ArticleAmerican journal of medical genetics. Part A2011
Multiple increased osteoclast functions in individuals with neurofibromatosis type 1.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 49 citations in OpenAlex.
- Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2019Trial
- Treatment of giant encephalocele and occipital defect in a child with neurofibromatosis type 1: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Efficacy of Bisphosphonate in Patients with Neurofibromatosis Type 1.Journal of bone metabolism · 2025Article
- Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.Journal of neurodevelopmental disorders · 2024Review
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.Clinical trials (London, England) · 2024Review
- The Role of Aryl Hydrocarbon Receptor in Bone Biology.International journal of tryptophan research : IJTR · 2024Review
- Generation of heterozygous and homozygous NF1 lines from human-induced pluripotent stem cells using CRISPR/Cas9 to investigate bone defects associated with neurofibromatosis type 1.Frontiers in cell and developmental biology · 2024Article
- Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity.Scientific reports · 2022Article
- The Extracellular Signal-Regulated Kinase Mitogen-Activated Protein Kinase Pathway in Osteoblasts.Journal of bone metabolism · 2022Article
- Review
- Familial left cervical neurofibromatosis 1 with scoliosis: A case report.World journal of clinical cases · 2021Article
- Use of Surgical Laser for Excision of a Neurofibroma Associated With Neurofibromatosis Type-1.Journal of lasers in medical sciences · 2018Article
- Aberrant Myeloid Differentiation Contributes to the Development of Osteoporosis in Neurofibromatosis Type 1.Current osteoporosis reports · 2016Review
- Nf1 Haploinsufficiency Alters Myeloid Lineage Commitment and Function, Leading to Deranged Skeletal Homeostasis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Article
- Akt- or MEK-mediated mTOR inhibition suppresses Nf1 optic glioma growth.Neuro-oncology · 2015Article
- Hyperactive RAS/PI3-K/MAPK Signaling Cascade in Migration and Adhesion of Nf1 Haploinsufficient Mesenchymal Stem/Progenitor Cells.International journal of molecular sciences · 2015Article
- Article
- Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I.Case reports in orthopedics · 2015Article
- Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain.Frontiers in cellular neuroscience · 2014Article
Corrections and comments
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Authors and funding
24 authors at 6 institutions in 2 countries.
Funding
Abstract
Skeletal abnormalities including scoliosis, tibial dysplasia, sphenoid wing dysplasia, and decreased bone mineral density (BMD) are associated with neurofibromatosis type 1 (NF1). We report the cellular phenotype of NF1 human-derived osteoclasts and compare the in vitro findings with the clinical phenotype. Functional characteristics (e.g., osteoclast formation, migration, adhesion, resorptive capacity) and cellular mechanistic alterations (e.g., F-actin polymerization, MAPK phosphorylation, RhoGTPase activity) from osteoclasts cultured from peripheral blood of individuals with NF1 (N = 75) were assessed. Osteoclast formation was compared to phenotypic, radiologic, and biochemical data. NF1 osteoprogenitor cells demonstrated increased osteoclast forming capacity. Human NF1-derived osteoclasts demonstrated increased migration, adhesion, and in vitro bone resorption. These activities coincided with increased actin belt formation and hyperactivity in MAPK and RhoGTPase pathways. Although osteoclast formation was increased, no direct correlation of osteoclast formation with BMD, markers of bone resorption, or the clinical skeletal phenotype was observed suggesting that osteoclast formation in vitro cannot directly predict NF1 skeletal phenotypes. While NF1 haploinsufficiency produces a generalized osteoclast gain-in-function and may contribute to increased bone resorption, reduced BMD, and focal skeletal defects associated with NF1, additional and perhaps local modifiers are likely required for the development of skeletal abnormalities in NF1.
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Registered trials
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