ArticleHuman molecular genetics2017
Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.
Article in Human molecular genetics, 2017. 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.
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.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Mouse variants in Taf1c result in reduced survival to birth.Developmental biology · 2025Article
- Understanding inherited cardiomyopathies: clinical aspects and genetic determinants.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.European journal of medical genetics · 2024Article
- Gene-based association tests in family samples using GWAS summary statistics.Genetic epidemiology · 2024Article
- Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants inEuropean heart journal. Case reports · 2023Article
- Developmental programming: adverse sexually dimorphic transcriptional programming of gestational testosterone excess in cardiac left ventricle of fetal sheep.Scientific reports · 2023Article
- HMG-boxes, ribosomopathies and neurodegenerative disease.Frontiers in genetics · 2023Review
- Nascent polypeptide-Associated Complex and Signal Recognition Particle have cardiac-specific roles in heart development and remodeling.PLoS genetics · 2022Article
- Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome.PLoS genetics · 2022Article
- TAF1A and ZBTB41 serve as novel key genes in cervical cancer identified by integrated approaches.Cancer gene therapy · 2021Article
- Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.Human genetics · 2020Article
- Ribosomopathies: Old Concepts, New Controversies.Trends in genetics : TIG · 2019Review
- Identification and Functional Characterization of an ISL1 Mutation Predisposing to Dilated Cardiomyopathy.Journal of cardiovascular translational research · 2019Article
- ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy.Heart and vessels · 2018Article
- Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.Journal of cardiovascular development and disease · 2017Article
- Identification of biomarkers, pathways, and potential therapeutic targets for heart failure using next-generation sequencing data and bioinformatics analysis.Therapeutic advances in cardiovascular diseaseArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Non-ischemic dilated cardiomyopathy (DCM) has been recognized as a heritable disorder for over 25 years, yet clinical genetic testing is non-diagnostic in >50% of patients, underscoring the ongoing need for DCM gene discovery. Here, whole exome sequencing uncovered a novel molecular basis for idiopathic end-stage heart failure in two sisters who underwent cardiac transplantation at three years of age. Compound heterozygous recessive mutations in TAF1A, encoding an RNA polymerase I complex protein, were associated with marked fibrosis of explanted hearts and gene-specific nucleolar segregation defects in cardiomyocytes, indicative of impaired ribosomal RNA synthesis. Knockout of the homologous gene in zebrafish recapitulated a heart failure phenotype with pericardial edema, decreased ventricular systolic function, and embryonic mortality. These findings expand the clinical spectrum of ribosomopathies to include pediatric DCM.
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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.