John F. Bateman

This study uses iPSC-derived cartilage to show that the Arg719Cys COL2A1 mutation causes defective proteostasis, leading to abnormal matrix deposition and disease.

The paper develops an iPSC-derived cartilage model to study COL2A1 mutations, revealing that Arg719Cys substitution causes defective collagen-II folding and secretion, leading to matrix dysfunction and osteoarthritis.

The paper identifies two COL5A1 mutations in dogs with EDS-like symptoms, confirming a genetic basis for the condition and demonstrating the utility of DNA sequencing in diagnosis.