A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis
Seda, Marian, Crespo, Berta, Corcelli, Michelangelo, Osborn, Daniel P., Jenkins, Dagan
Published in Scientific reports (26.04.2023)
Published in Scientific reports (26.04.2023)
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Journal Article
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Beales, Philip L, Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P S, Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F, Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J, Peeters, Hilde, Alkuraya, Fowzan S
Published in Nature genetics (01.03.2011)
Published in Nature genetics (01.03.2011)
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Journal Article
Heat shock induces rapid resorption of primary cilia
Prodromou, Natalia V, Thompson, Clare L, Osborn, Daniel P S, Cogger, Kathryn F, Ashworth, Rachel, Knight, Martin M, Beales, Philip L, Chapple, J Paul
Published in Journal of cell science (15.09.2012)
Published in Journal of cell science (15.09.2012)
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Journal Article
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome
Cardenas-Rodriguez, Magdalena, Osborn, Daniel P. S., Irigoín, Florencia, Graña, Martín, Romero, Héctor, Beales, Philip L., Badano, Jose L.
Published in Human genetics (01.01.2013)
Published in Human genetics (01.01.2013)
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Journal Article
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca
Published in Nature communications (21.10.2019)
Published in Nature communications (21.10.2019)
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Journal Article
Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies
Osborn, Daniel P S, Roccasecca, Rosa Maria, McMurray, Fiona, Hernandez-Hernandez, Victor, Mukherjee, Sriparna, Barroso, Inês, Stemple, Derek, Cox, Roger, Beales, Philip L, Christou-Savina, Sonia
Published in PloS one (04.02.2014)
Published in PloS one (04.02.2014)
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Journal Article
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara
Published in American journal of human genetics (02.03.2017)
Published in American journal of human genetics (02.03.2017)
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Journal Article
Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Ravenscroft, Gianina, Zaharieva, Irina T, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley, Whyte, Tamieka, Consortium, UK10K, Manzur, Adnan, Talim, Beril, Kaya, Ulkuhan, Osborn, Daniel P S, Forrest, Alistair R R, Laing, Nigel G, Muntoni, Francesco
Published in Human molecular genetics (15.12.2018)
Published in Human molecular genetics (15.12.2018)
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Journal Article
Basal body stability and ciliogenesis requires the conserved component Poc1
Pearson, Chad G, Osborn, Daniel P.S, Giddings, Thomas H. Jr, Beales, Philip L, Winey, Mark
Published in The Journal of cell biology (14.12.2009)
Published in The Journal of cell biology (14.12.2009)
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Journal Article
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left–right asymmetry in zebrafish
May-Simera, Helen L., Kai, Masatake, Hernandez, Victor, Osborn, Daniel P.S., Tada, Masazumi, Beales, Philip L.
Published in Developmental biology (15.09.2010)
Published in Developmental biology (15.09.2010)
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Journal Article
Cdkn1c drives muscle differentiation through a positive feedback loop with Myod
Osborn, Daniel P.S., Li, Kuoyu, Hinits, Yaniv, Hughes, Simon M.
Published in Developmental biology (15.02.2011)
Published in Developmental biology (15.02.2011)
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Journal Article
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24
Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda
Published in Human molecular genetics (01.06.2019)
Published in Human molecular genetics (01.06.2019)
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Journal Article
Mrf4 ( myf6) is dynamically expressed in differentiated zebrafish skeletal muscle
Hinits, Yaniv, Osborn, Daniel P.S., Carvajal, Jaime J., Rigby, Peter W.J., Hughes, Simon M.
Published in Gene Expression Patterns (01.08.2007)
Published in Gene Expression Patterns (01.08.2007)
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Journal Article
Evaluation of zebrafish kidney function using a fluorescent clearance assay
Christou-Savina, Sonia, Beales, Philip L, Osborn, Daniel P S
Published in Journal of visualized experiments (20.02.2015)
Published in Journal of visualized experiments (20.02.2015)
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Journal Article
Signals and myogenic regulatory factors restrict pax3 and pax7 expression to dermomyotome-like tissue in zebrafish
Hammond, Christina L., Hinits, Yaniv, Osborn, Daniel P.S., Minchin, James E.N., Tettamanti, Gianluca, Hughes, Simon M.
Published in Developmental biology (15.02.2007)
Published in Developmental biology (15.02.2007)
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Journal Article
WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
Kim, Yeon‐Joo, Osborn, Daniel PS, Lee, Ji‐Young, Araki, Masatake, Araki, Kimi, Mohun, Timothy, Känsäkoski, Johanna, Brandstack, Nina, Kim, Hyun‐Taek, Miralles, Francesc, Kim, Cheol‐Hee, Brown, Nigel A, Kim, Hyung‐Goo, Martinez‐Barbera, Juan Pedro, Ataliotis, Paris, Raivio, Taneli, Layman, Lawrence C, Kim, Soo‐Hyun
Published in EMBO reports (01.02.2018)
Published in EMBO reports (01.02.2018)
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Journal Article