ArticleNature2019
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Open access · greenAbstract read
In one paragraph
Article in Nature, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
120citing papers in PubMed, 1 pooled it
8.8field-weighted citation impact, top 1% of its field
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
120 citing papers in PubMed, 1 synthesis or guideline pooled it, 171 citations in OpenAlex.
- Alternative splicing and cancer: a systematic review.Signal transduction and targeted therapy · 2021Pooled it
- The expression landscape and clinical significance of cancer-specific RNA transcripts across human cancers.Journal of translational medicine · 2026Article
- Outstanding Questions to Understand and Target Splicing Factor-Mutant Blood Cancers.Blood cancer discovery · 2026Article
- Article
- Review
- Immunotherapy approaches for the treatment of relapsed or progressive medulloblastoma.Journal of neuro-oncology · 2026Review
- An ultraconserved pseudo 5' splice site fine-tunes development by regulating alternative splicing within TOR-related pathways.Nature communications · 2026Article
- Integrated transcriptomic landscape of medulloblastoma and ependymoma reveals novel tumor subtype-specific biology.Neuro-oncology · 2026Article
- Medulloblastoma stem cell programs: Molecular roadmaps of disease progression.Developmental cell · 2026Review
- Alternative splicing in pediatric central nervous system tumors highlights oncofetal candidateNeuro-oncology pediatrics · 2026Article
- Unveiling roles of non-coding RNAs in cancer through advanced technologies.Quantitative biology (Beijing, China) · 2025Article
- The transcription factor LHX2 mediates and enhances oncogenic BMP signaling in medulloblastoma.Cell death and differentiation · 2025Article
- The human branchpoint-interacting stem loop sequence and structure regulates U2 snRNA expression, branchpoint recognition, and transcriptome.bioRxiv : the preprint server for biology · 2025Article
- EZH2 variants derived from cryptic splice sites govern distinct epigenetic patterns during embryonic development.Nucleic acids research · 2025Article
- Article
- Diversity of U1 Small Nuclear RNAs and Diagnostic Methods for Their Mutations.Cancer science · 2025Article
- Integrated transcriptomic landscape of medulloblastoma and ependymoma reveals novel tumor subtype-specific biology.bioRxiv : the preprint server for biology · 2025Article
- Snord67 promotes breast cancer metastasis by guiding U6 modification and modulating the splicing landscape.Nature communications · 2025Article
- Synergistic RAS-MAPK and AKT Activation in MYC-Driven Tumors via Adjacent PVT1 Rearrangements.bioRxiv : the preprint server for biology · 2025Article
- ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.Nature genetics · 2025Article
60 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
68 authors at 20 institutions in 14 countries.
Hiromichi Suzuki *The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Sachin A Kumar *The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Shimin ShuaiInformatics and Biocomputing, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Ander Diaz-NavarroDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología, Universidad de Oviedo, Oviedo, Spain.
Ana Gutierrez-FernandezDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología, Universidad de Oviedo, Oviedo, Spain.
Pasqualino De AntonellisThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Florence M G CavalliThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Kyle JuraschkaThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Hamza FarooqThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ichiyo ShibaharaThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Maria C VladoiuThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jiao ZhangThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Namal AbeysundaraThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
David PrzelickiThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Patryk SkowronThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Nicole GauerThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Betty LuuThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Craig DanielsThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Xiaochong WuThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Antoine ForgetCNRS UMR, INSERM, Institut Curie, PSL Research University, Orsay, France.
Ali MominThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jun WangTumor Initiation and Maintenance Program, NCI-Designated Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Weifan DongThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Seung-Ki KimDepartment of Neurosurgery, Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, South Korea.
Wieslawa A GrajkowskaDepartment of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
Anne JouvetCentre de Pathologie EST, Groupement Hospitalier EST, Université de Lyon, Bron, France.
Michelle Fèvre-MontangeCNRS UMR5292, INSERM U1028, Centre de Recherche en Neurosciences, Université de Lyon, Lyon, France.
Maria Luisa GarrèNeuro-Oncology Unit, Istituto Giannina Gaslini, Genova, Italy.
Amulya A Nageswara RaoDivision of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, MN, USA.
Caterina GianniniDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Johan M KrosDepartment of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Pim J FrenchDepartment of Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Nada JabadoDivision of Experimental Medicine, McGill University, Montreal, Quebec, Canada.
Ho-Keung NgDepartment of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Hong Kong, China.
Wai Sang PoonDepartment of Surgery, The Chinese University of Hong Kong, Hong Kong, China.
Charles G EberhartDepartment of Pathology, John Hopkins University School of Medicine, Baltimore, MD, USA.
