SAT-036 Extracellular Domain Calcium-Sensing Receptor (CaSR) Mutations Leading to Hypercalcemic and Hypocalcemic Disorders Cluster at the Homodimeric Interface

Por Olesen, Mie, Gorvin, Caroline, Thakker, Rajesh, Hannan, Fadil
Publicado no J Endocr Soc (2019)

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis

Por Hannan, Fadil M, Babinsky, Valerie N, Thakker, Rajesh V
Publicado no J Mol Endocrinol (2016)

Calcimimetic and calcilytic therapies for inherited disorders of the calcium‐sensing receptor signalling pathway

Por Hannan, Fadil M, Olesen, Mie K, Thakker, Rajesh V
Publicado no Br J Pharmacol (2017)

Hypercalcemic Disorders in Children

Por Stokes, Victoria J, Nielsen, Morten F, Hannan, Fadil M, Thakker, Rajesh V
Publicado no J Bone Miner Res (2017)

Genetic approaches to metabolic bone diseases

Por Hannan, Fadil M., Newey, Paul J., Whyte, Michael P., Thakker, Rajesh V.
Publicado no Br J Clin Pharmacol (2018)

OR30-5 Germline Ablation of G-Protein Subunit Alpha-11 in Mice Causes Hypercalcemia That Is Rectified by Treatment with Cinacalcet

Por Hannan, Fadil, Olesen, Mie, Hough, Tertius, Stewart, Michelle, Wells, Sara, Thakker, Rajesh
Publicado no J Endocr Soc (2019)

Calcium-sensing receptor in physiology and in calcitropic and non-calcitropic diseases

Por Hannan, Fadil M., Kallay, Enikö, Chang, Wenhan, Brandi, Maria Luisa, Thakker, Rajesh V.
Publicado no Nat Rev Endocrinol (2018)

Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphisms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients

Por Babinsky, Valerie N., Hannan, Fadil M., Youhanna, Sonia C., Maréchal, Céline, Jadoul, Michel, Devuyst, Olivier, Thakker, Rajesh V.
Publicado no PLoS One (2015)

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

Por Gorvin, Caroline M, Cranston, Treena, Hannan, Fadil M, Rust, Nigel, Qureshi, Asjid, Nesbit, M Andrew, Thakker, Rajesh V
Publicado no J Bone Miner Res (2016)

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation

Por Gorvin, Caroline M, Hannan, Fadil M, Cranston, Treena, Valta, Helena, Makitie, Outi, Schalin‐Jantti, Camilla, Thakker, Rajesh V
Publicado no J Bone Miner Res (2017)

MON-539 Mice Harboring a Germline Heterozygous AP2S1 Mutation, Arg15Leu, Are a Model for Familial Hypocalciuric Hypercalcemia Type 3 (FHH3)

Por Hannan, Fadil, Stokes, Victoria, Gorvin, Caroline, Hough, Tertius, Codner, Gemma, Stewart, Michelle, Wells, Sara, Teboul, Lydia, Thakker, Rajesh
Publicado no J Endocr Soc (2019)

Role of Ca(2+) and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations

Por Zhang, Chen, Mulpuri, Nagaraju, Hannan, Fadil M., Nesbit, M. Andrew, Thakker, Rajesh V., Hamelberg, Donald, Brown, Edward M., Yang, Jenny J.
Publicado no PLoS One (2014)

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias

Por Gorvin, Caroline M, Frost, Morten, Malinauskas, Tomas, Cranston, Treena, Boon, Hannah, Siebold, Christian, Jones, E Yvonne, Hannan, Fadil M, Thakker, Rajesh V
Publicado no Hum Mol Genet (2018)

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences:...

Por Hannan, Fadil M, Nesbit, M Andrew, Turner, Jeremy J O, Stacey, Joanna M, Cianferotti, Luisella, Christie, Paul T, Conigrave, Arthur D, Whyte, Michael P, Thakker, Rajesh V
Publicado em 2010

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...

Por Gorvin, Caroline M, Metpally, Raghu, Stokes, Victoria J, Hannan, Fadil M, Krishnamurthy, Sarath B, Overton, John D, Reid, Jeffrey G, Breitwieser, Gerda E, Thakker, Rajesh V
Publicado no Hum Mol Genet (2018)

Mutations Affecting G-Protein Subunit α(11) in Hypercalcemia and Hypocalcemia

Por Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Babinsky, Valerie N., Head, Rosie A., Cranston, Treena, Rust, Nigel, Hobbs, Maurine R., Heath, Hunter, Thakker, Rajesh V.
Publicado em 2013

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

Por 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.
Publicado no J Biol Chem (2016)

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations

Por Howles, Sarah A., Hannan, Fadil M., Babinsky, Valerie N., Rogers, Angela, Gorvin, Caroline M., Rust, Nigel, Richardson, Tristan, McKenna, Malachi J., Nesbit, M. Andrew, Thakker, Rajesh V.
Publicado no N Engl J Med (2016)

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin biased signaling

Por 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., Thakker, Rajesh V.
Publicado no Sci Signal (2018)

N-ethyl-N-Nitrosourea (ENU) Induced Mutations within the Klotho Gene Lead to Ectopic Calcification and Reduced Lifespan in Mouse Models

Por Esapa, Christopher T., Hannan, Fadil M., Babinsky, Valerie N., Potter, Paul, Thomas, Gethin P., Croucher, Peter I., Brown, Matthew A., Brown, Steve D. M., Cox, Roger D., Thakker, Rajesh V.
Publicado no PLoS One (2015)