A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

by Gorvin, Caroline M, Cranston, Treena, Hannan, Fadil M, Rust, Nigel, Qureshi, Asjid, Nesbit, M Andrew, Thakker, Rajesh V
Published 2016

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders*

by Babinsky, Valerie N., Hannan, Fadil M., Gorvin, Caroline M., Howles, Sarah A., Nesbit, M. Andrew, Rust, Nigel, Hanyaloglu, Aylin C., Hu, Jianxin, Spiegel, Allen M., Thakker, Rajesh V.
Published 2016

Role of Ca2+ and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations

by Zhang, Chen, Mulpuri, Nagaraju, Hannan, Fadil M., Nesbit, M. Andrew, Thakker, Rajesh V., Hamelberg, Donald, Brown, Edward M., Yang, Jenny J.
Published 2014

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type...

by Hannan, Fadil M., Walls, Gerard V., Babinsky, Valerie N., Nesbit, M. Andrew, Kallay, Enikö, Hough, Tertius A., Fraser, William D., Cox, Roger D., Hu, Jianxin, Spiegel, Allen M., Thakker, Rajesh V.
Published 2015

Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

by Piret, Sian E, Gorvin, Caroline M, Pagnamenta, Alistair T, Howles, Sarah A, Cranston, Treena, Rust, Nigel, Nesbit, M Andrew, Glaser, Ben, Taylor, Jenny C, Buchs, Andreas E, Hannan, Fadil M, Thakker, Rajesh V
Published 2016

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 Esapa, Christopher T., Piret, Sian E., Nesbit, M. Andrew, Loh, Nellie Y., Thomas, Gethin, Croucher, Peter I., Brown, Matthew A., Brown, Steve D. M., Cox, Roger D., Thakker, Rajesh V.
Published 2016

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

by Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Reed, Anita A.C., Cranston, Treena, Thakker, Clare E., Gregory, Lorna, Rimmer, Andrew J., Rust, Nigel, Graham, Una, Morrison, Patrick J., Hunter, Steven J., Whyte, Michael P., McVean, Gil, Buck, David, Thakker, Rajesh V.
Published 2012

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy

by Allen, Edwin H.A., Courtney, David G., Atkinson, Sarah D., Moore, Johnny E., Mairs, Laura, Poulsen, Ebbe Toftgaard, Schiroli, Davide, Maurizi, Eleonora, Cole, Christian, Hickerson, Robyn P., James, John, Murgatroyd, Helen, Smith, Frances J.D., MacEwen, Carrie, Enghild, Jan J., Nesbit, M. Andrew, Leslie Pedrioli, Deena M., McLean, W.H. Irwin, Moore, C.B. Tara
Published 2016

An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess

by Bentley, Liz, Esapa, Christopher T., Nesbit, M. Andrew, Head, Rosie A., Evans, Holly, Lath, Darren, Scudamore, Cheryl L., Hough, Tertius A., Podrini, Christine, Hannan, Fadil M., Fraser, William D., Croucher, Peter I., Brown, Matthew A., Brown, Steve D. M., Cox, Roger D., Thakker, Rajesh V.
Published 2014

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative...

by Hannan, Fadil M., Howles, Sarah A., Rogers, Angela, Cranston, Treena, Gorvin, Caroline M., Babinsky, Valerie N., Reed, Anita A., Thakker, Clare E., Bockenhauer, Detlef, Brown, Rosalind S., Connell, John M., Cook, Jacqueline, Darzy, Ken, Ehtisham, Sarah, Graham, Una, Hulse, Tony, Hunter, Steven J., Izatt, Louise, Kumar, Dhavendra, McKenna, Malachi J., McKnight, John A., Morrison, Patrick J., Mughal, M. Zulf, O'Halloran, Domhnall, Pearce, Simon H., Porteous, Mary E., Rahman, Mushtaqur, Richardson, Tristan, Robinson, Robert, Scheers, Isabelle, Siddique, Haroon, van't Hoff, William G., Wang, Timothy, Whyte, Michael P., Nesbit, M. Andrew, Thakker, Rajesh V.
Published 2015

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

by Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Published 2015