Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles

по Ramsbottom, Simon, Miles, Colin, Sayer, John
Опубликовано в: F1000Res (2015)

TC-2559 excites dopaminergic neurones in the ventral tegmental area by stimulating α4β2-like nicotinic acetylcholine receptors in anaesthetised rats

по Wang, Yun, Sherwood, John L, Miles, Colin P, Whiffin, Gary, Lodge, David
Опубликовано 2006

Complete sequencing of the Fugu WAGR region from WT1 to PAX6: Dramatic compaction and conservation of synteny with human chromosome 11p13

по Miles, Colin, Elgar, Greg, Coles, Edward, Kleinjan, Dirk-Jan, van Heyningen, Veronica, Hastie, Nicholas
Опубликовано 1998

Mice Lacking the 68-Amino-Acid, Mammal-Specific N-Terminal Extension of WT1 Develop Normally and Are Fertile

по Miles, Colin G., Slight, Joan, Spraggon, Lee, O'Sullivan, Maureen, Patek, Charles, Hastie, Nicholas D.
Опубликовано 2003

Faithful expression of a tagged Fugu WT1 protein from a genomic transgene in zebrafish: efficient splicing of pufferfish genes in zebrafish but not mice

по Miles, Colin G., Rankin, Lesley, Smith, Shirley I., Niksic, Martina, Elgar, Greg, Hastie, Nicholas D.
Опубликовано 2003

Defining a therapeutic window for the novel TGF-β inhibitor LY2157299 monohydrate based on a pharmacokinetic/pharmacodynamic model

по Gueorguieva, Ivelina, Cleverly, Ann L, Stauber, Anja, Pillay, N Sada, Rodon, Jordi A, Miles, Colin P, Yingling, Jonathan M, Lahn, Michael M
Опубликовано 2014

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

по Srivastava, Shalabh, Ramsbottom, Simon A, Molinari, Elisa, Alkanderi, Sumaya, Filby, Andrew, White, Kathryn, Henry, Charline, Saunier, Sophie, Miles, Colin G, Sayer, John A
Опубликовано в: Hum Mol Genet (2017)

Relative bioavailability of three formulations of galunisertib administered as monotherapy in patients with advanced or metastatic cancer

по Gueorguieva, Ivelina, Cleverly, Ann, Desaiah, Durisala, Azaro, Analia, Seoane, Joan, Braña, Irene, Sicart, Elisabet, Miles, Colin, Lahn, Michael M, Mitchell, Malcolm I, Rodon, Jordi
Опубликовано в: Drugs Context (2016)

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

по Ramsbottom, Simon A., Molinari, Elisa, Srivastava, Shalabh, Silberman, Flora, Henry, Charline, Alkanderi, Sumaya, Devlin, Laura A., White, Kathryn, Steel, David H., Saunier, Sophie, Miles, Colin G., Sayer, John A.
Опубликовано в: Proc Natl Acad Sci U S A (2018)

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

по Molinari, Elisa, Ramsbottom, Simon A., Srivastava, Shalabh, Booth, Philip, Alkanderi, Sumaya, McLafferty, Seamus M., Devlin, Laura A., White, Kathryn, Gunay-Aygun, Meral, Miles, Colin G., Sayer, John A.
Опубликовано в: Sci Rep (2019)

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

по Molinari, Elisa, Decker, Eva, Mabillard, Holly, Tellez, James, Srivastava, Shalabh, Raman, Shreya, Wood, Katrina, Kempf, Caroline, Alkanderi, Sumaya, Ramsbottom, Simon A., Miles, Colin G., Johnson, Colin A., Hildebrandt, Friedhelm, Bergmann, Carsten, Sayer, John A.
Опубликовано в: Eur J Hum Genet (2018)

A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys–Drash syndrome

по Patek, Charles E., Little, Melissa H., Fleming, Stewart, Miles, Colin, Charlieu, Jean-Paul, Clarke, Alan R., Miyagawa, Kiyoshi, Christie, Sheila, Doig, Jennifer, Harrison, David J., Porteous, David J., Brookes, Anthony J., Hooper, Martin L., Hastie, Nicholas D.
Опубликовано 1999

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

по Hynes, Ann Marie, Giles, Rachel H., Srivastava, Shalabh, Eley, Lorraine, Whitehead, Jennifer, Danilenko, Marina, Raman, Shreya, Slaats, Gisela G., Colville, John G., Ajzenberg, Henry, Kroes, Hester Y., Thelwall, Peter E., Simmons, Nicholas L., Miles, Colin G., Sayer, John A.
Опубликовано 2014

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

по Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.
Опубликовано в: Proc Natl Acad Sci U S A (2020)

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

по Slaats, Gisela G., Saldivar, Joshua C., Bacal, Julien, Zeman, Michelle K., Kile, Andrew C., Hynes, Ann Marie, Srivastava, Shalabh, Nazmutdinova, Jekaterina, den Ouden, Krista, Zagers, Miriam S., Foletto, Veronica, Verhaar, Marianne C., Miles, Colin, Sayer, John A., Cimprich, Karlene A., Giles, Rachel H.
Опубликовано в: J Clin Invest (2015)

microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs

по Woods, Steven, Charlton, Sarah, Cheung, Kat, Hao, Yao, Soul, Jamie, Reynard, Louise N., Crowe, Natalie, Swingler, Tracey E., Skelton, Andrew J., Piróg, Katarzyna A., Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Dalmay, Tamas, Clark, Ian M., Barter, Matt J., Young, David A.
Опубликовано в: RNA (2020)

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

по Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.
Опубликовано в: Am J Hum Genet (2018)

A Phase II randomized study of galunisertib monotherapy or galunisertib plus lomustine compared with lomustine monotherapy in patients with recurrent glioblastoma

по Brandes, Alba A., Carpentier, Antoine F., Kesari, Santosh, Sepulveda-Sanchez, Juan M., Wheeler, Helen R., Chinot, Olivier, Cher, Lawrence, Steinbach, Joachim P., Capper, David, Specenier, Pol, Rodon, Jordi, Cleverly, Ann, Smith, Claire, Gueorguieva, Ivelina, Miles, Colin, Guba, Susan C., Desaiah, Durisala, Lahn, Michael M., Wick, Wolfgang
Опубликовано в: Neuro Oncol (2016)

Increased hippocampal excitability in miR-324-null mice

по Hayman, Dan J., Modebadze, Tamara, Charlton, Sarah, Cheung, Kat, Soul, Jamie, Lin, Hua, Hao, Yao, Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Briggs, Michael D., Piróg, Katarzyna A., Clark, Ian M., Barter, Matt J., Clowry, Gavin J., LeBeau, Fiona E. N., Young, David A.
Опубликовано в: Sci Rep (2021)

Biomarker and Histopathology Evaluation of Patients with Recurrent Glioblastoma Treated with Galunisertib, Lomustine, or the Combination of Galunisertib and Lomustine

по Capper, David, von Deimling, Andreas, Brandes, Alba A., Carpentier, Antoine F., Kesari, Santosh, Sepulveda-Sanchez, Juan M., Wheeler, Helen R., Chinot, Olivier, Cher, Lawrence, Steinbach, Joachim P., Specenier, Pol, Rodon, Jordi, Cleverly, Ann, Smith, Claire, Gueorguieva, Ivelina, Miles, Colin, Guba, Susan C., Desaiah, Durisala, Estrem, Shawn T., Lahn, Michael M., Wick, Wolfgang
Опубликовано в: Int J Mol Sci (2017)