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
A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father - A case report.
Koca SB et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2025
Familial states of primary hyperparathyroidism: an update.
Cetani F et al.
Journal of Endocrinological Investigation, 2024
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
International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.
Leach K et al.
Pharmacological Reviews, 2020
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
Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism.
Vannucci L et al.
Frontiers of Hormone Research, 2019
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM et al.
Nature Reviews. Endocrinology, 2018
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation.
Gorvin CM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018
Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.
Howles SA et al.
Jci Insight, 2017
Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
Hannan FM et al.
Journal of Molecular Endocrinology, 2016
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
Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
Babinsky VN et al.
The Journal of Biological Chemistry, 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