ArticleProceedings of the National Academy of Sciences of the United States of America2018
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27citing papers in PubMed
1.3field-weighted citation impact, top 20% of its field
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Who cites it
27 citing papers in PubMed, 45 citations in OpenAlex.
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- ERCC6L2 mitigates replication stress and promotes centromere stability.Cell reports · 2023Article
- ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.Annals of hematology · 2023Review
- Multi-omics Investigation of Freeze Tolerance in the Amur Sleeper, an Aquatic Ectothermic Vertebrate.Molecular biology and evolution · 2023Article
- Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.Frontiers in oncology · 2023Review
- Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.British journal of haematology · 2022Article
- PICH acts as a force-dependent nucleosome remodeler.Nature communications · 2022Article
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Corrections and comments
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Authors and funding
23 authors at 8 institutions in 4 countries.
Hemanth TummalaGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom; h.tummala@qmul.ac.uk.
Arran D DokalBarts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
Amanda WalneGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Alicia EllisonGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Shirleny CardosoGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Saranha AmirthasigamanipillaiGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Michael KirwanGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Isobel BrowneGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Jasmin K SidhuGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Vinothini RajeeveBarts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
Ana Rio-MachinBarts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
Ahad Al SeraihiBarts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
Andrew S DuncombeDepartment of Haematology, University Hospital Southampton, SO16 6YD Southampton, United Kingdom.
Matthew JennerDepartment of Haematology, University Hospital Southampton, SO16 6YD Southampton, United Kingdom.
Owen P SmithOur Lady's Children's Hospital, Trinity College Dublin, Crumlin, Dublin 12, Ireland.
Helen EnrightAdelaide and Meath Hospital, Trinity College Medical School, Dublin 24, Ireland.
Alice NortonDepartment of Clinical and Laboratory Haematology, Birmingham Children's Hospital, B4 6NH Birmingham, United Kingdom.
Tekin AksuPediatric Hematology and Oncology, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, University of Health Sciences, Ankara 06100, Turkey.
Namık Yaşar ÖzbekPediatric Hematology and Oncology, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, University of Health Sciences, Ankara 06100, Turkey.
Nikolas PontikosUCL Institute of Ophthalmology, University College London, EC1V 9EL London, United Kingdom.
Pedro CutillasBarts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
Inderjeet DokalGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Tom VulliamyGenomics and Child Health, Blizard Institute, Queen Mary University of London, E1 2AT London, United Kingdom.
Queen Mary University of London · GBUniversity Hospital Southampton NHS Foundation Trust · GBBirmingham Children's Hospital · GBMinistry of Health · TROur Lady's Hospital · IESağlık Bilimleri Üniversitesi · TRTallaght University Hospital · IEUniversity College London · GB
Funding
Medical Research Council MR/P018440Medical Research Council MR/P018440/1
Abstract
Biallelic variants in the ERCC excision repair 6 like 2 gene (
Indexed as
AllelesDNA RepairGenomic InstabilityTranscription, GeneticA549 CellsBone Marrow DiseasesDNA-Activated Protein KinaseDNA HelicasesFemaleGenetic Diseases, InbornHeLa CellsHumansMaleRNA Polymerase IISyndromeDNA-Activated Protein KinaseDNA HelicasesERCC6L2 protein, humanRNA Polymerase IIDNA-PKDNA repairERCC6L2R loopstranscription
Identifiers
What OpenQuestion holds
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LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
None linked
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.