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Browsing publications by Dr Colin Miles

Newcastle AuthorsTitleYearFull text
Sumaya Alkanderi
Dr Elisa Molinari
Veronica Sammut
Dr Simon Ramsbottom
Dr Shalabh Srivastava
et al.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition2018
Dr Elisa Molinari
Holly Mabillard
Dr Shalabh Srivastava
Dr Katrina Wood
Sumaya Alkanderi
et al.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants2018
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Shalabh Srivastava
Sumaya Alkanderi
Laura Devlin
et al.
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model2018
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Shalabh Srivastava
Sumaya Alkanderi
Laura Devlin
et al.
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model2018
Dr Shalabh Srivastava
Dr Simon Ramsbottom
Dr Elisa Molinari
Sumaya Alkanderi
Dr Andrew Filby
et al.
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies2017
Dr Ann Marie Hynes
Dr Shalabh Srivastava
Dr Colin Miles
Professor John Sayer
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome2015
Dr Simon Ramsbottom
Dr Colin Miles
Professor John Sayer
Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles2015
Dr Shalabh Srivastava
Dr Ann Marie Hynes
Dr Colin Miles
Professor John Sayer
Studying mechanisms underlying cystogenesis in NPHP6 in an ex vivo murine collecting duct cell line2015
Nouf Al-Ajmi
Dr Gabriele Saretzki
Dr Colin Miles
Professor Ioakim Spyridopoulos
Dietary restriction ameliorates haematopoietic ageing independent of telomerase, whilst lack of telomerase and short telomeres exacerbate the ageing phenotype2014
Dr Ann Marie Hynes
Dr Shalabh Srivastava
Dr Lorraine Eley
Dr Marina Danilenko
Dr Peter Thelwall
et al.
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis2014
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