ArticleActa neuropathologica2020
Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
Abstract read
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Article in Acta neuropathologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
–field-weighted citation impact
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
18 citing papers in PubMed.
- Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2026Review
- Basic Microglial Functions and How They Go Awry in Neurodegenerative Disease.Annual review of pathology · 2026Review
- Drivers and shapers of macrophages specification in the developing brain.Current opinion in immunology · 2025Review
- Neurodegeneration, Intracranial Calcifications, Microcephaly and Drug-Resistant Epilepsy Caused by a Novel Homozygous Missense Variant in theInternational medical case reports journal · 2025Article
- Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.The Journal of experimental medicine · 2024Article
- TGF-β Signaling in Microglia: A Key Regulator of Development, Homeostasis and Reactivity.Biomedicines · 2024Review
- Inhibiting CSF1R alleviates cerebrovascular white matter disease and cognitive impairment.Glia · 2024Article
- Microglia and Brain Disorders: The Role of Vitamin D and Its Receptor.International journal of molecular sciences · 2023Review
- The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.Brain : a journal of neurology · 2023Article
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
- Mechanisms of myeloid cell entry to the healthy and diseased central nervous system.Nature immunology · 2023Review
- Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.International journal of molecular sciences · 2022Review
- Specificity of TGF-β1 signal designated by LRRC33 and integrin αNature communications · 2022Article
- Loss of LRRC33-Dependent TGFβ1 Activation Enhances Antitumor Immunity and Checkpoint Blockade Therapy.Cancer immunology research · 2022Article
- Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.Neurogenetics · 2022Article
- The multicellular interplay of microglia in health and disease: lessons from leukodystrophy.Disease models & mechanisms · 2021Review
- Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.The Journal of investigative dermatology · 2021Review
- The Immune System's Role in the Consequences of Mild Traumatic Brain Injury (Concussion).Frontiers in immunology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors.
Colin SmithAcademic Department of Neuropathology, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Barry W McCollCentre for Discovery Brain Sciences, UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK.
Anirudh PatirThe Roslin Institute, University of Edinburgh, Edinburgh, UK.
Jack BarringtonAcademic Department of Neuropathology, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Jeremy ArmishawDepartment of Paediatrics, Bay of Plenty District Health Board, Tauranga Hospital, Tauranga, New Zealand.
Antonia ClarkePaediatric Neurology Department, St Georges Healthcare NHS Trust, London, UK.
Jenny EatonGenetic Health Service New Zealand, Auckland District Health Board, Auckland City Hospital, Auckland, New Zealand.
Vivienne HobbsDepartment of Paediatrics, Bay of Plenty District Health Board, Tauranga Hospital, Tauranga, New Zealand.
Sahar MansourDepartment of Clinical Genetics, SW Thames Regional Genetics Service, St George's Hospital, University of London, London, UK.
Melinda NolanDepartment of Paediatric Neurology, Starship Children's Health, Auckland, New Zealand.
Gillian I RiceDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Mathieu P RoderoLaboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.
Luis SeabraLaboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.
Carolina UggentiCentre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
John H LivingstonDepartment of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.
Leslie R BridgesDepartment of Cellular Pathology, St George's University Hospitals NHS Foundation Trust, London, UK.
Iona J M JeffreyDepartment of Cellular Pathology, St George's University Hospitals NHS Foundation Trust, London, UK.
Yanick J CrowLaboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France. yanickcrow@mac.com.ORCID 0000-0001-7211-7564
Funding
Medical Research Council MR/L003384/1Medical Research Council MR/L016400/1Medical Research Council MR/R001316/1Wellcome Trust
Abstract
PubMed holds no abstract for this paper.
Indexed as
Age of OnsetAllelesAnimalsBrainFemaleHumansLatent TGF-beta Binding ProteinsMaleMice, KnockoutMutationPedigreeLatent TGF-beta Binding ProteinsNRROS protein, humanNRROS protein, mouse
Identifiers
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LicenceCC BY
Read underepoch 390
Registered trials
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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.