Associated Papers
Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.
Katanaev VL et al.
Embo Molecular Medicine, 2025
An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.
Benson MR et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
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 calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM et al.
Nature Reviews. Endocrinology, 2018
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
Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.
Tenhola S et al.
European Journal of Endocrinology, 2016
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
Piret SE et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2.
Roszko KL et al.
Frontiers in Physiology, 2016
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
Li D et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Germline mutations affecting Gα11 in hypoparathyroidism.
Mannstadt M et al.
The New England Journal of Medicine, 2013