SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. by Jeshmi Jeyabalan, M Andrew Nesbit, Juris Galvanovskis, Richard Callaghan, Patrik Rorsman, Rajesh V Thakker

Get full text

Association studies of calcium-sensing receptor (CaSR) polymorphisms with serum concentrations of glucose and phosphate, and vascular calcification in renal transplant recipients. by Valerie N Babinsky, Fadil M Hannan, Sonia C Youhanna, Céline Maréchal, Michel Jadoul, Olivier Devuyst, Rajesh V Thakker

Get full text

Role of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations. by Chen Zhang, Nagaraju Mulpuri, Fadil M Hannan, M Andrew Nesbit, Rajesh V Thakker, Donald Hamelberg, Edward M Brown, Jenny J Yang

Get full text

Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Sig... by Christopher T Esapa, Sian E Piret, M Andrew Nesbit, Nellie Y Loh, Gethin Thomas, Peter I Croucher, Matthew A Brown, Steve D M Brown, Roger D Cox, Rajesh V Thakker

Get full text

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

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

Get full text

NET Models Meeting 2024 white paper: the current state of neuroendocrine tumour research models and our future aspirations by Po Hien Ear, Ilaria Marinoni, Talya Dayton, Rachael Guenter, Dawn E Quelle, Anna Battistella, Floryne O Buishand, Suganthi Chittaranjan, Yi-Cheih Nancy Du, Ines Marques, Natalia S Pellegata, Samira M Sadowski, Amit Tirosh, Simon April-Monn, Cinzia Aurilia, Renata Jaskula-Sztul, Maria Jesús Baena Moreno, Simone Donati, Katherine A English, Maria Almudena Hernandez Llorens, Harry Hodgetts, Francesca Marini, Maria Martins, Gaia Palmini, Beatriz Soldevilla, Jörg Schrader, Rajesh V Thakker, Kate E Lines

Get full text

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

Get full text