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Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss‐of‐function Gα11 mutation

Abstract:

G‐protein subunit α‐11 (Gα11) couples the calcium‐sensing receptor (CaSR) to phospholipase C (PLC)‐mediated intracellular calcium (Ca2+i) and mitogen‐activated protein kinase (MAPK) signaling, which in the parathyroid glands and kidneys regulates parathyroid hormone release and urinary calcium excretion, respectively. Heterozygous germline loss‐of‐function Gα11 mutations cause familial hypocalciuric hypercalcemia type 2 (FHH2), for which effective therapies are currently not available. Here, ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/jbmr.3241

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Institution:
University of Oxford
Oxford college:
Exeter College
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
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Finska Lakaresallskapet More from this funder
Helsinki University Hospital Research Funds More from this funder
National Institute for Health Research More from this funder
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Grant:
Senior Investigator Award
Academy of Finland More from this funder
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Publisher:
Wiley Publisher's website
Journal:
Journal of Bone and Mineral Research Journal website
Volume:
33
Issue:
1
Pages:
32-41
Publication date:
2017-08-18
Acceptance date:
2017-08-14
DOI:
EISSN:
1523-4681
ISSN:
0884-0431
Pmid:
28833550
Source identifiers:
724219
Language:
English
Keywords:
Pubs id:
pubs:724219
UUID:
uuid:8480961f-d232-495f-8f68-0e4832db4a6d
Local pid:
pubs:724219
Deposit date:
2017-09-01

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