Gα(11) mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

Heterozygous germline gain-of-function mutations of G-protein subunit α(11) (Gα(11)), 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) concentra...

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Enregistré dans:
Détails bibliographiques
Publié dans:JCI Insight
Auteurs principaux: Gorvin, Caroline M., Hannan, Fadil M., Howles, Sarah A., Babinsky, Valerie N., Piret, Sian E., Rogers, Angela, Freidin, Andrew J., Stewart, Michelle, Paudyal, Anju, Hough, Tertius A., Nesbit, M. Andrew, Wells, Sara, Vincent, Tonia L., Brown, Stephen D.M., Cox, Roger D., Thakker, Rajesh V.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2017
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5291742/
https://ncbi.nlm.nih.gov/pubmed/28194447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.91103
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