ArticleFrontiers in cardiovascular medicine2022
Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension.
Article in Frontiers in cardiovascular medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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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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.
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants.Disease models & mechanisms · 2026Article
- A causal association between serum mitochondrial-related proteins and the risk of chronic kidney disease.International urology and nephrology · 2025Article
- Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.Diabetic medicine : a journal of the British Diabetic Association · 2025Article
- What can we learn from pathophysiology and therapeutic targetable pathways from all genetic causes and associations in PH?International journal of cardiology. Congenital heart disease · 2024Review
- Protein-Protein Interactions of Seryl-tRNA Synthetases with Emphasis on Human Counterparts and Their Connection to Health and Disease.Life (Basel, Switzerland) · 2024Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hyperuricemia, pulmonary hypertension, and renal failure in infancy and alkalosis syndrome (HUPRA syndrome) is an ultrarare mitochondrial disease that is characterized by hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. Seryl-tRNA synthetase 2 (
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Registered trials
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