ArticleScience advances2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 33 papers.
0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed
3.1field-weighted citation impact, top 7% of its field
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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
33 citing papers in PubMed, 49 citations in OpenAlex.
- A novel OTUD5 variant disrupts neural progenitor cell homeostasis: mechanistic insights from HEK293T cell-based analyses.Stem cell research & therapy · 2026Article
- OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.Neurogenetics · 2026Review
- Proteasome activity maintains cell-type-specific gene expression.Cell reports · 2026Article
- Comparative DCMS analysis reveals a novel breed-specific X-linked selection signature in Changthangi sheep.Frontiers in genetics · 2026Article
- Toward precision correction of OTUD5-mediated deubiquitylation defect in LINKED syndrome: a gene-editing paradigm for embryonic chromatin-remodeller disorders.Annals of medicine and surgery (2012) · 2026Article
- Regulation of Neuroinflammation by Microglial DUBA-IRAK1-IKKβ Signaling Loop.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Discovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.Nature chemical biology · 2025Article
- Combinatorial ubiquitin code degrades deubiquitylation-protected substrates.Nature communications · 2025Article
- THBS1 in macrophage-derived exosomes exacerbates cerebral ischemia-reperfusion injury by inducing ferroptosis in endothelial cells.Journal of neuroinflammation · 2025Article
- OTU deubiquitinases in cancer pathogenesis and precision therapy.American journal of cancer research · 2025Review
- Review
- VCP/p97-associated proteins are binders and debranching enzymes of K48-K63-branched ubiquitin chains.Nature structural & molecular biology · 2024Article
- UBR-5 and UBE2D mediate timely exit from stem fate via destabilization of poly(A)-binding protein PABP-2 in cell state transition.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Parallel genome-scale CRISPR-Cas9 screens uncouple human pluripotent stem cell identity versus fitness.Nature communications · 2024Article
- K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors.Life science alliance · 2024Article
- Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.Journal of clinical immunology · 2024Review
- Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 13 institutions in 4 countries.
David B BeckMetabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-5884-6231
Mohammed A BasarStem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-2725-6797
Anthony J AsmarStem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-4843-0785
Joyce J ThompsonUnit on Genome Structure and Regulation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-5612-3614
Hirotsugu OdaMetabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Daniela T UeharaDepartment of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
Ken SaidaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.ORCID 0000-0002-4686-6147
Sander PajusaluDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.ORCID 0000-0002-5435-0781
Inga TalvikDepartment of Neurology and Rehabilitation, Tallinn Children's Hospital, Tallinn, Estonia.
Precilla D'SouzaOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-8468-5822
Joann BodurthaDepartment of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USA.ORCID 0000-0002-1667-5972
Weiyi MuDepartment of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USA.ORCID 0000-0002-4049-6755
Kristin W BarañanoDepartment of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA.
Noriko MiyakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Raymond WangDivision of Metabolic Disorders, CHOC Children's Specialists, Orange, CA 92868, USA.ORCID 0000-0001-6494-7613
Marlies KempersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Tomoko TamadaDepartment of Pediatrics, Hiroshima Prefectural Rehabilitation Center, Hiroshima, Japan.ORCID 0000-0001-7781-7578
Yutaka NishimuraDepartment of General Perinatology, Hiroshima City Hiroshima Citizens Hospital, Hiroshima, Japan.
Satoshi OkadaDepartment of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.ORCID 0000-0002-4622-5657
Tomoki KoshoDepartment of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan.
Ryan DaleBioinformatics and Scientific Programming Core, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Apratim MitraBioinformatics and Scientific Programming Core, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-3279-0054
Ellen MacnamaraUndiagnosed Diseases Program, The Common Fund, Office of the Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-9418-3287
Undiagnosed Diseases Network
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.ORCID 0000-0001-9846-6500
Johji InazawaDepartment of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
Magdalena WalkiewiczNational Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD 20892, USA.
Katrin ÕunapDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.ORCID 0000-0002-4594-6364
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-3931-1207
Ivona AksentijevichMetabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-6564-7214
Daniel L KastnerMetabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0001-7188-4550
Pedro P RochaUnit on Genome Structure and Regulation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-4691-7773
Achim WernerStem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA. achim.werner@nih.gov.ORCID 0000-0003-1051-8447
National Institutes of Health · USJohns Hopkins Hospital · USNational Human Genome Research Institute · USTokyo Medical and Dental University · JPYokohama City University · JPChildren's Hospital of Orange County · USHiroshima City Asa Citizens Hospital · JPHiroshima Prefectural Rehabilitation Center · JPHiroshima University · JPRadboud University Nijmegen · NLShinshu University · JPTallinn Health Care College · EETartu University Hospital · EE
Funding
Genetics, Pathophysiology, and Treatment of Recessive Autoinflammatory DiseasesZIAHG200372 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2025
$27.2MNICHD Bioinformatics and Scientific Programming CoreZICHD008986 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI DALE, RYAN · 2019 to 2025
$17.4MUbiquitin-dependent cell-fate decisions during human development and diseaseZIADE000749 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI WERNER, ACHIM · 2018 to 2025
$14.1MGenome 3D organization as a determinant of cell-fate decisionsZIAHD008975 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI ROCHA, PEDRO · 2018 to 2025
$10.4MPathogenesis informs therapy in the GM1 and GM2 GangliosidosesZIAHG200409 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TIFFT, CYNTHIA · 2020 to 2025
$4.1MAbstract
Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. Information on physiological roles and underlying mechanisms of particular ubiquitin linkages during human development are limited. Here, relying on genomic constraint scores, we identify 10 patients with multiple congenital anomalies caused by hemizygous variants in
Indexed as
GenomicsUbiquitinChromatinHumansSignal TransductionUbiquitinationChromatinUbiquitin
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What OpenQuestion holds
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LicenceCC BY-NC
Read underepoch 390
Registered trials
NCT02450851ClinicalTrials.gov
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.