Single nuclei RNAseq of the human periosteum from patients with congenital pseudarthrosis of the tibia
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA972648 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR24557444.fastq.gz | Fastqsanger.gz | |||
| SRR24557445.fastq.gz | Fastqsanger.gz | |||
| SRR24557446.fastq.gz | Fastqsanger.gz | |||
| SRR24557447.fastq.gz | Fastqsanger.gz | |||
| SRR24557448.fastq.gz | Fastqsanger.gz |
Items per page: 5 1 - 5 of 8 |
Similar Datasets
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
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 and in periosteal skeletal/stem progenitor cells (pSSPCs) at the pseudarthrosis site.
2024-07-24 | GSE234071 | GEO
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
Project description:RNAseq of periosteal stem/progenitor cells from patients with congenital pseudarthrosis of the tibia
| PRJNA979261 | ENA
Project description:Purpose: Congenital pseudarthrosis of the tibia (CPT) is an uncommon disease. The biological properties, molecular patterns, and regulatory mechanisms of periosteal-derived mesenchymal stromal cells (PDMSCs) remain unclear. Methods: PDMSCs were separated from patients with either CPT or control donors. The purity of stem cells was determined by flow cytometry. Using osteogenic induction culture and Co-culture THP1-derived macrophage and PDMSCs, the osteogenic and osteoclastic activities were determined by histological examination and western blot analysis. The differential expression of lncRNA/mRNA was analyzed through RNA-Seq. Results: The proportion of CD31 and CD34 positive cells were less than 1.5%, while CD44 and CD90 positive cells were higher than 95% in PDMSCs. After osteogenic differentiation induction, the calcium nodule formation and osteogenic protein indicators levels were lower in CPT-PDMSCs. Co-culture THP1-derived macrophage and PDMSCs, after osteoclast differentiation induction, dissolved hydroxyapatite plate activity, osteoclastic protein indicators levels of co-culture with CPT PDMSCs were shown to be higher than control. RNA-seq results revealed 822 differentially expressed mRNAs and 194 differentially expressed lncRNAs, respectively. Functional analysis showed that differentially expressed lncRNAs involved in tryptophan metabolism, steroid biosynthesis, and so on. Based on differential mRNAs and lncRNAs, we conducted correlation analysis of their cis regulation, and the results showed that 27 mRNAs were cis regulated with 24 lncRNAs, a total of 30 cis-regulated combinations. Conclusion: CPT-PDMSCs has weak osteogenesis ability, but stronger ability to promotes osteoclast differentiation, we found that certain lncRNAs and mRNAs were differentially expressed in CPT-PDMSCs which have important roles in regulated osteogenesis and osteoclast differentiation.
2022-09-20 | GSE200069 | GEO
Project description:The osteogenic capacity and lncRNA/mRNA expression profile of periosteal-derived mesenchymal stem cells of congenital pseudarthrosis of the tibia
| PRJNA822819 | ENA
Project description:The development of alternatives for autologous bone grafts is a major focus of bone tissue engineering. To produce living implants, the use of skeletal stem and progenitor cells (SSPCs) are envisioned as key ingredients. SSPCs can be obtained from bone marrow, adipogenic tissue, dental pulp and periosteum. Human periosteum-derived cells (hPDCs) exhibit a number of progenitor characteristics and have well-documented in vivo bone formation capacity. Here, we have characterized and compared hPDCs derived from tibia with new sources of hPDCs, i.e. from maxilla and mandible (craniofacial hPDCs, as a potential source for tissue engineered implants for craniofacial applications.
2020-11-07 | GSE149167 | GEO
Project description:BackgroundCongenital pseudarthrosis of the tibia (CPT) is a refractory and rare disease. Because of its extremely low incidence, little is known about its clinical features. In this retrospective study, we aim to analyze the clinical characteristics of patients with CPT.Materials and methodsThis is a retrospective study of children with CPT identified by the radiological review. Investigations of CPT included general conditions, the characteristics of CPT, treatment methods, and surgical complications.ResultsWe collected 514 CPT cases from March 1999 to March 2020 in our hospital, such as 317 (61.67%) boys, 197 (38.33%) girls; 330 (62.86%) in Crawford IV; 510 (97.14%) in mid and distal 1/3 tibia; 481 (93.58%) in less than 3 years at onset age; 297 (57.78%) in less than 3 years at the first outpatient visit. The most common post-operative complication was ankle valgus (101, 39.60%), followed by limb length discrepancy (91, 35.69%), refracture (38, 14.90%), osteomyelitis (15, 5.88%), and removal of internal fixation (10, 3.93%).ConclusionsCPT with a higher incidence of Crawford IV frequently occurs in boys and the middle or distal part of the tibia; most patients have the onset age and first outpatient visit before 3 years; the major surgical complications are ankle valgus and limb length discrepancy.
