Seda, M., Crespo, B., Corcelli, M., Osborn, D.P., and Jenkins, D. A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis. Sci Rep 13, 6783 (2023). https://doi.org/10.1038/s41598-023-33589-y
Wan YBA, Simpson MA, Dulfer E, Osborn DPS, Kerstjens-Frederikse WS, Vos YJ, Pinard A, Regalado E, Guo DC, Boileau C, Jondeau G, Benarroch L, Loeys B, Luyckx I, Van Laer L, Verstraeten A, DeBacker J, Ramachandran V, Ashraf QM, Lau L, Garcia M, Gaer J, Bharj J, Sneddon J, Fisher E, Dean J, Isekame Y, Saggar A, Milewicz D, Jahangiri M, Behr ER, Child A, Smith A, Aragon-Martin JA. (2022). Variants in LMOD1 predispose to inherited Familial Thoracic Aortic Aneurysm and Dissection (FTAAD). Genomic and Molecular Cardiology [IN PRESS]
Osborn, D.P.S*, Emrahi, L. *, Tabrizi, M.T., Wan,A., Maroofian, R., Yazdchi, M., Garcia, M., Galehdari, H., Hesse, C., Shariati, G., Mazaheri, N., Sedaghat, A., Goullée, H., Laing, N., Jamshidi, Y., Tajsharghi, H. 2020. Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. Genet Med (2020). https://doi.org/10.1038/s41436-020-01028-2
Osborn, D.P.S. *, Li, K. *, Cutty, S.J. Nelson, A.C., Wardle, F.C., Hinits, Y., Hughes, S.M. 2020. Fgf-driven Tbx protein activities directly induce myf5 and myod to initiate zebrafish myogenesis. Development 147.
Kolatsi-Joannou, M., Osborn, D., 2020. A Technique for Studying Glomerular Filtration Integrity in the Zebrafish Pronephros. Methods Mol Biol 2067, 25-39.
Osborn, D.P.S. *,,Wagner, M. *,, , Gehweiler, I., Nagel, M., Ulmer, U., Bakhtiari, S., Amouri, R., Boostani, R., Hentati, F., Hockley, M.M., Holbling, B., Schwarzmayr, T., Karimiani, E.G., Kernstock, C., Maroofian, R., Muller-Felber, W., Ozkan, E., Padilla-Lopez, S., Reich, S., Reichbauer, J., Darvish, H., Shahmohammadibeni, N., Tafakhori, A., Vill, K., Zuchner, S., Kruer, M.C., Winkelmann, J., Jamshidi, Y., Schule, R., 2019. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun 10, 4790.
Osborn, D.P.S. *, Hedberg-Oldfors, C. *, Abramsson, A.*, Danielsson, O., Fazlinezhad, A., Nilipour, Y., Hubbert, L., Nennesmo, I., Visuttijai, K., Bharj, J., Petropoulou, E., Shoreim, A., Vona, B., Ahangari, N., Lopez, M.D., Doosti, M., Banote, R.K., Maroofian, R., Edling, M., Taherpour, M., Zetterberg Md, H., Karimiani, E.G., Oldfors, A., Jamshidi, Y., 2019. Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Human molecular genetics.
Lenzi, C., Stevens, J., Osborn, D., Hannah, M.J., Bierings, R., Carter, T., 2019. Synaptotagmin 5 regulates calcium-dependent Weibel-Palade body exocytosis in human endothelial cells. Journal of cell science.
Ravenscroft, G., Zaharieva, I., Bortolotti, C.A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C.A., Phadke, R., Haliloglu, G., Ong, R., Goullee, H., Whyte, T., Consortium, U.K., Manzur, A., Talim, B., Kaya, U., Osborn, D.P., Forrest, A., Laing, N.G., Muntoni, F., 2018. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Human molecular genetics.
Kim, Y.J., Osborn, D.P., Lee, J.Y., Araki, M., Araki, K., Mohun, T., Kansakoski, J., Brandstack, N., Kim, H.T., Miralles, F., Kim, C.H., Brown, N.A., Kim, H.G., Martinez-Barbera, J.P., Ataliotis, P., Raivio, T., Layman, L.C., Kim, S.H., 2017. WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. EMBO reports.
