ArticleRNA (New York, N.Y.)2019
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
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Article in RNA (New York, N.Y.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
What it found
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Who cites it
27 citing papers in PubMed, 38 citations in OpenAlex.
- Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.medRxiv : the preprint server for health sciences · 2026Article
- The minor spliceosome component U4atac regulates JAK/STAT signaling to modulate hematopoiesis and immune responses in Drosophila melanogaster.Nature communications · 2026Article
- RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.HGG advances · 2026Article
- Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Orphanet journal of rare diseases · 2026Article
- Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.Nature genetics · 2025Article
- Connecting genotype and phenotype in minor spliceosome diseases.RNA (New York, N.Y.) · 2025Review
- Taxonomy of introns and the evolution of minor introns.Nucleic acids research · 2024Article
- Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA elements required for mutually exclusive splicing by the U2- and U12-type spliceosome.Nucleic acids research · 2024Article
- RIP-PEN-seq identifies a class of kink-turn RNAs as splicing regulators.Nature biotechnology · 2024Article
- Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.Nucleic acids research · 2023Article
- The emerging significance of splicing in vertebrate development.Development (Cambridge, England) · 2022Review
- Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components.RNA (New York, N.Y.) · 2022Article
- ZRSR1 co-operates with ZRSR2 in regulating splicing of U12-type introns in murine hematopoietic cells.Haematologica · 2022Article
- Splicing machinery is impaired in rheumatoid arthritis, associated with disease activity and modulated by anti-TNF therapy.Annals of the rheumatic diseases · 2022Article
- Chromosomal instability by mutations in the novel minor spliceosome component CENATAC.The EMBO journal · 2021Article
- Therapeutic Modulation of RNA Splicing in Malignant and Non-Malignant Disease.Trends in molecular medicine · 2021Review
- Minor Intron Splicing from Basic Science to Disease.International journal of molecular sciences · 2021Review
- Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.Nucleic acids research · 2021Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 4 countries.
Audric CologneINRIA Erable, CNRS LBBE UMR 5558, University Lyon 1, University of Lyon, F-69622 Villeurbanne, France.ORCID 0000-0003-3623-8750
Clara Benoit-PilvenINRIA Erable, CNRS LBBE UMR 5558, University Lyon 1, University of Lyon, F-69622 Villeurbanne, France.ORCID 0000-0003-4717-8183
Alicia Besson"Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.
Audrey Putoux"Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.
Amandine Campan-FournierINRIA Erable, CNRS LBBE UMR 5558, University Lyon 1, University of Lyon, F-69622 Villeurbanne, France.
Michael B BoberDivision of Medical Genetics, Nemours/Alfred I. du Pont Hospital for Children, Wilmington, Delaware 19803, USA.ORCID 0000-0002-6178-1264
Christine E M De Die-SmuldersDepartment of Clinical Genetics, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands.ORCID 0000-0003-3485-6870
Aimee D C PaulussenDepartment of Clinical Genetics, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands.ORCID 0000-0002-1661-7625
Lucile PinsonGenetic Department for Rare Diseases and Personalized Medicine, Clinical Division, CHU Montpellier, F-34000 Montpellier, France.
Annick ToutainDepartment of Genetics, Tours University Hospital, F-37000 Tours, France.ORCID 0000-0002-5999-5300
Chaim M RoifmanDepartment of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.ORCID 0000-0002-7519-4116
Anne-Louise Leutenegger *Université de Paris, NeuroDiderot, Inserm, F-75010 Paris, France.ORCID 0000-0002-1302-4357
Sylvie Mazoyer *"Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.ORCID 0000-0002-2135-0160
Patrick Edery *"Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.ORCID 0000-0001-8976-5832
Vincent Lacroix *INRIA Erable, CNRS LBBE UMR 5558, University Lyon 1, University of Lyon, F-69622 Villeurbanne, France.ORCID 0000-0002-4235-8524
Université Claude Bernard Lyon 1 · FRUniversity Medical Center · USAlfred I. duPont Hospital for Children · USCentre Hospitalier Universitaire de Montpellier · FRInserm · FRUniversité de Tours · FRUniversity of Toronto · CA
Funding
No grant is acknowledged in the PubMed record.
Abstract
Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations in
Indexed as
AdultAgedBase SequenceChild, PreschoolConsensus SequenceDwarfismFemaleFetal Growth RetardationGene Expression ProfilingHumansInfantIntronsMaleMicrocephalyMiddle AgedOsteochondrodysplasiasRNARNA, MessengerRNA, Small Nuclearintron retentionminor splicingMOPD1RNA sequencingRNU4ATACU12-type introns
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LicenceCC BY-NC
Read underepoch 390
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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.