| S-EPMC9452726 | biostudies-literature
Project description:Fracture healing is a process that involves many cell populations. In this study we characterized gene expression in a subset of cells involved in fracture healing. αSMACreERT2 mice crossed with Ai9 reporter mice that express tdTomato fluorescent protein after Cre-mediated activation were used as an experimental model. αSMA-expressing cells were labeled by tamoxifen administration, then periosteal cells from the tibia were isolated two days later (controls), or tibial fractures were performed and periosteum/soft callus tissue was collected after 2 and 6 days. The tdTomato positive cell population was isolated by flow cytometry, and subjected to microarray analysis. Histology and cell surface marker analysis indicates that αSMACreERT2 labels a mainly mesenchymal population in the periosteum that expands after fracture, and contributes to both osteogenic and chondrogenic elements of the fracture callus. We were therefore able to examine gene expression in a defined population during the early stages of fracture healing. Total RNA was obtained from the tomato positive cells within the periosteal compartment of fractures from αSMACreERT2/Ai9 mice. Control animals were given 2 doses of tamoxifen, and periosteum was collected and labeled cells sorted (8-9 sex-matched mice per group). Fractures were performed after the second dose of tamoxifen, and tomato positive cells from periosteum/callus tissue were isolated 2 and 6 days after fracture (4-8 animals per sample pooled). 3 replicates for each sample are included.
2013-11-27 | E-GEOD-45156 | biostudies-arrayexpress
Project description:BackgroundThis study evaluated the correlation of preoperative concurrent fibular pseudarthrosis with the risk of ankle valgus deformity in patients with congenital pseudarthrosis of the tibia (CPT) who underwent successful surgical treatment.MethodThe children with CPT who were treated at our institution between 1 January 2013 and 31 December 2020 were retrospectively reviewed. The independent variable was preoperative concurrent fibular pseudarthrosis, and the dependent variable was postoperative ankle valgus. Multivariable logistic regression analysis was performed after adjusting for variables that might affect the risk of ankle valgus. Subgroup analyses with stratified multivariable logistic regression models were used to assess this association.ResultsOf the 319 children who underwent successful surgical treatment, 140 (43.89%) developed ankle valgus deformity. Moreover, 104 (50.24%) of 207 patients with preoperative concurrent fibular pseudarthrosis developed an ankle valgus deformity compared with 36 (32.14%) of 112 patients without preoperative concurrent fibular pseudarthrosis (p=0.002). After adjusting for sex, body mass index, fracture age, age of patient undergoing surgery, surgery method, type 1 neurofibromatosis (NF-1), limb-length discrepancy (LLD), CPT location and fibular cystic change, patients with concurrent fibular pseudarthrosis presented a higher risk of ankle valgus than those without concurrent fibular pseudarthrosis (OR 2.326, 95% CI 1.345 to 4.022). This risk further increased with CPT location at the distal one-third of the tibia (OR 2.195, 95% CI 1.154 to 4.175), age <3 years of patient undergoing surgery (OR 2.485, 95% CI 1.188 to 5.200), LLD <2 cm (OR 2.478, 95% CI 1.225 to 5.015) and occurrence of NF-1 disorder (OR 2.836, 95% CI 1.517 to 5.303).ConclusionOur results indicate that patients with CPT and preoperative concurrent fibular pseudarthrosis have a significantly increased risk of ankle valgus compared with those without preoperative concurrent fibular pseudarthrosis, particularly in those with CPT location at the distal third, age <3 years at surgery, LLD <2 cm and NF-1 disorder.
| S-EPMC9972442 | biostudies-literature