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Browsing publications by Dr Colin Miles.

Newcastle AuthorsTitleYearFull text
Carina Oliva
Laura Powell
Dr Ian Wilson
Dr Sarah Rice
Dr Colin Miles
et al.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations2022
Dr Eric Olinger
Dr Elisa Molinari
Miguel Barroso Gil
Laura Powell
Dr Colin Miles
et al.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families2021
Dan Hayman
Dr Tamara Modebadze
Sarah Charlton
Kat Cheung
Dr Jamie Soul
et al.
Increased hippocampal excitability in miR-324-null mice2021
Miguel Barroso Gil
Dr Eric Olinger
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Colin Miles
et al.
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies2021
Laura Devlin
Dr Simon Ramsbottom
Lynne Overman
Dr Steven Lisgo
Dr Gavin Clowry
et al.
Embryonic and foetal expression patterns of the ciliopathy gene CEP1642020
Laura Powell
Miguel Barroso Gil
Dr Gavin Clowry
Laura Devlin
Dr Elisa Molinari
et al.
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development2020
Sam Charlton
Kat Cheung
Yao Hao
Dr Jamie Soul
Dr Louise Reynard
et al.
microRNA-seq of cartilage reveals an over-abundance of miR-140-3p which contains functional isomiRs2020
Dr Simon Ramsbottom
Professor Peter Thelwall
Dr Katrina Wood
Dr Gavin Clowry
Laura Devlin
et al.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome2020
Dr Elisa Molinari
Dr Simon Ramsbottom
Dr Shalabh Srivastava
Philip Booth
Sumaya Alkanderi
et al.
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts2019
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
Dr 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
Professor Peter Thelwall
et al.
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis2014
Thomas Cunningham
Dr Nicholas Slater
Dr Colin Miles
WT1 regulates murine hematopoiesis via maintenance of VEGF isoform ratio2013
Dr Colin Miles
Biochemical and functional interaction between ZNF224 and ZNF255, two members of the Krüppel-like zinc-finger protein family and WT1 protein isoforms2010
Dr Lorraine Eley
Dr Roslyn Simms
Dr Colin Miles
Professor John Sayer
Development of a Novel Murine Model of Nephronophthisis2009
Dr Anna Wroe
Dr Kathryn White
Dr Colin Miles
WT1TMT396/+ Mice With Murine Denys-Drash Syndrome Have Reduces VEGF165B Protein with Advancing Disease but Normal Levels Prior to the Onset of Disease2009
Professor Mark Walker
Dr Colin Miles
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1 tmT396)2008
Dr Gemma Schofield
Dr Colin Miles
In vitro haematopoietic potential of WT1 null murine ES cells2007
Dr Victor Ruiz-Perez
Dr Helen Blair
Dr Colin Miles
Dr Heiko Peters
Professor Judith Goodship
et al.
Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia2007
Dr Andreas Werner
Dr Colin Miles
Dr Heiko Peters
Expression profiling of antisense transcripts on DNA arrays2007
Dr Lee Spraggon
Dr Colin Miles
hnRNP-U directly interacts with WT1 and modulates WT1 transcriptional activation2007
Dr Colin Miles
Wt1 and retinoic acid signaling are essential for stellate cell development and liver morphogenesis2007
Dr Ralf Kist
Michelle Watson
Paul Cairns
Dr Colin Miles
Dr Don Reid
et al.
Generation of hypomorphic Pax9 mouse mutants as a model for oligodontia in humans2006
Dr Colin Miles
Gonadal effects of a mouse Denys-Drash Syndrome mutation2005
Dr Ralf Kist
Dr Colin Miles
Dr Don Reid
Dr Heiko Peters
Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia2005
Dr Colin Miles
The role of apoptosis in the development of AGM hematopoietic stem cells revealed by Bcl-2 overexpression2004
Dr Colin Miles
Faithful expression of a tagged Fugu WT1 protein from a genomic transgene in zebrafish: efficient splicing of pufferfish genes in zebrafish but not mice2003
Dr Colin Miles
K-ras proto-oncogene exhibits tumor suppressor activity as its absence promotes tumorigenesis in murine teratomas2003
Dr Colin Miles
Dr Lee Spraggon
Mice Lacking the 68-Amino-Acid, Mammal-Specific N-Terminal Extension of WT1 Develop Normally and Are Fertile2003
Dr Colin Miles
Dr Lee Spraggon
Murine Denys-Drash syndrome: Evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis2003
Dr Colin Miles
Truncation of WT1 results in downregulation of cyclin G1 and IGFBP-4 expression2001
Dr Colin Miles
Dr James Doig
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome1999