Associated Papers
Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.
Katanaev VL et al.
Embo Molecular Medicine, 2025
Loss-of-function Thr347Ala Variant in the G Protein Subunit-Α11 Causes Familial Hypocalciuric Hypercalcemia 2.
Boisen IM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetics of hereditary forms of primary hyperparathyroidism.
English KA et al.
Hormones (athens, Greece), 2024
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Howles SA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.
Papadopoulou A et al.
Genes, 2021
Rare diseases caused by abnormal calcium sensing and signalling.
Tőke J et al.
Endocrine, 2021
Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature.
Forman TE et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM et al.
Nature Reviews. Endocrinology, 2018
Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.
Howles SA et al.
Jci Insight, 2017
A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
Gorvin CM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B et al.
European Journal of Endocrinology, 2016
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
Nesbit MA et al.
The New England Journal of Medicine, 2013