Human Gene Set: SU_HO_FOETAL_FEMUR_C1_RESTING_CHONDROCYTE


Standard name SU_HO_FOETAL_FEMUR_C1_RESTING_CHONDROCYTE
Systematic name M49199
Brief description Characterized by the expression of transcription factor SOX9, as well as type II, IV, and VI collagens (COL2A1, COL9A1, and COL11A1) associated with the production of cartilage matrix.
Full description or abstract The transformation of benign lesions to malignant tumours is a crucial aspect of understanding chondrosarcomas, which are malignant cartilage tumours that could develop from benign chondroid lesions. However, the process of malignant transformation for chondroid lesions remains poorly understood, and no reliable markers are available to aid clinical decision-making. To address this issue, we conducted a study analysing 11 primary cartilage tumours and controls using single-cell RNA sequencing. By creating a single-cell atlas, we were able to identify the role of endoplasmic reticulum (ER) stress in the malignant transformation of conventional central chondrosarcomas (CCCS). Our research revealed that lower levels of ER stress promote chondrosarcoma growth in a patient-derived xenograft mouse model, while intensive ER stress reduces primary chondrosarcoma cell viability. Furthermore, we discovered that the NF-?B pathway alleviates ER stress-induced apoptosis during chondrosarcoma progression. Our single-cell signatures and large public data support the use of key ER stress regulators, such as DNA Damage Inducible Transcript 3 (DDIT3; also known as CHOP), as malignant markers for overall patient survival. Ultimately, our study highlights the significant role that ER stress plays in the malignant transformation of cartilaginous tumours and provides a valuable resource for future diagnostic markers and therapeutic strategies.
Collection C8: Cell Type Signature
Source publication Pubmed 38267611   Authors: Su Z,Ho JWK,Yau RCH,Lam YL,Shek TWH,Yeung MCF,Chen H,Oreffo ROC,Cheah KSE,Cheung KSC
Exact source 42003_2024_5790_MOESM6_ESM Supplementary Data 3, Sheet 2. Foetal_femur. Cluster 1. cluster.name RC
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External links https://www.nature.com/articles/s42003-024-05790-w
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Source species Homo sapiens
Contributed by Anthony Castanza (MSigDB Team)
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identifier namespace		 HUMAN_GENE_SYMBOL
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