Caroline Dalgliesh Saad Aldalaqan Christian Atallah Dr Andrew Best Dr Emma Scott et al. | An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division | 2025 |
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Parmveer Singh Hannah Kendall Laura Wilson Ryan Long Dr Adriana Buskin et al. | Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues | 2023 |
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Laura Devlin Miguel Barroso Gil Ruxandra Neatu Laura Powell Dr Emanuela Molinari et al. | Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome | 2022 |
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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 mutations | 2022 |
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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 families | 2021 |
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Dan Hayman Dr Tamara Modebadze Sarah Charlton Kat Cheung Dr Jamie Soul et al. | Increased hippocampal excitability in miR-324-null mice | 2021 |
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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 therapies | 2021 |
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Laura Devlin Dr Simon Ramsbottom Lynne Overman Dr Steven Lisgo Dr Gavin Clowry et al. | Embryonic and foetal expression patterns of the ciliopathy gene CEP164 | 2020 |
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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 development | 2020 |
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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 isomiRs | 2020 |
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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 syndrome | 2020 |
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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 fibroblasts | 2019 |
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Sumaya Alkanderi Dr Elisa Molinari Veronica Sammut Dr Simon Ramsbottom Dr Shalabh Srivastava et al. | ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition | 2018 |
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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 variants | 2018 |
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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 model | 2018 |
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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 model | 2018 |
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Dr Shalabh Srivastava Dr Simon Ramsbottom Dr Elisa Molinari Sumaya Alkanderi Professor Andrew Filby et al. | A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies | 2017 |
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Dr Ann Marie Hynes Dr Shalabh Srivastava Dr Colin Miles Professor John Sayer
| DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome | 2015 |
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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 alleles | 2015 |
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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 line | 2015 |
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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 phenotype | 2014 |
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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 nephronophthisis | 2014 |
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Thomas Cunningham Dr Nicholas Slater Dr Colin Miles
| WT1 regulates murine hematopoiesis via maintenance of VEGF isoform ratio | 2013 |
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Dr Colin Miles
| Biochemical and functional interaction between ZNF224 and ZNF255, two members of the Krüppel-like zinc-finger protein family and WT1 protein isoforms | 2010 |
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Dr Lorraine Eley Dr Roslyn Simms Dr Colin Miles Professor John Sayer
| Development of a Novel Murine Model of Nephronophthisis | 2009 |
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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 Disease | 2009 |
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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 |
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Dr Gemma Schofield Dr Colin Miles
| In vitro haematopoietic potential of WT1 null murine ES cells | 2007 |
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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 cilia | 2007 |
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Dr Andreas Werner Dr Colin Miles Dr Heiko Peters
| Expression profiling of antisense transcripts on DNA arrays | 2007 |
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Dr Lee Spraggon Dr Colin Miles
| hnRNP-U directly interacts with WT1 and modulates WT1 transcriptional activation | 2007 |
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Dr Colin Miles
| Wt1 and retinoic acid signaling are essential for stellate cell development and liver morphogenesis | 2007 |
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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 humans | 2006 |
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Dr Colin Miles
| Gonadal effects of a mouse Denys-Drash Syndrome mutation | 2005 |
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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 oligodontia | 2005 |
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Dr Colin Miles
| The role of apoptosis in the development of AGM hematopoietic stem cells revealed by Bcl-2 overexpression | 2004 |
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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 mice | 2003 |
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Dr Colin Miles
| K-ras proto-oncogene exhibits tumor suppressor activity as its absence promotes tumorigenesis in murine teratomas | 2003 |
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Dr Colin Miles Dr Lee Spraggon
| Mice Lacking the 68-Amino-Acid, Mammal-Specific N-Terminal Extension of WT1 Develop Normally and Are Fertile | 2003 |
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Dr Colin Miles Dr Lee Spraggon
| Murine Denys-Drash syndrome: Evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis | 2003 |
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Dr Colin Miles
| Truncation of WT1 results in downregulation of cyclin G1 and IGFBP-4 expression | 2001 |
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Dr Colin Miles Dr James Doig
| A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome | 1999 |
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