FOP HO early lesion single cell sequencing
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ABSTRACT:
PROVIDER: PRJNA1300290 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:experiment for single cell sequencing of early FOP lesion to determine the pathogenesis of HO lesion development
2025-08-08 | GSE304287 | GEO
Project description:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification (HO) in soft tissues due to a heterozygous mutation of the ACVR1A/ALK2 gene (FOP-ACVR1A), which erroneously transduces the BMP signal by Activin-A. Although inflammation is known to trigger HO in FOP, the role of FOP-ACVR1A on inflammatory cells remains to be elucidated. Here we investigated this issue using immortalized monocytic cell lines from FOP-iPSCs (FOP-ML) and mutation-rescued iPSCs (resFOP-ML). Without any stimulation, FOP-ML showed the pro-inflammatory signature of CD16+ monocytes with an up-regulation of INHBA gene, and treatment of resFOP-ML with Activin-A induced an expression profile consistent with FOP-ML at baseline. Treatment of FOP-ML with Activin-A further induced the inflammatory profile with the up-regulation of inflammation-associated genes, some of which were suppressed by corticosteroid. Experiments using an inhibitor for TGFβ or BMP signals demonstrated that Activin-A-induced genes, such as CD16 and CCL7, were regulated by both signals, indicating Activin-A transduced dual signals in FOP-ML. A comparison with resFOP-ML identified several down-regulated genes in FOP-ML, including LYVE-1, which is known to suppress matrix-formation in vivo. The down-regulation of LYVE-1 in HO tissues was confirmed in FOP model mice, verifying the in vitro experiments. These results indicate that FOP-ML faithfully recapitulated the phenotype of primary monocytes in FOP and its combination with resFOP-ML is useful for investigating the molecular events at the initial inflammation stage of HO in FOP.
2022-05-12 | GSE183525 | GEO
Project description:We described a genetic map of PBMCs in FOP patients by using single-cell RNA sequencing for the first time.
2024-07-01 | GSE156464 | GEO
Project description:Single cell RNA-sequencing of PBMCs in FOP patients
| PRJNA658057 | ENA
Project description:Heterotopic ossification (HO), the aberrant bone in soft tissues, is one of the most debilitating complications associated with severe burn and traumatic injuries as well as joint replacement surgeries due to its insidious development. Currently, no technologies exist to either support early HO detection or to guide early prophylactic strategies. Furthermore, no technologies exist to assess treatment efficacy. In this study, we used microfluidic iChip, designed to isolate circulating rare non-hematopoietic cells from whole blood, to isolate and analyze circulating mesenchymal progenitor cells (cMPCs) released in a clinically relevant mouse model of traumatic HO. RNA sequencing of cMPCs revealed the unique expression of HO-associated MPC genes observed as soon as 6 hours post HO-inducing injury, 41 days earlier than gold standard radiographic diagnostic strategies. Using multiple lineage tracing systems, we determined that the cMPCs derived from the periosteum rather than the bone marrow. We then formulated a cMPC HO score and evaluated the diagnostic ability of the liquid biopsy approach for the early detection of HO. By using Youden’s J Statistic for optimizing sensitivity and specificity, our score yielded a sensitivity of 82% and specificity of 100% for detecting HO in mice.
2026-01-18 | GSE267144 | GEO
Project description:We compared the transcriptome of sorted muscle stem/progenitor cells differentiated from control and FOP (ACVR1 R206H (c.617>A)) human induced pluripotent stem cells.
2021-12-29 | GSE151918 | GEO
Project description:Comparison of gene expressions among FOP- or resFOP-iMSCs after chondrogenic differentiation with or without Activin-A. Comparison of gene expressions among FOP- or resFOP-iMSCs after chondrogenic differentiation with or without Activin-A.
2015-12-09 | E-GEOD-69459 | biostudies-arrayexpress
Project description:Analyzed differentially expressed genes among FOP- or resFOP-iMSCs treated by several ligands: Activin-A, 100 ng/mL; BMP-7, 100 ng/mL; TGF-B3, 10 ng/mL Comparison of gene expressions among FOP- or resFOP-iMSCs treated 16h by several ligands
2015-12-09 | E-GEOD-62783 | biostudies-arrayexpress
Project description:Heterotopic ossification (HO), the aberrant bone in soft tissues, is one of the most debilitating complications associated with severe burn and traumatic injuries as well as joint replacement surgeries due to its insidious development. Currently, no technologies exist to either support early HO detection or to guide early prophylactic strategies. Furthermore, no technologies exist to assess treatment efficacy. In this study, we used microfluidic iChip, designed to isolate circulating rare non-hematopoietic cells from whole blood, to isolate and analyze circulating mesenchymal progenitor cells (cMPCs) released in a clinically relevant mouse model of traumatic HO. RNA sequencing of cMPCs revealed the unique expression of HO-associated MPC genes observed as soon as 6 hours post HO-inducing injury, 41 days earlier than gold standard radiographic diagnostic strategies. Using multiple lineage tracing systems, we determined that the cMPCs derived from the periosteum rather than the bone marrow. We then formulated a cMPC HO score and evaluated the diagnostic ability of the liquid biopsy approach for the early detection of HO. By using Youden’s J Statistic for optimizing sensitivity and specificity, our score yielded a sensitivity of 82% and specificity of 100% for detecting HO in mice.
2026-01-18 | GSE267143 | GEO
Project description:Heterotopic ossification (HO), the aberrant bone in soft tissues, is one of the most debilitating complications associated with severe burn and traumatic injuries as well as joint replacement surgeries due to its insidious development. Currently, no technologies exist to either support early HO detection or to guide early prophylactic strategies. Furthermore, no technologies exist to assess treatment efficacy. In this study, we used microfluidic iChip, designed to isolate circulating rare non-hematopoietic cells from whole blood, to isolate and analyze circulating mesenchymal progenitor cells (cMPCs) released in a clinically relevant mouse model of traumatic HO. RNA sequencing of cMPCs revealed the unique expression of HO-associated MPC genes observed as soon as 6 hours post HO-inducing injury, 41 days earlier than gold standard radiographic diagnostic strategies. Using multiple lineage tracing systems, we determined that the cMPCs derived from the periosteum rather than the bone marrow. We then formulated a cMPC HO score and evaluated the diagnostic ability of the liquid biopsy approach for the early detection of HO. By using Youden’s J Statistic for optimizing sensitivity and specificity, our score yielded a sensitivity of 82% and specificity of 100% for detecting HO in mice.
2026-01-18 | GSE267142 | GEO