ArticleMammalian genome : official journal of the International Mammalian Genome Society2012
Nprl3 is required for normal development of the cardiovascular system.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled 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.
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
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Integrative functional analysis of super enhancer SNPs for coronary artery disease.Journal of human genetics · 2018Pooled it
- Genetic determinants of haemolysis in sickle cell anaemia.British journal of haematology · 2013Trial
- Snrnp25 is a candidate for the peri-implantation lethal phenotype of the Hba deletions.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Ancient genomic linkage of α-globin and Nprl3 couples metabolism with erythropoiesis.Nature communications · 2025Article
- Multiplexed spatial mapping of chromatin features, transcriptome and proteins in tissues.Nature methods · 2025Article
- The α-globin super-enhancer acts in an orientation-dependent manner.Nature communications · 2025Article
- Multiplexed spatial mapping of chromatin features, transcriptome, and proteins in tissues.bioRxiv : the preprint server for biology · 2024Article
- Ancient genomic linkage couples metabolism with erythroid development.bioRxiv : the preprint server for biology · 2023Article
- Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.Science China. Life sciences · 2023Article
- A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.Journal of applied genetics · 2023Review
- Multi-ancestry fine-mapping improves precision to identify causal genes in transcriptome-wide association studies.American journal of human genetics · 2022Article
- Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.Human molecular genetics · 2022Article
- circRNA Expression Pattern and circRNA-miRNA-mRNA Network in HCs, HSCs, and KCs of Murine Liver AfterFrontiers in veterinary science · 2022Article
- SEA and GATOR 10 Years Later.Cells · 2021Review
- RBM20-Related Cardiomyopathy: Current Understanding and Future Options.Journal of clinical medicine · 2021Review
- Reactivation of a developmentally silenced embryonic globin gene.Nature communications · 2021Article
- Epilepsy in the mTORopathies: opportunities for precision medicine.Brain communications · 2021Review
- New Insights in RBM20 Cardiomyopathy.Current heart failure reports · 2020Review
- Article
- Mechanistic Target of Rapamycin Pathway in Epileptic Disorders.Journal of Korean Neurosurgical Society · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
C16orf35 is a conserved and widely expressed gene lying adjacent to the human α-globin cluster in all vertebrate species. In-depth sequence analysis shows that C16orf35 (now called NPRL3) is an orthologue of the yeast gene Npr3 (nitrogen permease regulator 3) and, furthermore, is a paralogue of its protein partner Npr2. The yeast Npr2/3 dimeric protein complex senses amino acid starvation and appropriately adjusts cell metabolism via the TOR pathway. Here we have analysed a mouse model in which expression of Nprl3 has been abolished using homologous recombination. The predominant effect on RNA expression appears to involve genes that regulate protein synthesis and cell cycle, consistent with perturbation of the mTOR pathway. Embryos homozygous for this mutation die towards the end of gestation with a range of cardiovascular defects, including outflow tract abnormalities and ventriculoseptal defects consistent with previous observations, showing that perturbation of the mTOR pathway may affect development of the myocardium. NPRL3 is a candidate gene for harbouring mutations in individuals with developmental abnormalities of the cardiovascular system.
Indexed as
Identifiers
What OpenQuestion holds
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.