Associated Papers
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 role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
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
Misleading localization by 18F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report.
Mukhtar NN et al.
Bmc Endocrine Disorders, 2021
Clinical and Molecular Genetics of Primary Hyperparathyroidism.
Simonds WF
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020
International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.
Leach K et al.
Pharmacological Reviews, 2020
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
Gorvin CM et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.
Marx SJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Insights into calcium-sensing receptor trafficking and biased signalling by studies of calcium homeostasis.
Gorvin CM
Journal of Molecular Endocrinology, 2018
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
Gorvin CM et al.
Science Signaling, 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
N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice.
Gorvin CM et al.
Jbmr Plus, 2017
AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.
Hovden S et al.
European Journal of Endocrinology, 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
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
Ayturk UM et al.
American Journal of Human Genetics, 2016