PMID- 9362389
OWN - NLM
STAT- MEDLINE
DCOM- 19971125
LR  - 20180215
IS  - 0301-0163 (Print)
IS  - 0301-0163 (Linking)
VI  - 48
IP  - 5
DP  - 1997
TI  - Mutations in the calcium-sensing receptor and their clinical implications.
PG  - 199-208
AB  - Specialized cells (i.e., parathyroid chief cells) that sense changes in the 
      extracellular calcium concentration are a key element in mineral ion homeostasis. 
      The Ca2+o-sensing receptor (CaR) originally cloned from bovine parathyroid is 
      also present in multiple nephron segments involved in Ca2+o homeostasis as well 
      as in other sites that are not, such as brain, lung, large and small intestine. 
      The physiological relevance of the CaR has been established by identifying hyper- 
      and hypocalcemic disorders resulting from CaR mutations: familial hypocalciuric 
      hypercalcemia (FHH) and neonatal severe hyperparathyroidism result from 
      inactivating CaR mutations, while an autosomal dominant form ofhypocalcemia is 
      caused by activating mutations. In addition to sensing Ca2+o and Mg2+o abnormally 
      (the latter suggesting the CaR acts as an Mg2+o-sensing receptor), persons with 
      FHH have alterations in their handling of water, supporting a role for the CaR in 
      integrating mineral ion and water metabolism. Drugs that activate the CaR 
      ('calcimimetics') are currently undergoing clinical trials and will permit 
      pharmacological manipulation of the receptor when it functions abnormally (e.g., 
      in primary hyperparathyroidism).
FAU - Brown, E M
AU  - Brown EM
AD  - Department of Medicine, Brigham and Women's Hospital, Boston, Mass. 02115, USA. 
      embrown@bics.bwh.harvard.edu
LA  - eng
GR  - DK41415/DK/NIDDK NIH HHS/United States
GR  - DK44588/DK/NIDDK NIH HHS/United States
GR  - DK46422/DK/NIDDK NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - Switzerland
TA  - Horm Res
JT  - Hormone research
JID - 0366126
RN  - 0 (CASR protein, human)
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
RN  - EC 3.6.1.- (GTP-Binding Proteins)
RN  - I38ZP9992A (Magnesium)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Calcium/physiology
MH  - Calcium Metabolism Disorders/*genetics
MH  - Calcium-Binding Proteins/genetics/physiology
MH  - GTP-Binding Proteins/physiology
MH  - Homeostasis
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Magnesium/physiology
MH  - *Mutation
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/chemistry/*genetics/physiology
MH  - Signal Transduction
RF  - 49
EDAT- 1997/01/01 00:00
MHDA- 1997/11/15 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1997/11/15 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - 10.1159/000185516 [doi]
PST - ppublish
SO  - Horm Res. 1997;48(5):199-208. doi: 10.1159/000185516.