Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS) subtypes and OI-EDS overlap syndromes (OIEDS1 and OIEDS2, respectively). Here we describe a cohort of 34 individuals with likely pathogenic and pathogenic variants in COL1A …

2020年7月31日 · Fibroblasts were identified by their archetypal markers LUM, DCN, VIM, PDGFRA, and COL1A2 27, constituted the most abundant skin cell type (5948 cells in total), and were represented by four clusters (#1, #2, #3, and #9, Fig. 1c and Supplementary Fig. 1c).

Mutations in COL1A1 or COL1A2 can lead to both syndromes. OI/EDS overlap syndrome is mostly caused by helical mutations near the amino-proteinase cleavage site of type I procollagen. In this study, we identified a Thai patient having OI type III, EDS, brachydactyly, and dentinogenesis imperfecta.

We describe clinical and molecular findings of 23 Japanese patients with pathogenic or likely pathogenic variants of COL1A1 or COL1A2, who had either OI‐like or EDS‐like phenotypes. The final diagnoses were OI in 17 patients, classical EDS in one, and C1ROD in five.

Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of exon 6, as well as to mild, moderate, or lethal forms of osteogenesis imperfecta as a ...

结论 本研究发现 COL1A2 基因可能是OA的关键诊断标记基因， COL1A2 可能通过细胞外基质受体通路和黏着斑信号通路等途径发挥生物学效应，中性粒细胞、树突状细胞、NK细胞、T细胞等免疫细胞在OA的免疫微环境变化中发挥着重要的作用。 本研究结果有助于深入理解OA的发病机制，为其诊断与治疗提供参考依据。 Abstract: Objective Osteoarthritis (OA) is a common degenerative joint disease, but its pathogenesis remains largely unclear.

2023年3月9日 · Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS) subtypes and OI-EDS overlap syndromes (OIEDS1 and OIEDS2

2022年7月13日 · We describe clinical and molecular findings of 23 Japanese patients with pathogenic or likely pathogenic variants of COL1A1 or COL1A2, who had either OI-like or EDS-like phenotypes. The final diagnoses were OI in 17 patients, classical EDS in …

Eight COL1A1/COL1A2 variants were novel and five recurrent with a predominance of glycine substitutions affecting residues within the procollagen N-proteinase cleavage site of α1 (I) and α2 (I) procollagens. Selected variants were investigated by biochemical, ultrastructural and immunofluorescence studies.

2024年12月24日 · COL1A2 (Collagen Type I Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL1A2 include Osteogenesis Imperfecta, Type Iv and Osteogenesis Imperfecta, Type Iii. Among its related pathways are Collagen chain trimerization and Enhanced binding of GP1BA variant to VWF multimer:collagen.