ArticleJournal of medical genetics2021
Biallelic variants in
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 30 citations in OpenAlex.
- ADAR-mediated RNA editing in CNS disorders: from pathogenic mechanisms to therapeutic opportunities.Cellular & molecular biology letters · 2026Review
- Knockdown of RNA editing proteins reshapes the HepaRG transcriptome and pharmacogene expression.Scientific reports · 2026Article
- TSniffer: unbiased de novo identification of RNA editing sites and quantification of editing activity in RNA-seq data.Genome biology · 2026Article
- Metabolic functions for molecular chaperones and stress proteins in microcephaly.Cellular and molecular life sciences : CMLS · 2025Review
- A Pleiotropic and Functionally DivergentCells · 2025Article
- Novel ADAR2 variants in children with seizures, intellectual disability, and motor delay have reduced RNA editing.RNA (New York, N.Y.) · 2025Article
- Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease.Nature reviews. Genetics · 2025Review
- Emerging clinical applications of ADAR based RNA editing.Stem cells translational medicine · 2025Review
- The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy.Acta epileptologica · 2025Review
- FLI1 is associated with regulation of DNA methylation and megakaryocytic differentiation in FPDMM caused by a RUNX1 transactivation domain mutation.Scientific reports · 2024Article
- Shared genetic basis informs the roles of polyunsaturated fatty acids in brain disorders.medRxiv : the preprint server for health sciences · 2023Article
- ADAR1 Zα domain P195A mutation activates the MDA5-dependent RNA-sensing signaling pathway in brain without decreasing overall RNA editing.Cell reports · 2023Article
- Review
- ADAR2 enzymes: efficient site-specific RNA editors with gene therapy aspirations.RNA (New York, N.Y.) · 2022Review
- RNA editing of ion channels and receptors in physiology and neurological disorders.Oxford open neuroscience · 2022Review
- The RNA editing enzyme ADAR2 restricts L1 mobility.RNA biology · 2021Article
- RNA Editing: A New Therapeutic Target in Amyotrophic Lateral Sclerosis and Other Neurological Diseases.International journal of molecular sciences · 2021Review
- Review
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 6 countries.
Funding
Abstract
backgroundAdenosine-to-inosine RNA editing is a co-transcriptional/post-transcriptional modification of double-stranded RNA, catalysed by one of two active adenosine deaminases acting on RNA (ADARs), ADAR1 and ADAR2.
methodsWe studied three children from two consanguineous families with severe developmental and epileptic encephalopathy (DEE) through detailed physical and instrumental examinations. Exome sequencing (ES) was used to identify
resultsAll patients showed global developmental delay, intractable early infantile-onset seizures, microcephaly, severe-to-profound intellectual disability, axial hypotonia and progressive appendicular spasticity. ES revealed the novel missense c.1889G>A, p.(Arg630Gln) and deletion c.1245_1247+1 del, p.(Leu415PhefsTer14) variants in
conclusionIn conclusion, these data support the pathogenic role of biallelic
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.