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Molecular dissection of somatic NF1 pseudarthrosis

ABSTRACT: Molecular dissection of somatic NF1 pseudarthrosis

PROVIDER: PRJNA806667 | ENA |

REPOSITORIES: ENA

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Molecular dissection of somatic NF1 pseudarthrosis

Project description:Neurofibromatosis Type 1 (NF1) is a tumor predisposition syndrome with pleiotropic somatic manifestations, including formation of bone pseudarthrosis after fracture. The pathogenesis of NF1 pseudarthroses remains unclear, though defects in osteogenesis have been posited. Here, we applied time-series single-cell RNA-sequencing (scRNAseq) to patient-matched control and pseudarthrosis-derived primary bone mesenchymal stromal cells (MSCs). We show that osteogenesis occurs in NF1-/- MSCs. In contrast, expression of genetic pathways associated with skeletal mineralization were reduced in NF1-/- cells compared to co-cultured NF1+/- fracture-derived cells.

2022-12-13 | GSE196652 | GEO

Spatial transcriptomic analysis of a pre-clinical NF1 pseudarthrosis fracture model

Project description:Patients with Neurofibromatosis Type 1 (NF1) present with fracture pseudarthroses, though the exact mechanism underlying this abnormal healing remains unknown. Here, we performed spatial transcriptomics to spatially-define the molecular signatures across endochondral healing following fracture. Integrating single-cell sequencing of patient fracture-derived primary cells, our results provide a dynamic cellular context to the molecular dysregulation associated with somatic fracture healing defects in NF1.

2024-07-12 | GSE218046 | GEO

Single nuclei RNAseq of the human periosteum from patients with congenital pseudarthrosis of the tibia

Project description:Congenital pseudarthrosis of the tibia (CPT) is a severe pediatric disorder affecting children. CPT is characterized by tibial bowing at birth leading to spontaneous fracture and fibrous non-union. Our study showed the presence of biallelic inactivation of the NF1 gene in the periosteum at the pseudarthrosis site. To understand the impact of NF1 mutation on the periosteum, we performed single nuclei RNAseq of pathological periosteum collected from the pseudarthrosis site and of non-pathological periosteum collected from the iliac crest of 3 CPT patients.

2024-07-24 | GSE232516 | GEO

RNAseq of periosteal stem/progenitor cells from patients with congenital pseudarthrosis of the tibia

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Spatial transcriptomic analysis of a pre-clinical NF1 pseudarthrosis fracture model

Project description:Spatial transcriptomic analysis of a pre-clinical NF1 pseudarthrosis fracture model

| PRJNA901981 | ENA

Single nuclei RNAseq of the bone fracture callus of Prss56-Nf1 KO mice

Project description:Periosteum deficiency affects bone regeneration, especially in the case of the bone disorder congenital pseudarthrosis of the tibia (CPT). We investigated a new mouse model of CPT caused by Nf1 inactivation in boundary cap-derivatives, the Prss56Cre; R26tdTom; Nf1fl/fl model. To investigate altered healing in this CPT model, we generated a dataset of the injured periosteum and fracture callus at day-7 post fracture from Prss56Cre; R26tdTom; Nf1fl/fl mice.

2024-07-24 | GSE232517 | GEO

Molecular characterization of a series of 22 NF1-associated plexiform neurofibromas

Project description:22 plexiform neurofibromas from 18 unrelated neurofibromatosis-type 1 patients were screened with a high resolution array-CGH. Each PNF DNA (somatic tumor DNA) was individually hybridized on Agilent whole human genome 244K microarrays (Platform GPL4091) using the matched genomic constitutional DNA (lymphocytes DNA) from the corresponding patient as reference, in order to detect tumor-specific aberrations. NF1-associated plexiform neurofibromas DNA vs. constitutional DNA

2011-09-29 | E-GEOD-24328 | biostudies-arrayexpress

Array CGH of cutaneous neurofibromas (cNFs) from NF1 patients

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Array CGH of cutaneous neurofibromas (cNFs) from NF1 patients

Project description:Somatic copy number changes in cNFs samples in NF1 patients 9 cNFs and matched DNA samples were hybridised to the SurePrint G3 human 400k CGH microarray

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Double inactivation of NF1 in tibial pseudarthrosis.

Project description: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.

| S-EPMC1474128 | biostudies-literature

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