Detalhe da pesquisa
1.
Asymmetric activation of the calcium-sensing receptor homodimer.
Nature
; 595(7867): 455-459, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194040
2.
Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.
J Am Soc Nephrol
; 34(12): 1991-2011, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37787550
3.
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
Hum Mol Genet
; 30(10): 880-892, 2021 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729479
4.
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Am J Hum Genet
; 106(6): 734-747, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386559
5.
Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
J Pediatr
; 257: 113367, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868303
6.
International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.
Pharmacol Rev
; 72(3): 558-604, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467152
7.
Genetics of monogenic disorders of calcium and bone metabolism.
Clin Endocrinol (Oxf)
; 97(4): 483-501, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34935164
8.
Reference interval for albumin-adjusted calcium based on a large UK population.
Clin Endocrinol (Oxf)
; 94(1): 34-39, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32892370
9.
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
Hum Mol Genet
; 27(21): 3720-3733, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30052933
10.
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.
Hum Mol Genet
; 27(5): 901-911, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29325022
11.
Genetics of Skeletal Disorders.
Handb Exp Pharmacol
; 262: 325-351, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32166388
12.
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.
N Engl J Med
; 385(2): 189-191, 2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233101
13.
Genetic approaches to metabolic bone diseases.
Br J Clin Pharmacol
; 85(6): 1147-1160, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30357886
14.
Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
J Biol Chem
; 291(20): 10876-85, 2016 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26994139
15.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hum Mol Genet
; 24(18): 5079-92, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26082470
16.
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
N Engl J Med
; 368(26): 2476-2486, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23802516
17.
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hum Mol Genet
; 21(12): 2768-78, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422767
18.
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.
N Engl J Med
; 374(14): 1396-1398, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27050234
19.
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
J Invest Dermatol
; 144(4): 811-819.e4, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802293
20.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
J Invest Dermatol
; 144(4): 820-832.e9, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802294