ReviewJournal of human genetics2021
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.
Review in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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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.
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- CSF1R-related leukoencephalopathy: experimental models and potential for treatment.Disease models & mechanisms · 2026Review
- Depletion and replacement of tissue-resident macrophages in mice with germ-line deletion of a conserved enhancer in the Csf1r locus.Development (Cambridge, England) · 2026Article
- CSF1R T567M mutation induces microglial dysfunction and synaptic impairment in patient iPSC-derived cerebral organoids of CSF1R-related disorder.Cell death discovery · 2026Article
- Macrophages Mediate Mesoscale Brain Mechanical Homeostasis.Advanced materials (Deerfield Beach, Fla.) · 2026Article
- Mutations in the human CSF1R gene impact microglia's maintenance of brain white matter integrity.Nature immunology · 2025Article
- Review
- Microglia as hunters or gatherers of brain synapses.Nature neuroscience · 2025Review
- Microglia in Health and Diseases: Integrative Hubs of the Central Nervous System (CNS).Cold Spring Harbor perspectives in biology · 2024Review
- Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.CNS neuroscience & therapeutics · 2024Article
- An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.Molecular neurodegeneration · 2024Article
- Macrophage mediated mesoscale brain mechanical homeostasis mechanically imaged via optical tweezers and Brillouin microscopybioRxiv : the preprint server for biology · 2024Article
- Allogenic microglia replacement: A novel therapeutic strategy for neurological disorders.Fundamental research · 2024Review
- Clinical, genetic, and molecular characteristics in a central-southern Chinese cohort of genetic leukodystrophies.Annals of clinical and translational neurology · 2023Article
- CSF1R as a Therapeutic Target in Bone Diseases: Obvious but Not so Simple.Current osteoporosis reports · 2022Review
- Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.JBMR plus · 2022Article
- A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.Development (Cambridge, England) · 2022Article
- Reply to: Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?Annals of clinical and translational neurology · 2022Article
- Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?Annals of clinical and translational neurology · 2022Article
- Two Novel Intronic Mutations in theFrontiers in cell and developmental biology · 2022Article
- Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.Frontiers in aging neuroscience · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Colony-stimulating factor 1 receptor (CSF1R) plays key roles in the development and function of the cells in the monocyte/macrophage lineage, including microglia and osteoclasts. It is well known that mono-allelic mutations of CSF1R cause hereditary diffuse leukoencephalopathy with spheroids (HDLS, OMIM # 221820), an adult-onset progressive neurodegenerative disorder. Recently, a more severe phenotypic spectrum has been identified in individuals with bi-allelic mutations of CSF1R. In addition to leukoencephalopathy of earlier onset than HDLS, the new disease shows brain malformations and skeletal dysplasia compatible with dysosteosclerosis (DOS), thus named "brain abnormalities, neurodegeneration, and dysosteosclerosis" (BANDDOS, OMIM # 618476). In addition, some individuals with bi-allelic missense mutations of CSF1R have been found to present with incomplete BANDDOS where skeletal dysplasia is absent. In this review, we summarize the monogenic disorders caused by mutations in CSF1R and their mutational spectra, and propose a dose-dependent model to explain the complex genotype-phenotype association.
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Registered trials
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.