ReviewPediatric research2019
Gene ontology enrichment analysis of congenital diaphragmatic hernia-associated genes.
Review in Pediatric research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.
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.
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.
Who cites it
34 citing papers in PubMed, 60 citations in OpenAlex.
- A macrophage co-expression signature enables robust prognostic prediction in glioblastoma.Translational oncology · 2026Article
- Mechanical compression causes lung hypoplasia in congenital diaphragmatic hernia with GATA4 genetic variants.American journal of physiology. Lung cellular and molecular physiology · 2026Article
- The impact of Iso-mukaadial acetate on Plasmodium falciparum transcriptional gene regulation.Scientific reports · 2025Article
- Review
- Epithelial Dysfunction in Congenital Diaphragmatic Hernia: Mechanisms, Models and Emerging Therapies.Cells · 2025Review
- Mesenchymal retinoic acid signaling is required for normal diaphragm development in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Comprehensive bioinformatics analysis identifies hub genes associated with immune cell infiltration in early-onset schizophrenia.BMC psychiatry · 2025Article
- Inference of Gene Regulatory Networks for Breast Cancer Based on Genetic Modules.BME frontiers · 2025Article
- Impact of ERAP1 downregulation on the pathogenesis of DSS-induced colitis and therapeutic response to sulfasalazine.Frontiers in immunology · 2025Article
- Subclinical ketosis in postpartum dairy cows alters the adipose tissue immunological profile in a depot-specific manner.Frontiers in immunology · 2025Article
- METASPACE-ML: Context-specific metabolite annotation for imaging mass spectrometry using machine learning.Nature communications · 2024Article
- Toll-like receptors ligand immunomodulators for the treatment congenital diaphragmatic hernia.Orphanet journal of rare diseases · 2024Article
- Determination of key hub genes in Leishmaniasis as potential factors in diagnosis and treatment based on a bioinformatics study.Scientific reports · 2024Article
- Identification of Biomarkers Associated With Paget's Disease of Bone and Bone Metastasis From Breast Cancer Patients.Cancer reports (Hoboken, N.J.) · 2024Article
- Multi-omics reveals new links between Fructosamine-3-Kinase (FN3K) and core metabolic pathways.NPJ systems biology and applications · 2024Article
- The etiology of congenital diaphragmatic hernia: the retinoid hypothesis 20 years later.Pediatric research · 2024Review
- Successful early diagnosis and surgical treatment of congenital caval foramen hernia in an 8-month-old mixed breed cat.Brazilian journal of veterinary medicine · 2023Article
- Integrated bioinformatic analyses investigate macrophage-M1-related biomarkers and tuberculosis therapeutic drugs.Frontiers in genetics · 2023Article
- Prediction and Verification of Potential Therapeutic Targets for Non-Responders to Infliximab in Ulcerative Colitis.Journal of inflammation research · 2023Article
- Crossing birth and mortality data as a clue for prevalence of congenital diaphragmatic hernia in Sao Paulo State: A cross sectional study.Lancet regional health. Americas · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital diaphragmatic hernia (CDH) is a commonly occurring major congenital anomaly with a profound impact on neonatal mortality. The etiology of CDH is poorly understood and is complicated by multiple clinical presentations, reflecting the location and type of diaphragm defect. With the increased power of genetic screening, more genes are being associated with CDH, creating a knowledge gap between CDH-associated genes and their contribution to diaphragm embryogenesis. Our goal was to investigate CDH-associated genes and identify common pathways that may lead to abnormal diaphragm development. A comprehensive list of CDH-associated genes was identified from the literature and categorized according to multiple factors, including type of CDH. We undertook a large-scale gene function analysis using gene ontology to identify significantly enriched biological pathways and molecular functions associated with our gene set. We identified 218 CDH-associated genes. Our gene ontology analysis showed that genes representing distinct biological pathways are significantly enriched in relation to different clinical presentations of CDH. This includes retinoic acid signaling in Bochdalek CDH, myogenesis in diaphragm eventration, and angiogenesis in central tendon defects. We have identified unique genotype-phenotype relationships highlighting the major genetic drivers of the different types of CDH.
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Registered trials
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.