Publications by authors named "Simon Ramsbottom"

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Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Miguel Barroso-Gil, Eric Olinger, Simon A Ramsbottom, Elisa Molinari, Colin G Miles

Mol Genet Genomic Med· December 2021

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Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Simon A Ramsbottom, Peter E Thelwall, Katrina M Wood, Gavin J Clowry, Laura A Devlin

Proc Natl Acad Sci U S A· January 2020

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Using zebrafish to study the function of nephronophthisis and related ciliopathy genes.
Elisa Molinari, Simon A Ramsbottom, Veronica Sammut, Frances E P Hughes, John A Sayer

F1000Res· September 2019

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A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.
Kari-Anne M Frikstad, Elisa Molinari, Marianne Thoresen, Simon A Ramsbottom, Frances Hughes

Cell Rep· August 2019

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Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.
Elisa Molinari, Simon A Ramsbottom, Shalabh Srivastava, Philip Booth, Sumaya Alkanderi

Sci Rep· July 2019

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Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Elisa Molinari, Eva Decker, Holly Mabillard, James Tellez, Shalabh Srivastava, Simon A Ramsbottom

Eur J Hum Genet· December 2018

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Targeted exon skipping of a mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Simon A Ramsbottom, Elisa Molinari, Shalabh Srivastava, Flora Silberman, Charline Henry

Proc Natl Acad Sci U S A· December 2018

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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen, Yasmin Elmaghloob, Louise A Stephen, Simon A Ramsbottom

Am J Hum Genet· October 2018

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A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
Noel Edwards, Eric Olinger, Jennifer Adam, Michael Kelly, Guglielmo Schiano, Simon A Ramsbottom

Nephrol Dial Transplant· December 2017

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A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Shalabh Srivastava, Simon A Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby

Hum Mol Genet· December 2017

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From disease modelling to personalised therapy in patients with mutations.
Elisa Molinari, Shalabh Srivastava, John A Sayer, Simon A Ramsbottom

F1000Res· May 2017

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Regulation of Hedgehog Signalling Inside and Outside the Cell.
Simon A Ramsbottom, Mary E Pownall

J Dev Biol· July 2016

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Using Confocal Analysis of Xenopus laevis to Investigate Modulators of Wnt and Shh Morphogen Gradients.
Simon W Fellgett, Simon A Ramsbottom, Richard J Maguire, Stephen Cross, Peter O'Toole

J Vis Exp· December 2015

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Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles.
Simon Ramsbottom, Colin Miles, John Sayer

F1000Res· November 2015

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Genetics of cardiovascular development.
Bill Chaudhry, Simon Ramsbottom, Deborah J Henderson

Prog Mol Biol Transl Sci· April 2015

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Vangl2-regulated polarisation of second heart field-derived cells is required for outflow tract lengthening during cardiac development.
Simon A Ramsbottom, Vipul Sharma, Hong Jun Rhee, Lorraine Eley, Helen M Phillips

PLoS Genet· December 2014

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Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium.
Veronika Boczonadi, Rachel Gillespie, Iain Keenan, Simon A Ramsbottom, Charlotte Donald-Wilson

Cardiovasc Res· October 2014

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Sulf1 influences the Shh morphogen gradient during the dorsal ventral patterning of the neural tube in Xenopus tropicalis.
Simon A Ramsbottom, Richard J Maguire, Simon W Fellgett, Mary Elizabeth Pownall

Dev Biol· July 2014

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Lin28 proteins are required for germ layer specification in Xenopus.
Laura Faas, Fiona C Warrander, Richard Maguire, Simon A Ramsbottom, Diana Quinn

Development· March 2013

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Gsx transcription factors repress Iroquois gene expression.
Emily F Winterbottom, Simon A Ramsbottom, Harry V Isaacs

Dev Dyn· June 2011

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Cyclin E is recruited to the nuclear matrix during differentiation, but is not recruited in cancer cells.
Jennifer Munkley, Nikki A Copeland, Victoria Moignard, John R P Knight, Erin Greaves, Simon A Ramsbottom

Nucleic Acids Res· April 2011

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