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
Genetics-guided therapy in neuroendocrine carcinoma: response to BRAF- and MEK-inhibitors.
Falkman L et al.
Upsala Journal of Medical Sciences, 2024
A pediatric case of autosomal dominant hypocalcemia type 2.
Takahashi S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
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
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
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM et al.
Nature Reviews. Endocrinology, 2018
Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.
Roszko KL et al.
Jci Insight, 2017
Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.
Gorvin CM 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
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
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
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
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
Nesbit MA et al.
The New England Journal of Medicine, 2013