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This study investigates cardiopulmonary dysfunction in Osteogenesis imperfecta (OI) using the Aga2 mouse model and human patients, revealing that these issues arise from bone-independent mechanisms. The findings indicate significant down-regulation of collagen I transcripts in cardiac and pulmonary tissues, leading to heart dysfunction and respiratory complications, which are primary causes of mortality in severe OI cases. The research suggests that type I collagen mutations directly affect heart and lung h

Author

Diwakar Koirala

Language

EN