Evidence map›Paper›PMID 40831036›Full record

ArticleThe journal of gene medicine2025

Single-Cell RNA Sequencing of Peripheral Blood Mononuclear Cells in Patients With Single Ventricle/Hypoplastic Left Heart Syndrome.

Hui-Qi Qu, Kayleigh Ostberg, Diana J Slater, Fengxiang Wang, James Snyder, Cuiping Hou, John J Connolly, Michael March, Joseph T Glessner, Charlly Kao and 1 more

Abstract read
In one paragraph

Article in The journal of gene medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

3 citing papers in PubMed.

  1. Article
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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

11 authors.

Hui-Qi QuThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-9317-4488
Kayleigh OstbergThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Diana J SlaterThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Fengxiang WangThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
James SnyderThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Cuiping HouThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
John J ConnollyThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Michael MarchThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Joseph T GlessnerThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Charlly KaoThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Funding

Children's Hospital of Philadelphia
6 · The paper itself

Abstract

backgroundSingle ventricle and hypoplastic left heart syndrome (SV/HLHS) has detrimental effects on multiple organ systems, including peripheral blood mononuclear cells (PBMCs), and can weaken the immune system, exacerbating the risk of infection and various cardiovascular complications.

methodsUsing single-cell RNA sequencing (scRNA-seq), we studied PBMCs from 33 pediatric patients (10 females and 23 males) with SV/HLHS. By a pair-wide study design, the SV/HLHS patients were compared to 33 controls without heart disease.

resultsFour cell types account for the top 62% cumulative importance of disease effects on gene expression in different cell types, that is, Th1/17 cells, TFH cells, NK cells, and Th2 cells. Significant sex differences were observed in TFH Cells, with less prominent effects in females. A total of 6659 genes in different cell types were significantly differentially expressed (DE). Hierarchical clustering by WGCNA analysis of the DE genes revealed that DE genes in NK cells are most closely related to those in SV/HLHS. A total of 822 genes showed cell-specific DE with opposite directions in different cell types, highlighting overrepresented MYC and IFN-γ activity in T cell and NK cell populations, as well as underrepresentation in monocytes and Treg cells.

conclusionThis study elucidates the complex transcriptome landscape in PBMCs in patients with SV/HLHS, emphasizing the differential impacts on various cell types. New insights are gained into the precise modulation of MYC and IFN-γ activity in SV/HLHS, which may help balance immune responses and reduce harmful inflammation, and promote effective tissue repair and infection control.

Indexed as

Heart VentriclesHypoplastic Left Heart SyndromeLeukocytes, MononuclearSingle-Cell AnalysisChildChild, PreschoolFemaleGene Expression ProfilingHumansInfantKiller Cells, NaturalMaleSequence Analysis, RNATranscriptomemonocytesNK cellsperipheral blood mononuclear cellssingle‐cell RNA sequencingTreg cells

Identifiers

PMID40831036
PMCPMC12365367

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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.