Extracellular calcium-sensing receptor
Definition:
References:
-
[1]. Piero Stratta, et al. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. Nephrol Dial Transplant. 2014 Oct;29(10):1902-9. [Content Brief]
[2]. Yong Geng, et al. Structural mechanism of ligand activation in human calcium-sensing receptor. Elife. 2016 Jul 19;5:e13662. [Content Brief]
[3]. Vito Guarnieri, et al. CASR gene activating mutations in two families with autosomal dominant hypocalcemia. Mol Genet Metab. 2012 Nov;107(3):548-52. [Content Brief]
[4]. J E Garrett, et al. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem. 1995 May 26;270(21):12919-25. [Content Brief]
[5]. Eugenio Mastromatteo, et al. A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. BMC Endocr Disord. 2014 Oct 7;14:81. [Content Brief]
[6]. M Bai, et al. Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. J Biol Chem. 1996 Aug 9;271(32):19537-45. [Content Brief]
[7]. S H Pearce, et al. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest. 1996 Oct 15;98(8):1860-6. [Content Brief]
[8]. Natalia Baran, et al. Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia. Mol Cell Endocrinol. 2015 May 15;407:18-25. [Content Brief]
[9]. Abdallah Al-Salameh, et al. A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia. Eur J Endocrinol. 2011 Aug;165(2):359-63. [Content Brief]
[10]. Eun Sook Kim, et al. Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. J Bone Miner Metab. 2016 Nov;34(6):662-667. [Content Brief]
[11]. Michael P Grant, et al. Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude. Sci Signal. 2011 Nov 22;4(200):ra78. [Content Brief]
[12]. Chen Zhang, et al. Structural basis for regulation of human calcium-sensing receptor by magnesium ions and an unexpected tryptophan derivative co-agonist. Sci Adv. 2016 May 27;2(5):e1600241. [Content Brief]
[13]. Akie Nakamura, et al. Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143. J Clin Endocrinol Metab. 2013 Oct;98(10):E1692-701. [Content Brief]
[14]. H Heath 3rd, et al. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab. 1996 Apr;81(4):1312-7. [Content Brief]
[15]. Judit Tõke, et al. Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. Clin Endocrinol (Oxf). 2007 Sep;67(3):385-92. [Content Brief]
[16]. Steven A Lietman, et al. A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. J Clin Endocrinol Metab. 2009 Nov;94(11):4372-9. [Content Brief]