hospital of Schleswig-Holstein, Kiel University, Kiel, Germany. nhornig@medgen.uni-kiel.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAndrogen signalling through the androgen receptor (AR) is crucial for male genital development. Disruptions in this pathway are associated with androgen insensitivity syndrome (AIS), which is typically caused by mutations in the AR gene, although the underlying genetic mechanisms remain unknown in many cases. To better understand androgen-dependent transcriptional changes in human genital tissue, we performed transcriptomic profiling of foreskin- and scrotum-derived human genital skin fibroblasts (GSFs) treated with dihydrotestosterone.

resultsDifferential gene expression analysis revealed 409 and 260 reproducibly up-regulated genes in foreskin- and scrotum-derived GSFs, respectively. GSFs from individuals with complete androgen insensitivity syndrome, carrying inactivating mutations in the AR gene, showed no reproducible androgen response. Androgen response element motif scanning confirmed direct AR binding in key up-regulated genes, including AOX1, APOD, FKBP5, and FAM107A. Gene ontology analysis revealed enrichment in pathways related to neuronal, muscle, cardiovascular, and sex development.

conclusionIdentifying new AR target genes broadens the current understanding of androgen signalling and aids in better understanding the aetiology of AIS, and other androgen-related conditions.

Indexed as

AndrogensGene Expression ProfilingTranscriptomeAndrogen-Insensitivity SyndromeDihydrotestosteroneFibroblastsForeskinHumansMaleReceptors, AndrogenScrotumAndrogensDihydrotestosteroneReceptors, AndrogenAndrogen insensitivity syndromeAndrogen receptorTranscriptional regulation

Identifiers

PMID41249932
PMCPMC12621392

What Socratic holds

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LicenceCC BY
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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 Socratic graph.