Article
Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.
JCI insight - 9 Feb 2017
Gorvin Caroline M, Hannan Fadil M, Howles Sarah A, Babinsky Valerie N, Piret Sian E, Rogers Angela, Freidin Andrew J, Stewart Michelle, Paudyal Anju, Hough Tertius A, Nesbit M Andrew, Wells Sara, Vincent Tonia L, Brown Stephen Dm, Cox Roger D, Thakker Rajesh V
Abstract excerpt
Heterozygous germline gain-of-function mutations of G-protein subunit α11 (Gα11), a signaling partner for the calcium-sensing receptor (CaSR), result in autosomal dominant hypocalcemia type 2 (ADH2). ADH2 may cause symptomatic hypocalcemia with low circulating parathyroid hormone (PTH) concentrations. Effective therapies for ADH2 are currently not available, and a mouse model for ADH2 would help in assessment of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