Osborn, D. P., H. L. Pond, N. Mazaheri, J. Dejardin, C. J. Munn, K. Mushref, E. S. Cauley, I. Moroni, M. B. Pasanisi, E. A. Sellars, R. S. Hill, J. N. Partlow, R. K. Willaert, J. Bharj, R. A. Malamiri, H. Galehdari, G. Shariati, R. Maroofian, M. Mora, L. E. Swan, T. Voit, F. J. Conti, Y. Jamshidi and M. C. Manzini (2017). "Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy." Am J Hum Genet.
Marshall, R.A., Osborn, D.P., 2016. Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function. Cilia 5, 16.
Christou-Savina, S., Beales, P.L., Osborn, D.P., 2015. Evaluation of zebrafish kidney function using a fluorescent clearance assay. Journal of visualized experiments : JoVE, e52540.
Osborn, D. P., Roccasecca, R., Hernandez-Hernandez, V., Mukherjee, S., Barroso, I., Stemple, D., Beales, P.L., Christou-Savina, S. (2014) 'Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies', PLoS ONE 9(2): e87662. doi:10.1371/journal.pone.0087662.
Cardenas-Rodriguez, M., Irigoin, F., Osborn, D. P., Gascue, C., Katsanis, N., Beales, P. L. and Badano, J. L. (2013).The Bardet-Biedl syndrome modifier CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length. Human Molecular Genetics, 22(20):4031-4042 15 Oct 2013
Cardenas-Rodriguez, M., Osborn, D. P., Irigoin, F., Grana, M., Romero, H., Beales, P. L. and Badano, J. L. (2013) 'Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome', Hum Genet 132(1): 91-105.
Prodromou, N. V., Thompson, C. L., Osborn, D. P., Cogger, K. F., Ashworth, R., Knight, M. M., Beales, P. L. and Chapple, J. P. (2012) 'Heat shock induces rapid resorption of primary cilia', J Cell Sci 125(Pt 18): 4297-305.
Osborn, D. P.*, Rooryck, C.*, Diaz-Font, A.*, Chabchoub, E., Hernandez-Hernandez, V., Shamseldin, H., Kenny, J., Waters, A., Jenkins, D., Kaissi, A. A. et al. (2011) 'Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome', Nat Genet 43(3): 197-203.
Osborn, D. P.*, Li, K.*, Hinits, Y*. and Hughes, S. M. (2011) 'Cdkn1c drives muscle differentiation through a positive feedback loop with Myod', Dev Biol 350(2): 464-75.
Walczak-Sztulpa, J., Eggenschwiler, J., Osborn, D. P., Brown, D. A., Emma, F., Klingenberg, C., Hennekam, R. C., Torre, G., Garshasbi, M., Tzschach, A. et al. (2010) 'Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene', Am J Hum Genet 86(6): 949-56.
May-Simera, H. L., Kai, M., Hernandez, V., Osborn, D. P., Tada, M. and Beales, P. L. (2010) 'Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish', Dev Biol 345(2): 215-25.
Pearson, C. G., Osborn, D. P., Giddings, T. H., Jr., Beales, P. L. and Winey, M. (2009) 'Basal body stability and ciliogenesis requires the conserved component Poc1', J Cell Biol 187(6): 905-20.
Osborn, D. P.*, Hinits*, Y. and Hughes, S. M. (2009) 'Differential requirements for myogenic regulatory factors distinguish medial and lateral somitic, cranial and fin muscle fibre populations', Development 136(3): 403-14.
Hammond, C. L., Hinits, Y., Osborn, D. P., Minchin, J. E., Tettamanti, G. and Hughes, S. M. (2007) 'Signals and myogenic regulatory factors restrict pax3 and pax7 expression to dermomyotome-like tissue in zebrafish', Dev Biol 302(2): 504-21.
Hinits, Y., Osborn, D. P., Carvajal, J. J., Rigby, P. W. and Hughes, S. M. (2007) 'Mrf4 (myf6) is dynamically expressed in differentiated zebrafish skeletal muscle', Gene Expr Patterns 7(7): 738-45.
Mann, C. J., Osborn, D. P. and Hughes, S. M. (2007) 'Vestigial-like-2b (VITO-1b) and Tead-3a (Tef-5a) expression in zebrafish skeletal muscle, brain and notochord', Gene Expr Patterns 7(8): 827-36.
(* indicates that the authors contributed equally to this manuscript)