Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy
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منابع مشابه
Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy
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 hel...
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Loss-of-function mutations of GNA11, which encodes G-protein subunit α11 (Gα11), a signaling partner for the calcium-sensing receptor (CaSR), result in familial hypocalciuric hypercalcemia type 2 (FHH2). FHH2 is characterized by hypercalcemia, inappropriately normal or raised parathyroid hormone (PTH) concentrations, and normal or low urinary calcium excretion. A mouse model for FHH2 that would...
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ژورنال
عنوان ژورنال: JCI Insight
سال: 2017
ISSN: 2379-3708
DOI: 10.1172/jci.insight.91103