Publications by authors named "Colin Miles"

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Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.
Praveen Dhondurao Sudhindar, Sarah E Orr, Eve Miller-Hodges, Elisa Molinari, Katrina Wood, Colin G Miles

Clin Sci (Lond)· July 2025

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An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division.
Caroline Dalgliesh, Saad Aldalaqan, Christian Atallah, Andrew Best, Emma Scott, Colin Miles

EMBO J· February 2025

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Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues.
Parmveer Singh, Nadia A Lanman, Hannah L R Kendall, Laura Wilson, Ryan Long, Colin G Miles

Development· July 2023

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Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Laura A Devlin, Janice Coles, Claire L Jackson, Miguel Barroso-Gil, Ben Green, Colin G Miles

Clin Genet· March 2023

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Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
John Devane, Elisabeth Ott, Eric G Olinger, Daniel Epting, Eva Decker, Colin G Miles

Am J Hum Genet· May 2022

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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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A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Eric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, Isa Al Salmi, Elisa Molinari, Colin Miles

Hum Mutat· October 2021

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Increased hippocampal excitability in miR-324-null mice.
Dan J Hayman, Tamara Modebadze, Sarah Charlton, Kat Cheung, Jamie Soul, Colin G Miles

Sci Rep· May 2021

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microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs.
Steven Woods, Sarah Charlton, Kat Cheung, Yao Hao, Jamie Soul, Colin G Miles

RNA· November 2020

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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, Colin G Miles

Proc Natl Acad Sci U S A· January 2020

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Population pharmacokinetics and exposure-overall survival analysis of the transforming growth factor-β inhibitor galunisertib in patients with pancreatic cancer.
Ivelina Gueorguieva, Josep Tabernero, Davide Melisi, Teresa Macarulla, Valeria Merz, Colin Miles

Cancer Chemother Pharmacol· November 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, Colin G Miles

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, Colin G Miles

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, Colin G Miles

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, Colin G Miles

Am J Hum Genet· October 2018

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Disposition and metabolism of [C]-galunisertib, a TGF-βRI kinase/ALK5 inhibitor, following oral administration in healthy subjects and mechanistic prediction of the effect of itraconazole on galunisertib pharmacokinetics.
Kenneth C Cassidy, Ivelina Gueorguieva, Colin Miles, Jessica Rehmel, Ping Yi

Xenobiotica· April 2018

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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, Colin G Miles

Hum Mol Genet· December 2017

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Biomarker and Histopathology Evaluation of Patients with Recurrent Glioblastoma Treated with Galunisertib, Lomustine, or the Combination of Galunisertib and Lomustine.
David Capper, Andreas von Deimling, Alba A Brandes, Antoine F Carpentier, Santosh Kesari, Colin Miles

Int J Mol Sci· May 2017

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Relative bioavailability of three formulations of galunisertib administered as monotherapy in patients with advanced or metastatic cancer.
Ivelina Gueorguieva, Ann Cleverly, Durisala Desaiah, Analia Azaro, Joan Seoane, Colin Miles

Drugs Context· December 2016

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A Phase II randomized study of galunisertib monotherapy or galunisertib plus lomustine compared with lomustine monotherapy in patients with recurrent glioblastoma.
Alba A Brandes, Antoine F Carpentier, Santosh Kesari, Juan M Sepulveda-Sanchez, Helen R Wheeler, Colin Miles

Neuro Oncol· August 2016

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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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DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
Gisela G Slaats, Joshua C Saldivar, Julien Bacal, Michelle K Zeman, Andrew C Kile, Colin Miles

J Clin Invest· September 2015

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Dietary restriction ameliorates haematopoietic ageing independent of telomerase, whilst lack of telomerase and short telomeres exacerbates the ageing phenotype.
Nouf Al-Ajmi, Gabriele Saretzki, Colin Miles, Ioakim Spyridopoulos

Exp Gerontol· October 2014

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Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.
Ann Marie Hynes, Rachel H Giles, Shalabh Srivastava, Lorraine Eley, Jennifer Whitehead, Colin G Miles

Proc Natl Acad Sci U S A· July 2014

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Defining a therapeutic window for the novel TGF-β inhibitor LY2157299 monohydrate based on a pharmacokinetic/pharmacodynamic model.
Ivelina Gueorguieva, Ann L Cleverly, Anja Stauber, N Sada Pillay, Jordi A Rodon, Colin P Miles

Br J Clin Pharmacol· May 2014

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