{"database":"biostudies-arrayexpress","file_versions":[],"scores":null,"additional":{"submitter":["Song-po Shen"],"organism":["Homo sapiens"],"software":["R"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/E-MTAB-15232"],"description":["Discoid meniscus is a morphological abnormality with a higher prevalence in Asian populations (15%-20%) compared to American populations (3%-5%). Although most patients are asymptomatic, discoid meniscus are more susceptible to injury than normal menisci. Currently, our understanding of its pathogenesis and pathophysiology remains limited. In this study, we employed single-cell RNA sequencing to analyze four cases of discoid meniscus (including three lateral and one medial) and three control meniscus samples, revealing differences in cell types and extracellular matrix composition between the two groups. Our findings indicate that the activation of BMP and HIF1A signaling pathways, along with the inactivation of the Wnt signaling pathway, may contribute to discoid meniscus development, with the transcription factor SCX identified as a key regulatory factor. These findings provide new insights into the pathogenesis of discoid meniscus and may offer a theoretical foundation for future therapeutic strategies."],"repository":["biostudies-arrayexpress"],"sample_protocol":["Library Construction - Library construction using 10x Genomics library construction protocol","Nucleic Acid Extraction - Dissociation: Breaking down tissues into individual cells or nuclei Isolation: Standardized separation of nuclei from tissues using the Chromium Nuclei Isolation Kit","Sample Collection - The experimental group included three specimens of complete lateral discoid meniscus and one specimen of complete medial discoid meniscus; the control group included three specimens of lateral non-discoid meniscus. No duplicate samples were used.","Sequencing - Illumina NovaSeq 6000"],"figure_sub":["Organization","MINSEQE Score","Assays and Data","Processed Data","MAGE-TAB Files"],"data_protocol":["Data Transformation - Convert raw UMI counts to normalized values of 10,000 molecules per cell。Formula: log(counts/total_counts * scale_factor + 1)。Default scale_factor = 10,000"],"omics_type":["Metabolomics","Unknown","Transcriptomics","Genomics","Proteomics"],"instrument_platform":["computer","10x Genomics","Illumina NovaSeq 6000"],"study_type":["RNA-seq of coding RNA from single cells"],"species":["Homo sapiens"],"pubmed_authors":["Song-po Shen"],"additional_accession":[]},"is_claimable":false,"name":"Single-Cell RNA Sequencing Reveals the Cellular and Molecular Characterization of Discoid Meniscus","description":"Discoid meniscus is a morphological abnormality with a higher prevalence in Asian populations (15%-20%) compared to American populations (3%-5%). Although most patients are asymptomatic, discoid meniscus are more susceptible to injury than normal menisci. Currently, our understanding of its pathogenesis and pathophysiology remains limited. In this study, we employed single-cell RNA sequencing to analyze four cases of discoid meniscus (including three lateral and one medial) and three control meniscus samples, revealing differences in cell types and extracellular matrix composition between the two groups. Our findings indicate that the activation of BMP and HIF1A signaling pathways, along with the inactivation of the Wnt signaling pathway, may contribute to discoid meniscus development, with the transcription factor SCX identified as a key regulatory factor. These findings provide new insights into the pathogenesis of discoid meniscus and may offer a theoretical foundation for future therapeutic strategies.","dates":{"release":"2025-07-09T00:00:00Z","modification":"2025-06-17T14:29:17.355Z","creation":"2025-06-17T12:35:39.927Z"},"accession":"E-MTAB-15232","cross_references":{"ENA":["ERP173545"],"EFO":["EFO_0002944","EFO_0004170","EFO_0005684","EFO_0005518","EFO_0003816","EFO_0004184"]}}