Ian F PollackDepartment of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
James M OlsonClinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
William A WeissDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Toshihiro KumabeDepartment of Neurosurgery, Kitasato University School of Medicine, Sagamihara, Japan.
Enrique López-AguilarDivision of Pediatric Hematology/Oncology, Hospital Pediatría Centro Médico Nacional Century XXI, Mexico City, Mexico.
Boleslaw LachDepartment of Pathology and Molecular Medicine, Division of Anatomical Pathology, McMaster University, Hamilton, Ontario, Canada.
Maura MassiminoFondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
Erwin G Van MeirWinship Cancer Institute, Emory University, Atlanta, GA, USA.
Joshua B RubinDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, USA.
Rajeev VibhakarDepartment of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Lola B ChamblessDepartment of Neurological Surgery, Vanderbilt Medical Center, Nashville, TN, USA.
Noriyuki KijimaDepartment of Neurosurgery, Osaka National Hospital, Osaka, Japan.
Almos KleknerDepartment of Neurosurgery, Medical and Health Science Centre, University of Debrecen, Debrecen, Hungary.
László BognárDepartment of Neurosurgery, Medical and Health Science Centre, University of Debrecen, Debrecen, Hungary.
Jennifer A ChanCharbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada.
Claudia C FariaDivision of Neurosurgery, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal.
Jiannis RagoussisMcGill University and Genome Quebec Innovation Centre, Department of Human Genetics, McGill University, Montreal, Canada.
Stefan M PfisterHopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Anna GoldenbergDepartment of Computer Science, University of Toronto, Toronto, Ontario, Canada.
Robert J Wechsler-ReyaTumor Initiation and Maintenance Program, NCI-Designated Cancer Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Swneke D BaileyDepartment of Surgery, Division of Thoracic and Upper Gastrointestinal Surgery, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Livia GarziaCancer Research Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
A Sorana MorrissyCharbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada.
Marco A MarraCanada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Xi HuangThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
David MalkinDivision of Haematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Olivier AyraultCNRS UMR, INSERM, Institut Curie, PSL Research University, Orsay, France.
Vijay RamaswamyDevelopmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
Xose S PuenteDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología, Universidad de Oviedo, Oviedo, Spain.
John A CalarcoDepartment of Cell and Systems Biology, University of Toronto, Toronto, Canada.
Lincoln SteinInformatics and Biocomputing, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Michael D TaylorThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada. mdtaylor@sickkids.ca.
Hospital for Sick Children · CASickKids Foundation · CAMcGill University · CAChinese University of Hong Kong · HKErasmus MC · NLMayo Clinic in Arizona · USNeurological Surgery · USOntario Institute for Cancer Research · CAUniversidad de Oviedo · ESUniversité Claude Bernard Lyon 1 · FRUniversity of Calgary · CAUniversity of Debrecen · HUUniversity of Toronto · CACanada's Michael Smith Genome Sciences Centre · CACentro de Investigación Biomédica en Red de Cáncer · ESCentro Hospitalar Lisboa Norte · PTCentro Medico Nacional Siglo XXI · MXChildren's Memorial Health Institute · PLDeutschen Konsortium für Translationale Krebsforschung · DEEmory University · US
Funding
Mouse models to discover new drivers of medulloblastomaR01CA159859 · NCI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Michael D. Taylor, WILLIAM A WEISS · 2011 to 2026
$10.4MTesting a cancer patient-specific SARS-CoV-2 vaccine in chemotherapy- and radiation-treated pediatric brain tumor mouse modelsR01CA114567 · NCI · SEATTLE CHILDREN'S HOSPITAL · PI OLSON, JAMES M · 2006 to 2023
$4.9MMedulloblastoma and MetastasesR01CA148699 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI TAYLOR, MICHAEL D., WEISS, WILLIAM A · 2010 to 2014
$2.4MEvaluating ADGRB3 as a tumor suppressor epigenetically silenced in WNT medulloblastomaR01CA235162 · NCI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI VAN MEIR, ERWIN G. · 2019 to 2024
$2.3MTargeting Mechanisms of Medulloblastoma FormationR01NS096236 · NINDS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI VAN MEIR, ERWIN G. · 2016 to 2020
$1.9MNCI NIH HHS R01 CA114567NCI NIH HHS R01 CA148699NCI NIH HHS R01 CA159859NCI NIH HHS R01 CA235162NINDS NIH HHS R01 NS096236
Abstract
In cancer, recurrent somatic single-nucleotide variants-which are rare in most paediatric cancers-are confined largely to protein-coding genes
Indexed as
AdolescentAdultAlternative SplicingCerebellar NeoplasmsHedgehog ProteinsHumansMedulloblastomaMutationRNA, Small NuclearRNA Splice SitesRNA SplicingHedgehog ProteinsRNA, Small NuclearRNA Splice SitesU1 small nuclear RNA
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