Loss of the homeostatic protein BPIFA1, leads to exacerbation of otitis media severity in the Junbo mouse model

por Apoorva Mulay, Derek W. Hood, Debbie Williams, Catherine Russell, Steve D. M. Brown, Lynne Bingle, Michael Cheeseman, Colin D. Bingle
Publicado 2018

Reducing Igf-1r levels leads to paradoxical and sexually dimorphic effects in HD mice.

por Silvia Corrochano, Maurizio Renna, Georgina Osborne, Sarah Carter, Michelle Stewart, Joel May, Gillian P Bates, Steve D M Brown, David C Rubinsztein, Abraham Acevedo-Arozena
Publicado 2014

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

por Arnaud P. J. Giese, Yi-Quan Tang, Ghanshyam P. Sinha, Michael R. Bowl, Adam C. Goldring, Andrew Parker, Mary J. Freeman, Steve D. M. Brown, Saima Riazuddin, Robert Fettiplace, William R. Schafer, Gregory I. Frolenkov, Zubair M. Ahmed
Publicado 2017

HIF-VEGF pathways are critical for chronic otitis media in Junbo and Jeff mouse mutants.

por Michael T Cheeseman, Hayley E Tyrer, Debbie Williams, Tertius A Hough, Paras Pathak, Maria R Romero, Helen Hilton, Sulzhan Bali, Andrew Parker, Lucie Vizor, Tom Purnell, Kate Vowell, Sara Wells, Mahmood F Bhutta, Paul K Potter, Steve D M Brown
Publicado 2011

A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.

por Christopher T Esapa, Rosie A Head, Jeshmi Jeyabalan, Holly Evans, Tertius A Hough, Michael T Cheeseman, Eugene G McNally, Andrew J Carr, Gethin P Thomas, Matthew A Brown, Peter I Croucher, Steve D M Brown, Roger D Cox, Rajesh V Thakker
Publicado 2012

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

por Nellie Y Loh, Liz Bentley, Henrik Dimke, Sjoerd Verkaart, Paolo Tammaro, Caroline M Gorvin, Michael J Stechman, Bushra N Ahmad, Fadil M Hannan, Sian E Piret, Holly Evans, Ilaria Bellantuono, Tertius A Hough, William D Fraser, Joost G J Hoenderop, Frances M Ashcroft, Steve D M Brown, René J M Bindels, Roger D Cox, Rajesh V Thakker
Publicado 2013

Prevalence of sexual dimorphism in mammalian phenotypic traits

por Natasha A. Karp, Jeremy Mason, Arthur L. Beaudet, Yoav Benjamini, Lynette Bower, Robert E. Braun, Steve D.M. Brown, Elissa J. Chesler, Mary E. Dickinson, Ann M. Flenniken, Helmut Fuchs, Martin Hrabe de Angelis, Xiang Gao, Shiying Guo, Simon Greenaway, Ruth Heller, Yann Herault, Monica J. Justice, Natalja Kurbatova, Christopher J. Lelliott, K.C. Kent Lloyd, Ann-Marie Mallon, Judith E. Mank, Hiroshi Masuya, Colin McKerlie, Terrence F. Meehan, Richard F. Mott, Stephen A. Murray, Helen Parkinson, Ramiro Ramirez-Solis, Luis Santos, John R. Seavitt, Damian Smedley, Tania Sorg, Anneliese O. Speak, Karen P. Steel, Karen L. Svenson, International Mouse Phenotyping Consortium, Shigeharu Wakana, David West, Sara Wells, Henrik Westerberg, Shay Yaacoby, Jacqueline K. White
Publicado 2017

Human and mouse essentiality screens as a resource for disease gene discovery

por Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bucan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann M. Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih-Wei Hsu, Audrey Christiansen, Denise G. Lanza, Arthur L. Beaudet, Jason D. Heaney, Helmut Fuchs, Valerie Gailus-Durner, Tania Sorg, Jan Prochazka, Vendula Novosadova, Christopher J. Lelliott, Hannah Wardle-Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedlacek, David J. Adams, John R. Seavitt, Glauco Tocchini-Valentini, Fabio Mammano, Robert E. Braun, Colin McKerlie, Yann Herault, Martin Hrabě de Angelis, Ann-Marie Mallon, K. C.  Kent Lloyd, Steve D. M. Brown, Helen Parkinson, Terrence F. Meehan, Damian Smedley, The Genomics England Research Consortium, The International Mouse Phenotyping Consortium
Publicado 2020

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.

