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Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

Abstract:

Heterozygous germline gain-of-function mutations of G-protein subunit α11 (Gα11), a signaling partner for the calcium-sensing receptor (CaSR), result in autosomal dominant hypocalcemia type 2 (ADH2). ADH2 may cause symptomatic hypocalcemia with low circulating parathyroid hormone (PTH) concentrations. Effective therapies for ADH2 are currently not available and a mouse model for ADH2 would help in assessment of potential therapies. We hypothesised that a previously reported dark skin mouse mu...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

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Publisher copy:
10.1172/jci.insight.91103

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Department:
Exeter College
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Department:
Oxford, MSD, RDM, OCDEM
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Department:
Oxford, MSD, RDM, OCDEM
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Department:
Oxford, MSD, RDM, OCDEM
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Department:
Oxford, MSD, RDM, OCDEM
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Funding agency for:
Gorvin, Caroline
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Funding agency for:
Hannan, Fadil
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Publisher:
American Society for Clinical Investigation Publisher's website
Journal:
JCI insight Journal website
Volume:
2
Issue:
3
Pages:
e91103
Publication date:
2017-02-09
Acceptance date:
2017-01-03
DOI:
ISSN:
2379-3708
Pubs id:
pubs:673338
URN:
uri:6775b377-dcb9-4c29-8cdf-826fdae82acb
UUID:
uuid:6775b377-dcb9-4c29-8cdf-826fdae82acb
Local pid:
pubs:673338

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