N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. by Christopher T Esapa, Fadil M Hannan, Valerie N Babinsky, Paul Potter, Gethin P Thomas, Peter I Croucher, Matthew A Brown, Steve D M Brown, Roger D Cox, Rajesh V Thakker

Get full text

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation. by Sian E Piret, Christopher T Esapa, Caroline M Gorvin, Rosie Head, Nellie Y Loh, Olivier Devuyst, Gethin Thomas, Steve D M Brown, Matthew Brown, Peter Croucher, Roger Cox, Rajesh V Thakker

Get full text

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies by Christopher T. Esapa, R. A. Jeffrey McIlhinney, Adrian J. Waite, Matthew A. Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C. Walter, Hanns Lochmüller, Pierre J. Rizkallah, Qi L. Lu, Derek J. Blake

Get full text

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

Get full text

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function by Lucy A Dunbar, Pranav Patni, Carlos Aguilar, Philomena Mburu, Laura Corns, Helena RR Wells, Sedigheh Delmaghani, Andrew Parker, Stuart Johnson, Debbie Williams, Christopher T Esapa, Michelle M Simon, Lauren Chessum, Sherylanne Newton, Joanne Dorning, Prashanthini Jeyarajan, Susan Morse, Andrea Lelli, Gemma F Codner, Thibault Peineau, Suhasini R Gopal, Kumar N Alagramam, Ronna Hertzano, Didier Dulon, Sara Wells, Frances M Williams, Christine Petit, Sally J Dawson, Steve DM Brown, Walter Marcotti, Aziz El‐Amraoui, Michael R Bowl

Get full text