Hypercalcemic Disorders in Children

por Stokes, Victoria J, Nielsen, Morten F, Hannan, Fadil M, Thakker, Rajesh V
Publicado 2017

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 2018

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2

por Hannan, Fadil M, Stevenson, Mark, Bayliss, Asha L, Stokes, Victoria J, Stewart, Michelle, Kooblall, Kreepa G, Gorvin, Caroline M, Codner, Gemma, Teboul, Lydia, Wells, Sara, Thakker, Rajesh V
Publicado 2021

Activating Mutations of the G-protein Subunit α (11) Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2

por Gorvin, Caroline M, Stokes, Victoria J, Boon, Hannah, Cranston, Treena, Glück, Anna K, Bahl, Shailini, Homfray, Tessa, Aung, Theingi, Shine, Brian, Lines, Kate E, Hannan, Fadil M, Thakker, Rajesh V
Publicado 2019

Control of PTH secretion by the TRPC1 ion channel

por Onopiuk, Marta, Eby, Bonnie, Nesin, Vasyl, Ngo, Peter, Lerner, Megan, Gorvin, Caroline M., Stokes, Victoria J., Thakker, Rajesh V., Brandi, Maria Luisa, Chang, Wenhan, Humphrey, Mary Beth, Tsiokas, Leonidas, Lau, Kai
Publicado 2020

miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2

por Kooblall, Kreepa G, Stokes, Victoria J, Shariq, Omair A, English, Katherine A, Stevenson, Mark, Broxholme, John, Wright, Benjamin, Lockstone, Helen E, Buck, David, Grozinsky-Glasberg, Simona, Yates, Christopher J, Thakker, Rajesh V, Lines, Kate E
Publicado 2022