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Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

Abstract:

Heterotrimeric G proteins play critical roles in transducing extracellular signals generated by 7-transmembrane domain receptors. Somatic gain-of-function mutations in G protein α subunits are associated with a variety of diseases. Recently, we identified gain-of-function mutations in Gα11 in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid hormone (PTH), and hyperphosphatemia. We have generated knockin mice harboring the poin...

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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.91079

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Institution:
University of Oxford
Department:
Exeter College
Role:
Author
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Publisher:
American Society for Clinical Investigation Publisher's website
Journal:
JCI Insight Journal website
Volume:
2
Issue:
3
Publication date:
2017-02-09
Acceptance date:
2017-01-03
DOI:
ISSN:
2379-3708
Pubs id:
pubs:679250
URN:
uri:dc0bb669-54ed-4a4f-8f98-26a8252c340b
UUID:
uuid:dc0bb669-54ed-4a4f-8f98-26a8252c340b
Local pid:
pubs:679250
Paper number:
3

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