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Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias

Abstract:

The calcium-sensing receptor (CaSR) is a homodimeric G-protein-coupled receptor that signals via intracellular calcium (Ca2+i) mobilisation and phosphorylation of extracellular signal-regulated kinase 1/2 (ERK) to regulate extracellular calcium (Ca2+e) homeostasis. The central importance of the CaSR in Ca2+e homeostasis has been demonstrated by the identification of loss- or gain-of-function CaSR mutations that lead to familial hypocalciuric hypercalcaemia (FHH) or autosomal dominant hypocalc...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddy263

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM OCDEM
Oxford college:
Exeter College
Role:
Author
ORCID:
0000-0002-1361-9174
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Sub department:
Structural Biology
Role:
Author
ORCID:
0000-0002-4847-5529
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Funding agency for:
Malinauskas, T
Grant:
LT000021/2014-L
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Funding agency for:
Siebold, C
Grant:
647278
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Funding agency for:
Thakker, R
Grant:
NF-SI-0514-10091
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Funding agency for:
Thakker, R
Grant:
NF-SI-0514-10091
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Publisher:
Oxford University Press Publisher's website
Journal:
Human Molecular Genetics Journal website
Volume:
27
Issue:
21
Pages:
3720-3733
Publication date:
2018-07-20
Acceptance date:
2018-07-09
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pmid:
30052933
Source identifiers:
891787
Language:
English
Keywords:
Pubs id:
pubs:891787
UUID:
uuid:59fed675-84c6-4173-811d-8456972eefc8
Local pid:
pubs:891787
Deposit date:
2018-11-20

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