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Gorvin, Caroline M, Stokes, Victoria J, Boon, Hannah, Cranston, Treena, Gluck, Anna K, Bahl, Shailini, Homfray, Tessa, Aung, Theingi, Shine, Brian, Lines, Kate E
et al (show 2 more authors) (2020) Activating Mutations of the G-protein Subunit a 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105 (3). pp. 952-963.


Babinsky, Valerie N, Hannan, Fadil ORCID: 0000-0002-2975-5170, Youhanna, Sonia C, Maréchal, Céline, Jadoul, Michel, Devuyst, Olivier and Thakker, Rajesh V
(2015) Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphisms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients. PLOS ONE, 10 (3). e0119459-.


Hannan, Fadil M ORCID: 0000-0002-2975-5170, Olesen, Mie K ORCID: 0000-0003-0338-5690 and Thakker, Rajesh V
(2018) Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway. BRITISH JOURNAL OF PHARMACOLOGY, 175 (21). pp. 4083-4094.


Gorvin, Caroline M, Frost, Morten, Malinauskas, Tomas, Cranston, Treena, Boon, Hannah, Siebold, Christian, Jones, E Yvonne, Hannan, Fadil M ORCID: 0000-0002-2975-5170 and Thakker, Rajesh V
(2018) Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias. HUMAN MOLECULAR GENETICS, 27 (21). pp. 3720-3733.


Howles, Sarah A, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Gorvin, Caroline M, Piret, Sian E, Paudyal, Anju, Stewart, Michelle, Hough, Tertius A, Nesbit, M Andrew, Wells, Sara, Brown, Stephen DM
et al (show 2 more authors) (2017) Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation. JCI insight, 2 (20). 96540-.


Howles, Sarah A, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Babinsky, Valerie N, Rogers, Angela, Gorvin, Caroline M, Rust, Nigel, Nesbit, M Andrew, Thakker, Rajesh V, Richardson, Tristan and McKenna, Malachi J
(2016) Cinacalcet for Symptomatic Hypercalcemia Caused by <i>AP2S1</i> Mutations. NEW ENGLAND JOURNAL OF MEDICINE, 374 (14). pp. 1396-1398.


Hannan, Fadil M ORCID: 0000-0002-2975-5170, Babinsky, Valerie N and Thakker, Rajesh V
(2016) Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. JOURNAL OF MOLECULAR ENDOCRINOLOGY, 57 (3). R127-R142.


Dershem, Ridge, Gorvin, Caroline M, Metpally, Raghu PR, Krishnamurthy, Sarathbabu, Smelser, Diane T, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Carey, David J, Thakker, Rajesh V and Breitwieser, Gerda E
(2020) Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. AMERICAN JOURNAL OF HUMAN GENETICS, 106 (6). pp. 734-747.


Hannan, Fadil M ORCID: 0000-0002-2975-5170, Newey, Paul J, Whyte, Michael P and Thakker, Rajesh V
(2019) Genetic approaches to metabolic bone diseases. BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, 85 (6). pp. 1147-1160.


Gorvin, Caroline M, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Howles, Sarah A, Babinsky, Valerie N, Piret, Sian E, Rogers, Angela, Freidin, Andrew J, Stewart, Michelle, Paudyal, Anju, Hough, Tertius A
et al (show 6 more authors) (2017) Gα<sub>11</sub> mutation in mice causes hypocalcemia rectifiable by calcilytic therapy. JCI INSIGHT, 2 (3). e91103-.


Stokes, Victoria J, Nielsen, Morten F, Hannan, Fadil M ORCID: 0000-0002-2975-5170 and Thakker, Rajesh V
(2017) Hypercalcemic Disorders in Children. JOURNAL OF BONE AND MINERAL RESEARCH, 32 (11). pp. 2157-2170.


Mannstadt, Michael, Bilezikian, John P, Thakker, Rajesh V, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Clarke, Bart L, Reijnmark, Lars, Mitchell, Deborah M, Vokes, Tamara J, Winer, Karen K and Shoback, Dolores M
(2017) Hypoparathyroidism. NATURE REVIEWS DISEASE PRIMERS, 3 (1). 17055-.


Gorvin, Caroline M, Metpally, Raghu, Stokes, Victoria J, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Krishnamurthy, Sarath B, Overton, John D, Reid, Jeffrey G, Breitwieser, Gerda E and Thakker, Rajesh V
(2018) Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling. HUMAN MOLECULAR GENETICS, 27 (5). pp. 901-911.


Gorvin, Caroline M, Loh, Nellie Y, Stechman, Michael J, Falcone, Sara, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Ahmad, Bushra N, Piret, Sian E, Reed, Anita AC, Jeyabalan, Jeshmi, Leo, Paul
et al (show 17 more authors) (2019) Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis. JOURNAL OF BONE AND MINERAL RESEARCH, 34 (7). pp. 1324-1335.


Esapa, Christopher T, Hannan, Fadil ORCID: 0000-0002-2975-5170, Babinsky, Valerie N, Potter, Paul, Thomas, Gethin P, Croucher, Peter I, Brown, Matthew A, Brown, Steve DM, Cox, Roger D and Thakker, Rajesh V
(2015) N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. PloS ONE, 10 (4). e0122650-.


Dharmaraj, Poonam, Gorvin, Caroline M, Soni, Astha, Nelhans, Nick D, Olesen, Mie K ORCID: 0000-0003-0338-5690, Boon, Hannah, Cranston, Treena, Thakker, Rajesh V and Hannan, Fadil M ORCID: 0000-0002-2975-5170
(2020) Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1). JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105 (5). dgaa111-.


Potter, Paul K, Bowl, Michael R, Jeyarajan, Prashanthini, Wisby, Laura, Blease, Andrew, Goldsworthy, Michelle E, Simon, Michelle M, Greenaway, Simon, Michel, Vincent, Barnard, Alun
et al (show 43 more authors) (2016) Novel gene function revealed by mouse mutagenesis screens for models of age-related disease. NATURE COMMUNICATIONS, 7 (1). 12444-.


Zhang, Chen, Mulpuri, Nagaraju, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Nesbit, M Andrew, Thakker, Rajesh V, Hamelberg, Donald, Brown, Edward M and Yang, Jenny J
(2014) Role of Ca2+ and L-Phe in Regulating Functional Cooperativity of Disease-Associated "Toggle" Calcium-Sensing Receptor Mutations. PLoS ONE, 9 (11). e113622-.


Hannan, Fadil M ORCID: 0000-0002-2975-5170, Kallay, Enikoe, Chang, Wenhan, Brandi, Maria Luisa and Thakker, Rajesh V
(2018) The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases. NATURE REVIEWS ENDOCRINOLOGY, 15 (1). pp. 33-51.


Gorvin, Caroline M, Babinsky, Valerie N, Malinauskas, Tomas, Nissen, Peter H, Schou, Anders J, Hanyaloglu, Aylin C, Siebold, Christian, Jones, E Yvonne, Hannan, Fadil M ORCID: 0000-0002-2975-5170 and Thakker, Rajesh V
(2018) A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate beta-arrestin-biased signaling. SCIENCE SIGNALING, 11 (518). eaan3714-.

This list was generated on Sun Feb 4 13:42:49 2024 GMT.