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 Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.
Kwon EJ et al.
Annals of Clinical and Laboratory Science, 2022
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
International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.
Leach K et al.
Pharmacological Reviews, 2020
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