Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
نویسندگان
چکیده
منابع مشابه
A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)
Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous disorder with three variants, FHH1 to FHH3. FHH1 is caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), a G-protein coupled receptor that predominantly signals via G-protein subunit alpha-11 (Gα11 ) to regulate calcium homeostasis. FHH2 is the result of loss-of-function mutations in Gα11 , encoded...
متن کاملIdentification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is genetically heterogeneous with ADH type 1 (ADH1), the predominant form, being caused by germline gain-of-function mutations of the G-protein coupled calcium-sensing receptor (CaSR), and ADH2 caused by germline gain-of-function mutations ...
متن کاملHigh glucose condition down-regulates the inhibitory G-protein subunit, Gαi, in pheochromocytoma PC12 cells
Introduction: G-proteins have an important role in the cell signaling of numerous receptors. The situation of G-proteins in health and disease and their critical role in the development of diabetic side effects is an interested scientific field. Here, the changes in the expression of G-protein subunits (Gαi, Gαs and Gβ) were evaluated in hyperglycemic situation of PC12 cells as...
متن کاملBoth duration and degree of hypercalcemia influence the reduced parathyroid hormone response to hypocalcemia after hypercalcemia.
The stimulation of parathyroid hormone (PTH) secretion by hypocalcemia is reduced when hypocalcemia is preceded by hypercalcemia. The present study investigates whether the duration and degree of hypercalcemia influence the reduced PTH response to hypocalcemia after hypercalcemia. In addition, the implication of the arachidonic acid (AA) signaling pathway in this effect is evaluated. The PTH re...
متن کاملProlonged zoledronic acid-induced hypocalcemia in hypercalcemia of malignancy.
Zoledronic acid is a parenteral long-acting bisphosphonate that has been shown to be more effective than other bisphosphonates in treating hypercalcemia of malignancy. It is important to be aware of its ability to induce prolonged and severe hypocalcemia (hypoCa) following administration, which can be difficult to control despite aggressive calcium replacement. We report on a patient with metas...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2013
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1300253