ReviewPediatric pulmonology2021
Genes that drive the pathobiology of pediatric pulmonary arterial hypertension.
Review in Pediatric pulmonology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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.
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension.Pediatric pulmonology · 2026Article
- Excessive postnatal smooth muscle differentiation in a lung-specific model of TBX4-related pulmonary hypertension.JCI insight · 2026Article
- Global Burden of Pediatric Pulmonary Arterial Hypertension, 1990-2021: A Systematic Analysis from the Global Burden of Disease Study 2021.Pediatric cardiology · 2026Article
- Experimental pulmonary arterial hypertension in mice with a pathogenic SOX17 variant.Scientific reports · 2026Article
- Advances in the pathogenesis and clinical management of pulmonary hypertension.Medical review (2021) · 2026Review
- Refractory Peripheral Pulmonary Stenosis and Severe Pulmonary Arterial Hypertension Associated With aPulmonary circulation · 2026Article
- Why some and not others? Understanding vascular phenotypes in genetic developmental lung diseases.Current opinion in pediatrics · 2025Review
- Review
- Precision Medicine for Pulmonary Vascular Disease: The Future Is Now (2023 Grover Conference Series).Pulmonary circulation · 2025Article
- Pulmonary Hypertension in Children.Clinics in chest medicine · 2024Review
- Pulmonary arterial hypertension associated with congenital heart disease: An omics study.Frontiers in cardiovascular medicine · 2023Review
- Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension.Journal of clinical medicine · 2022Article
- Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.International journal of molecular sciences · 2022Article
- Progress in Pulmonary Vein Stenosis: Lessons from Success in Treating Pulmonary Arterial Hypertension.Children (Basel, Switzerland) · 2022Article
- Interstitial lung disease in infancy and early childhood: a clinicopathological primer.European respiratory review : an official journal of the European Respiratory Society · 2022Review
- Genes in pediatric pulmonary arterial hypertension and the most promisingFrontiers in genetics · 2022Review
- Pediatric Pulmonary Hypertension: Definitions, Mechanisms, Diagnosis, and Treatment.Comprehensive Physiology · 2021Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Emerging data from studies of pediatric-onset pulmonary arterial hypertension (PAH) indicate that the genomics of pediatric PAH is different than that of adults. There is a greater genetic burden in children, with rare genetic factors contributing to at least 35% of pediatric-onset idiopathic PAH (IPAH) compared with ~11% of adult-onset IPAH. De novo variants are the most frequent genetic cause of PAH in children, likely contributing to ~15% of all cases. Rare deleterious variants in bone morphogenetic protein receptor 2 (BMPR2) contribute to pediatric-onset familial PAH and IPAH with similar frequency as adult-onset. While likely gene-disrupting (LGD) variants in BMPR2 contribute across the lifespan, damaging missense variants are more frequent in early-onset PAH. Rare deleterious variants in T-box 4-containing protein (TBX4) are more common in pediatric-compared with adult-onset PAH, explaining ~8% of pediatric IPAH. PAH associated with congenital heart disease (APAH-CHD) and other developmental disorders account for a large proportion of pediatric PAH. SRY-related HMG box transcription factor (SOX17) was recently identified as an APAH-CHD risk gene, contributing less frequently to IPAH, with a greater prevalence of rare deleterious variants in children compared with adults. The differences in genetic burden and genes underlying pediatric- vs adult-onset PAH indicate that genetic information relevant to pediatric PAH cannot be extrapolated from adult studies. Large cohorts of pediatric-onset PAH are necessary to identify the unique etiological differences of PAH in children, as well as the natural history and response to therapy.
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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.