por Emma L Duncan, Patrick Danoy, John P Kemp, Paul J Leo, Eugene McCloskey, Geoffrey C Nicholson, Richard Eastell, Richard L Prince, John A Eisman, Graeme Jones, Philip N Sambrook, Ian R Reid, Elaine M Dennison, John Wark, J Brent Richards, Andre G Uitterlinden, Tim D Spector, Chris Esapa, Roger D Cox, Steve D M Brown, Rajesh V Thakker, Kathryn A Addison, Linda A Bradbury, Jacqueline R Center, Cyrus Cooper, Catherine Cremin, Karol Estrada, Dieter Felsenberg, Claus-C Glüer, Johanna Hadler, Margaret J Henry, Albert Hofman, Mark A Kotowicz, Joanna Makovey, Sing C Nguyen, Tuan V Nguyen, Julie A Pasco, Karena Pryce, David M Reid, Fernando Rivadeneira, Christian Roux, Kari Stefansson, Unnur Styrkarsdottir, Gudmar Thorleifsson, Rumbidzai Tichawangana, David M Evans, Matthew A Brown
Publicado 2011

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

por Paul K. Potter, Michael R. Bowl, Prashanthini Jeyarajan, Laura Wisby, Andrew Blease, Michelle E. Goldsworthy, Michelle M. Simon, Simon Greenaway, Vincent Michel, Alun Barnard, Carlos Aguilar, Thomas Agnew, Gareth Banks, Andrew Blake, Lauren Chessum, Joanne Dorning, Sara Falcone, Laurence Goosey, Shelley Harris, Andy Haynes, Ines Heise, Rosie Hillier, Tertius Hough, Angela Hoslin, Marie Hutchison, Ruairidh King, Saumya Kumar, Heena V. Lad, Gemma Law, Robert E. MacLaren, Susan Morse, Thomas Nicol, Andrew Parker, Karen Pickford, Siddharth Sethi, Becky Starbuck, Femke Stelma, Michael Cheeseman, Sally H. Cross, Russell G. Foster, Ian J. Jackson, Stuart N. Peirson, Rajesh V. Thakker, Tonia Vincent, Cheryl Scudamore, Sara Wells, Aziz El-Amraoui, Christine Petit, Abraham Acevedo-Arozena, Patrick M. Nolan, Roger Cox, Anne-Marie Mallon, Steve D. M. Brown
Publicado 2016

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

por Michael R. Bowl, Michelle M. Simon, Neil J. Ingham, Simon Greenaway, Luis Santos, Heather Cater, Sarah Taylor, Jeremy Mason, Natalja Kurbatova, Selina Pearson, Lynette R. Bower, Dave A. Clary, Hamid Meziane, Patrick Reilly, Osamu Minowa, Lois Kelsey, The International Mouse Phenotyping Consortium, Glauco P. Tocchini-Valentini, Xiang Gao, Allan Bradley, William C. Skarnes, Mark Moore, Arthur L. Beaudet, Monica J. Justice, John Seavitt, Mary E. Dickinson, Wolfgang Wurst, Martin Hrabe de Angelis, Yann Herault, Shigeharu Wakana, Lauryl M. J. Nutter, Ann M. Flenniken, Colin McKerlie, Stephen A. Murray, Karen L. Svenson, Robert E. Braun, David B. West, K. C. Kent Lloyd, David J. Adams, Jacqui White, Natasha Karp, Paul Flicek, Damian Smedley, Terrence F. Meehan, Helen E. Parkinson, Lydia M. Teboul, Sara Wells, Karen P. Steel, Ann-Marie Mallon, Steve D. M. Brown
Publicado 2017

Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts

por Bret A. Moore, Brian C. Leonard, Lionel Sebbag, Sydney G. Edwards, Ann Cooper, Denise M. Imai, Ewan Straiton, Luis Santos, Christopher Reilly, Stephen M. Griffey, Lynette Bower, David Clary, Jeremy Mason, Michel J. Roux, Hamid Meziane, Yann Herault, International Mouse Phenotyping Consortium, Colin McKerlie, Ann M. Flenniken, Lauryl M. J. Nutter, Zorana Berberovic, Celeste Owen, Susan Newbigging, Hibret Adissu, Mohammed Eskandarian, Chih-Wei Hsu, Sowmya Kalaga, Uchechukwu Udensi, Chinwe Asomugha, Ritu Bohat, Juan J. Gallegos, John R. Seavitt, Jason D. Heaney, Arthur L. Beaudet, Mary E. Dickinson, Monica J. Justice, Vivek Philip, Vivek Kumar, Karen L. Svenson, Robert E. Braun, Sara Wells, Heather Cater, Michelle Stewart, Sharon Clementson-Mobbs, Russell Joynson, Xiang Gao, Tomohiro Suzuki, Shigeharu Wakana, Damian Smedley, J. K. Seong, Glauco Tocchini-Valentini, Mark Moore, Colin Fletcher, Natasha Karp, Ramiro Ramirez-Solis, Jacqueline K. White, Martin Hrabe de Angelis, Wolfgang Wurst, Sara M. Thomasy, Paul Flicek, Helen Parkinson, Steve D. M. Brown, Terrence F. Meehan, Patsy M. Nishina, Stephen A. Murray, Mark P. Krebs, Ann-Marie Mallon, K. C. Kent Lloyd, Christopher J. Murphy, Ala Moshiri
Publicado 2019