Search Results - "Osborn, Daniel P S"

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome by 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

“…Phil Beales and colleagues show that mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome, a disorder that includes…”
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Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome by Cardenas-Rodriguez, Magdalena, Osborn, Daniel P. S., Irigoín, Florencia, Graña, Martín, Romero, Héctor, Beales, Philip L., Badano, Jose L.

“…Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that is generally inherited in an autosomal recessive fashion. However, in some families,…”
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Heat shock induces rapid resorption of primary cilia by Prodromou, Natalia V, Thompson, Clare L, Osborn, Daniel P S, Cogger, Kathryn F, Ashworth, Rachel, Knight, Martin M, Beales, Philip L, Chapple, J Paul

“…Primary cilia are involved in important developmental and disease pathways, such as the regulation of neurogenesis and tumorigenesis. They function as sensory…”
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Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies by 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

“…Common intronic variants in the Human fat mass and obesity-associated gene (FTO) are found to be associated with an increased risk of obesity. Overexpression…”
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Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function by Marshall, Ryan A, Osborn, Daniel P S

“…Understanding the role of basal bodies (BBs) during development and disease has been largely overshadowed by research into the function of the cilium. Although…”
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia by 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

“…Alterations of Ca 2+ homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca 2+ efflux from the endoplasmic reticulum into the…”
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Differential requirements for myogenic regulatory factors distinguish medial and lateral somitic, cranial and fin muscle fibre populations by Hinits, Yaniv, Osborn, Daniel P S, Hughes, Simon M

“…Myogenic regulatory factors of the Myod family (MRFs) are transcription factors essential for mammalian skeletal myogenesis. However, the roles of each gene in…”
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy by 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

“…Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings…”
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Bi-allelic mutations in MYL1 cause a severe congenital myopathy by 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

“…Abstract Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene…”
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Basal body stability and ciliogenesis requires the conserved component Poc1 by Pearson, Chad G, Osborn, Daniel P.S, Giddings, Thomas H. Jr, Beales, Philip L, Winey, Mark

“…Centrioles are the foundation for centrosome and cilia formation. The biogenesis of centrioles is initiated by an assembly mechanism that first synthesizes the…”
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Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left–right asymmetry in zebrafish by May-Simera, Helen L., Kai, Masatake, Hernandez, Victor, Osborn, Daniel P.S., Tada, Masazumi, Beales, Philip L.

“…Laterality defects such as situs inversus are not uncommonly encountered in humans, either in isolation or as part of another syndrome, but can have…”
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Cdkn1c drives muscle differentiation through a positive feedback loop with Myod by Osborn, Daniel P.S., Li, Kuoyu, Hinits, Yaniv, Hughes, Simon M.

“…Differentiation often requires conversion of analogue signals to a stable binary output through positive feedback. Hedgehog (Hh) signalling promotes myogenesis…”
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Fgf-driven Tbx protein activities directly induce myf5 and myod to initiate zebrafish myogenesis by Osborn, Daniel P S, Li, Kuoyu, Cutty, Stephen J, Nelson, Andrew C, Wardle, Fiona C, Hinits, Yaniv, Hughes, Simon M

“…Skeletal muscle derives from dorsal mesoderm formed during vertebrate gastrulation. Fibroblast growth factor (Fgf) signalling cooperates with Tbx transcription…”
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Mrf4 ( myf6) is dynamically expressed in differentiated zebrafish skeletal muscle by Hinits, Yaniv, Osborn, Daniel P.S., Carvajal, Jaime J., Rigby, Peter W.J., Hughes, Simon M.

“…Mrf4 (Myf6) is a member of the basic helix–loop–helix (bHLH) myogenic regulatory transcription factor (MRF) family, which also contains Myod, Myf5 and…”
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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 by 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

“…Abstract Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown…”
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Evaluation of zebrafish kidney function using a fluorescent clearance assay by Christou-Savina, Sonia, Beales, Philip L, Osborn, Daniel P S

“…The zebrafish embryo offers a tractable model to study organogenesis and model human genetic disease. Despite its relative simplicity, the zebrafish kidney…”
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Signals and myogenic regulatory factors restrict pax3 and pax7 expression to dermomyotome-like tissue in zebrafish by Hammond, Christina L., Hinits, Yaniv, Osborn, Daniel P.S., Minchin, James E.N., Tettamanti, Gianluca, Hughes, Simon M.

“…Pax3/7 paired homeodomain transcription factors are important markers of muscle stem cells. Pax3 is required upstream of myod for lateral dermomyotomal cells…”
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WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome by 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

“…WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by…”
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Vestigial-like-2b (VITO-1b) and Tead-3a (Tef-5a) expression in zebrafish skeletal muscle, brain and notochord by Mann, Christopher J., Osborn, Daniel P.S., Hughes, Simon M.

“…The vestigial gene has been shown to control skeletal muscle formation in Drosophila and the related Vestigial-like 2 (Vgl-2) protein plays a similar role in…”
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The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex by Cardenas-Rodriguez, Magdalena, Irigoín, Florencia, Osborn, Daniel P S, Gascue, Cecilia, Katsanis, Nicholas, Beales, Philip L, Badano, Jose L

“…CCDC28B encodes a coiled coil domain-containing protein involved in ciliogenesis that was originally identified as a second site modifier of the ciliopathy…”
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