ArticleAmerican journal of human genetics2006
Double inactivation of NF1 in tibial pseudarthrosis.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 162 citations in OpenAlex.
- Pervasive Somatic Mutations inbioRxiv : the preprint server for biology · 2026Article
- MEK inhibitor mirdametinib promotes fracture healing in osteofibrous dysplasia RASopathy.The Journal of clinical investigation · 2026Article
- Molecular Basis of Fracture Pseudarthrosis Associated with Neurofibromatosis Type 1.Journal of the Pediatric Orthopaedic Society of North America · 2025Review
- Persistent Congenital Tibial Pseudoarthrosis until Adulthood Treated with Vascularised Fibular Graft: A 17-year Follow-up.Journal of plastic and reconstructive surgery · 2025Article
- Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.Orphanet journal of rare diseases · 2025Article
- Spatial transcriptomics implicates impaired BMP signaling in NF1 fracture pseudarthrosis in murine and patient tissues.JCI insight · 2024Article
- MEK-SHP2 inhibition prevents tibial pseudarthrosis caused byScience translational medicine · 2024Article
- 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
- The role of Clec11a in bone construction and remodeling.Frontiers in endocrinology · 2024Review
- Dietary intervention rescues a bone porosity phenotype in a murine model of Neurofibromatosis Type 1 (NF1).PloS one · 2024Article
- Questions about Using the Induced Membrane Technique to Manage Cases of Congenital Tibial Pseudarthrosis.Cells · 2023Article
- Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- Somatic Double Inactivation ofHuman mutation · 2023Article
- Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.Human genetics · 2022Article
- Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.JCO precision oncology · 2022Article
- Review
- Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.Frontiers in psychiatry · 2022Article
- Dermatologic Manifestations of Endocrine Disorders.Cureus · 2021Review
- Review
- MEK inhibitors - novel targeted therapies of neurofibromatosis associated benign and malignant lesions.Biomarker research · 2021Review
2 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Osseous abnormalities, including long-bone dysplasia with pseudarthrosis (PA), are associated with neurofibromatosis type 1 (NF1). Prospectively acquired tissue from the PA site of two individuals with NF1 was used for immunohistochemical characterization and genotype analysis of the NF1 locus. Typical immunohistochemical features of neurofibroma were not observed. Genotype analysis of PA tissue with use of four genetic markers (D17S1863, GXALU, IN38, and 3NF1-1) spanning the NF1 locus demonstrated loss of heterozygosity. These results are the first to document double inactivation of NF1 in PA tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1.
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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.