ArticleAnnals of neurology2014
Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1.
Article in Annals of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 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
88 citing papers in PubMed, 145 citations in OpenAlex.
- Gut microbiome alterations are sex-dependently associated with brain abnormalities in a mouse model of Neurofibromatosis type I.Molecular psychiatry · 2026Article
- Sleep Health and Quality of Life in Children and Adolescents with NF1: A Biopsychosocial Perspective.Cancers · 2026Article
- Café-au-lait macules in a cohort of Greek children genetically diagnosed with neurofibromatosis type 1: Prognostic significance beyond their diagnostic relevance.Dermatology online journal · 2026Article
- Pediatric Optic Pathway Gliomas: Diagnosis, Management, and Outcomes.International ophthalmology clinics · 2026Review
- Clinical application of diffusion tensor tractography in classification of pediatric optic chiasmatic gliomas: a retrospective cohort study.Frontiers in pediatrics · 2026Article
- Systemic skewing of peripheral blood leukocyte composition in neurofibromatosis type 1.Frontiers in immunology · 2026Article
- Comparison of rule- and large language model-based phenotype extraction from clinical notes for neurofibromatosis type 1.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1).Acta neuropathologica communications · 2025Review
- Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1.JID innovations : skin science from molecules to population health · 2025Review
- Intestinal Bacteroides drives glioma progression by regulating CD8+ T cell tumor infiltration.Neuro-oncology · 2025Article
- Distinct early development trajectories in Nf1Journal of neurodevelopmental disorders · 2025Article
- Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.Progress in retinal and eye research · 2025Review
- Precision preclinical modeling to advance cancer treatment.Journal of the National Cancer Institute · 2025Review
- The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.Healthcare (Basel, Switzerland) · 2025Article
- Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.Journal of neurodevelopmental disorders · 2024Review
- NF1 mutation-driven neuronal hyperexcitability sets a threshold for tumorigenesis and therapeutic targeting of murine optic glioma.Neuro-oncology · 2024Article
- An Overview of Optic Pathway Glioma With Neurofibromatosis Type 1: Pathogenesis, Risk Factors, and Therapeutic Strategies.Investigative ophthalmology & visual science · 2024Review
- NF1Clinical and translational science · 2024Article
- Estrogen-induced glial IL-1β mediates extrinsic retinal ganglion cell vulnerability in murine Nf1 optic glioma.Annals of clinical and translational neurology · 2024Article
- Gender-Specific Fine Motor Skill Learning Is Impaired by Myelin-Targeted Neurofibromatosis Type 1 Gene Mutation.Cancers · 2024Article
28 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
objectiveChildren with neurofibromatosis-1 (NF1) are at risk for developing numerous nervous system abnormalities, including cognitive problems and brain tumors (optic pathway glioma). Currently, there are few prognostic factors that predict clinical manifestations or outcomes in patients, even in families with an identical NF1 gene mutation. In this study, we leveraged Nf1 genetically engineered mice (GEM) to define the potential role of sex as a clinically relevant modifier of NF1-associated neuronal dysfunction.
methodsDeidentified clinical data were analyzed to determine the impact of sex on optic glioma-associated visual decline in children with NF1. In addition, Nf1 GEM were employed as experimental platforms to investigate sexually dimorphic differences in learning/memory, visual acuity, retinal ganglion cell (RGC) death, and Nf1 protein (neurofibromin)-regulated signaling pathway function (Ras activity, cyclic adenosine monophosphate [cAMP], and dopamine levels).
resultsFemale patients with NF1-associated optic glioma were twice as likely to undergo brain magnetic resonance imaging for visual symptoms and 3× more likely to require treatment for visual decline than their male counterparts. As such, only female Nf1 GEM exhibited a decrement in optic glioma-associated visual acuity, shorter RGC axons, and attenuated cAMP levels. In contrast, only male Nf1 GEM showed spatial learning/memory deficits, increased Ras activity, and reduced dopamine levels.
interpretationCollectively, these observations establish sex as a major prognostic factor underlying neuronal dysfunction in NF1, and suggest that sex should be considered when interpreting future preclinical and clinical study results.
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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.