Publications by authors named "Daniel Osborn"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Daniel P Osborn

J Clin Invest· December 2025

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A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis.
Marian Seda, Berta Crespo, Michelangelo Corcelli, Daniel P Osborn, Dagan Jenkins

Sci Rep· April 2023

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Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, Mehrnoush Toufan Tabrizi, Alex Yui Bong Wan

Genet Med· April 2021

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A Technique for Studying Glomerular Filtration Integrity in the Zebrafish Pronephros.
Maria Kolatsi-Joannou, Daniel Osborn

Methods Mol Biol· December 2020

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Fgf-driven Tbx protein activities directly induce and to initiate zebrafish myogenesis.
Daniel P S Osborn, Kuoyu Li, Stephen J Cutty, Andrew C Nelson, Fiona C Wardle

Development· April 2020

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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Matias Wagner, Daniel P S Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer

Nat Commun· October 2019

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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, Olof Danielsson, Afsoon Fazlinezhad

Hum Mol Genet· June 2019

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Synaptotagmin 5 regulates Ca-dependent Weibel-Palade body exocytosis in human endothelial cells.
Camille Lenzi, Jennifer Stevens, Daniel Osborn, Matthew J Hannah, Ruben Bierings

J Cell Sci· February 2019

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Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Gianina Ravenscroft, Irina T Zaharieva, Carlo A Bortolotti, Matteo Lambrughi, Marcello Pignataro, Daniel P S Osborn

Hum Mol Genet· December 2018

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WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
Yeon-Joo Kim, Daniel Ps Osborn, Ji-Young Lee, Masatake Araki, Kimi Araki

EMBO Rep· February 2018

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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Daniel P S Osborn, Heather L Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J Munn

Am J Hum Genet· March 2017

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Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function.
Ryan A Marshall, Daniel P S Osborn

Cilia· May 2016

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Clinical predictors of abnormal magnetic resonance imaging findings in patients with asymmetric sensorineural hearing loss.
Syed F Ahsan, Robert Standring, Daniel A Osborn, Ed Peterson, Michael Seidman

JAMA Otolaryngol Head Neck Surg· May 2015

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Evaluation of zebrafish kidney function using a fluorescent clearance assay.
Sonia Christou-Savina, Philip L Beales, Daniel P S Osborn

J Vis Exp· February 2015

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Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies.
Daniel P S Osborn, Rosa Maria Roccasecca, Fiona McMurray, Victor Hernandez-Hernandez, Sriparna Mukherjee

PLoS One· December 2014

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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.
Magdalena Cardenas-Rodriguez, Florencia Irigoín, Daniel P S Osborn, Cecilia Gascue, Nicholas Katsanis

Hum Mol Genet· October 2013

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Asymptomatic bowel perforation by abandoned ventriculoperitoneal shunt.
Eric K Rinker, Daniel A Osborn, Todd R Williams, David L Spizarny

J Radiol Case Rep· September 2013

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Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.
Magdalena Cardenas-Rodriguez, Daniel P S Osborn, Florencia Irigoín, Martín Graña, Héctor Romero

Hum Genet· January 2013

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Heat shock induces rapid resorption of primary cilia.
Natalia V Prodromou, Clare L Thompson, Daniel P S Osborn, Kathryn F Cogger, Rachel Ashworth

J Cell Sci· September 2012

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Cesarean scar pregnancy: sonographic and magnetic resonance imaging findings, complications, and treatment.
Daniel A Osborn, Todd R Williams, Brian M Craig

J Ultrasound Med· September 2012

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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Caroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, Elyes Chabchoub, Victor Hernandez-Hernandez

Nat Genet· March 2011

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Cdkn1c drives muscle differentiation through a positive feedback loop with Myod.
Daniel P S Osborn, Kuoyu Li, Yaniv Hinits, Simon M Hughes

Dev Biol· February 2011

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Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish.
Helen L May-Simera, Masatake Kai, Victor Hernandez, Daniel P S Osborn, Masazumi Tada

Dev Biol· September 2010

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Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A Brown, Francesco Emma

Am J Hum Genet· June 2010

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Basal body stability and ciliogenesis requires the conserved component Poc1.
Chad G Pearson, Daniel P S Osborn, Thomas H Giddings, Philip L Beales, Mark Winey

J Cell Biol· December 2009

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