PMID- 7916660
OWN - NLM
STAT- MEDLINE
DCOM- 19940131
LR  - 20190705
IS  - 0092-8674 (Print)
IS  - 0092-8674 (Linking)
VI  - 75
IP  - 7
DP  - 1993 Dec 31
TI  - Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric 
      hypercalcemia and neonatal severe hyperparathyroidism.
PG  - 1297-303
AB  - We demonstrate that mutations in the human Ca(2+)-sensing receptor gene cause 
      familial hypocalciuric hypercalcemia (FHH) and neonatal severe 
      hyperparathyroidism (NSHPT), two inherited conditions characterized by altered 
      calcium homeostasis. The Ca(2+)-sensing receptor belongs to the superfamily of 
      seven membrane-spanning G protein-coupled receptors. Three nonconservative 
      missense mutations are reported: two occur in the extracellular N-terminal domain 
      of the receptor; the third occurs in the final intracellular loop. One mutated 
      receptor identified in FHH individuals was expressed in X. laevis oocytes. The 
      expressed wild-type receptor elicited large inward currents in response to 
      perfused polyvalent cations; a markedly attenuated response was observed with the 
      mutated protein. We conclude that the mammalian Ca(2+)-sensing receptor "sets" 
      the extracellular Ca2+ level and is defective in individuals with FHH and NSHPT.
FAU - Pollak, M R
AU  - Pollak MR
AD  - Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 
      02115.
FAU - Brown, E M
AU  - Brown EM
FAU - Chou, Y H
AU  - Chou YH
FAU - Hebert, S C
AU  - Hebert SC
FAU - Marx, S J
AU  - Marx SJ
FAU - Steinmann, B
AU  - Steinmann B
FAU - Levi, T
AU  - Levi T
FAU - Seidman, C E
AU  - Seidman CE
FAU - Seidman, J G
AU  - Seidman JG
LA  - eng
SI  - GENBANK/L20823
SI  - GENBANK/L20888
SI  - GENBANK/L20889
SI  - GENBANK/L33709
SI  - GENBANK/S60904
SI  - GENBANK/S60905
SI  - GENBANK/S60924
SI  - GENBANK/S68032
SI  - GENBANK/S68033
SI  - GENBANK/S68036
GR  - DK02138/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.
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
RN  - 0 (DNA Primers)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
RN  - SY7Q814VUP (Calcium)
SB  - IM
CIN - Cell. 1993 Dec 31;75(7):1237-9. PMID: 8269505
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Calcium/physiology
MH  - Cloning, Molecular
MH  - DNA Primers/chemistry
MH  - Gene Expression
MH  - Genes
MH  - Humans
MH  - Hypercalcemia/*genetics
MH  - Hyperparathyroidism/congenital/*genetics
MH  - Membrane Glycoproteins/genetics
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Pedigree
MH  - RNA, Messenger/genetics
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/*genetics
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
EDAT- 1993/12/31 00:00
MHDA- 1993/12/31 00:01
CRDT- 1993/12/31 00:00
PHST- 1993/12/31 00:00 [pubmed]
PHST- 1993/12/31 00:01 [medline]
PHST- 1993/12/31 00:00 [entrez]
AID - 0092-8674(93)90617-Y [pii]
AID - 10.1016/0092-8674(93)90617-y [doi]
PST - ppublish
SO  - Cell. 1993 Dec 31;75(7):1297-303. doi: 10.1016/0092-8674(93)90617-y.