Cho, S.Y., Asharani, P.V., Kim, O.H., Iida, A., Miyake, N., Matsumoto, N., Nishimura, G., Ki, C.S., Hong, G., Kim, S.J., Sohn, Y.B., Park, S.W., Lee, J., Kwun, Y., Carney, T.J., Huh, R., Ikegawa, S., Jin, D.K. (2015) Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. Human Mutation. 36(2):191-5
|
Cotti, S., Huysseune, A., Larionova, D., Koppe, W., Forlino, A., Witten, P.E. (2022) Compression Fractures and Partial Phenotype Rescue With a Low Phosphorus Diet in the Chihuahua Zebrafish Osteogenesis Imperfecta Model. Frontiers in endocrinology. 13:851879
|
|
Fiedler, I.A.K., Schmidt, F.N., Wölfel, E.M., Plumeyer, C., Milovanovic, P., Gioia, R., Tonelli, F., Bale, H.A., Jähn, K., Besio, R., Forlino, A., Busse, B. (2018) Severely impaired bone material quality in Chihuahua zebrafish resembles classical dominant human osteogenesis imperfecta. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 33(8):1489-1499
|
|
Gioia, R., Tonelli, F., Ceppi, I., Biggiogera, M., Leikin, S., Fisher, S., Tenedini, E., Yorgan, T.A., Schinke, T., Tian, K., Schwartz, J.M., Forte, F., Wagener, R., Villani, S., Rossi, A., Forlino, A. (2017) The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. Human molecular genetics. 26(15):2897-2911
|
Gistelinck, C., Kwon, R.Y., Malfait, F., Symoens, S., Harris, M.P., Henke, K., Hawkins, M.B., Fisher, S., Sips, P., Guillemyn, B., Bek, J.W., Vermassen, P., De Saffel, H., Witten, P.E., Weis, M., De Paepe, A., Eyre, D.R., Willaert, A., Coucke, P.J. (2018) Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies. Proceedings of the National Academy of Sciences of the United States of America. 115(34):E8037-E8046
|
|
Hur, M., Gistelinck, C.A., Huber, P., Lee, J., Thompson, M.H., Monstad-Rios, A.T., Watson, C.J., McMenamin, S.K., Willaert, A., Parichy, D.M., Coucke, P., Kwon, R.Y. (2017) microCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system. eLIFE. 6
|
|