PMID- 23856265
OWN - NLM
STAT- MEDLINE
DCOM- 20131021
LR  - 20220330
IS  - 1878-1594 (Electronic)
IS  - 1521-690X (Linking)
VI  - 27
IP  - 3
DP  - 2013 Jun
TI  - Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte 
      and water metabolism.
PG  - 359-71
LID - S1521-690X(13)00039-0 [pii]
LID - 10.1016/j.beem.2013.04.007 [doi]
AB  - The extracellular calcium-sensing receptor (CaSR) is a family C G-protein-coupled 
      receptor (GPCR) that is expressed at multiple sites, including the parathyroids 
      and kidneys. The human CASR gene, located on chromosome 3q21.1, encodes a 1078 
      amino acid protein. More than 230 different disease-causing mutations of the CaSR 
      have been reported. Loss-of-function mutations lead to three hypercalcemic 
      disorders, which are familial hypocalciuric hypercalcemia (FHH), neonatal severe 
      hyperparathyroidism and primary hyperparathyroidism. Gain-of-function mutations, 
      on the other hand, result in the hypocalcemic disorders of autosomal dominant 
      hypocalcemia and Bartter syndrome type V. Moreover, autoantibodies directed 
      against the extracellular domain of the CaSR have been found to be associated 
      with FHH in some patients, and also in some patients with hypoparathyroidism that 
      may be part of autoimmune polyglandular syndrome type 1. Studies of 
      disease-causing CASR mutations have provided insights into structure-function 
      relationships and highlighted intra-molecular domains that are critical for 
      ligand binding, intracellular signaling, and receptor trafficking.
CI  - Copyright (c) 2013 Elsevier Ltd. All rights reserved.
FAU - Hannan, Fadil M
AU  - Hannan FM
AD  - Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and 
      Metabolism, Nuffield Department of Clinical Medicine, University of Oxford, 
      Churchill Hospital, Oxford OX3 7LJ, UK. fadil.hannan@ocdem.ox.ac.uk
FAU - Thakker, Rajesh V
AU  - Thakker RV
LA  - eng
GR  - G1000467/Medical Research Council/United Kingdom
GR  - G9825289/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130518
PL  - Netherlands
TA  - Best Pract Res Clin Endocrinol Metab
JT  - Best practice & research. Clinical endocrinology & metabolism
JID - 101120682
RN  - 0 (Receptors, Calcium-Sensing)
SB  - IM
MH  - Humans
MH  - Hypercalcemia/*genetics/metabolism
MH  - Hypocalcemia/*genetics/metabolism
MH  - Hypoparathyroidism/genetics/metabolism
MH  - *Mutation
MH  - Receptors, Calcium-Sensing/*genetics/metabolism
MH  - Water-Electrolyte Balance/*genetics
OTO - NOTNLM
OT  - Bartter syndrome
OT  - G-protein-coupled receptor
OT  - autoantibodies
OT  - autosomal dominant hypocalcemia
OT  - familial hypocalciuric hypercalcemia
OT  - parathyroid hormone
OT  - primary hyperparathyroidism
EDAT- 2013/07/17 06:00
MHDA- 2013/10/22 06:00
CRDT- 2013/07/17 06:00
PHST- 2013/07/17 06:00 [entrez]
PHST- 2013/07/17 06:00 [pubmed]
PHST- 2013/10/22 06:00 [medline]
AID - S1521-690X(13)00039-0 [pii]
AID - 10.1016/j.beem.2013.04.007 [doi]
PST - ppublish
SO  - Best Pract Res Clin Endocrinol Metab. 2013 Jun;27(3):359-71. doi: 
      10.1016/j.beem.2013.04.007. Epub 2013 May 18.