Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3.
Kołbuc M et al.
Pediatric Nephrology (berlin, Germany), 2026
Congenital primary hyperparathyroidism.
Marini F et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2025
Heritable hyperparathyroidism: Genetic insights and clinical implications.
Grover A et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2025
Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu).
Chida A et al.
Case Reports in Endocrinology, 2025
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.
Goldsweig B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Familial states of primary hyperparathyroidism: an update.
Cetani F et al.
Journal of Endocrinological Investigation, 2024
Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia.
Asla Q et al.
Endocrine, 2024
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A et al.
Frontiers in Endocrinology, 2024
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
Hannan FM et al.
Human Molecular Genetics, 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
Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation.
Kerut S et al.
Bmj Case Reports, 2020
International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.
Leach K et al.
Pharmacological Reviews, 2020
Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His.
Aashiq M et al.
Case Reports in Pediatrics, 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
A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation.
Wong FCK et al.
F1000research, 2019
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM et al.
Nature Reviews. Endocrinology, 2018
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
Gorvin CM et al.
Human Molecular Genetics, 2018
AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity.
Gorvin CM et al.
Cell Reports, 2018
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
Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.
Szalat A et al.
Endocrine, 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
Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3.
Hovden S et al.
Clinical Case Reports, 2016
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.
Howles SA et al.
The New England Journal of Medicine, 2016
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM et al.
Human Molecular Genetics, 2015
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.
Tenhola S et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
Hendy GN et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria.
Fujisawa Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
Hendy GN et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Nesbit MA et al.
Nature Genetics, 2013