GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia

ABSTRACT Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss‐ and gain‐of‐function mutations, respectively, of the GNA11 gene that encodes the G protein subunit Gα11, a signaling partner of the calcium‐sensing receptor (CaSR). To date,...

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Veröffentlicht in:	Journal of bone and mineral research 2023-06, Vol.38 (6), p.907-917
Hauptverfasser:	Howles, Sarah A., Gorvin, Caroline M., Cranston, Treena, Rogers, Angela, Gluck, Anna K., Boon, Hannah, Gibson, Kate, Rahman, Mushtaqur, Root, Allen, Nesbit, M. Andrew, Hannan, Fadil M., Thakker, Rajesh V.
Format:	Artikel
Sprache:	eng
Schlagworte:	5' Untranslated Regions Benign Calcium (extracellular) Calcium (intracellular) Calcium - metabolism Calcium-sensing receptors CALCIUM‐SENSING RECEPTOR CELL/TISSUE SIGNALING‐ENDOCRINE PATHWAYS FAMILIAL HYPOCALCIURIC HYPERCALCEMIA G PROTEIN‐COUPLED RECEPTORS GTP-Binding Protein alpha Subunits - genetics GTP-Binding Protein alpha Subunits - metabolism HEK293 Cells Homology Humans Hypercalcemia Hypercalcemia - genetics Hypocalcemia Hypocalcemia - genetics Hypocalcemia - metabolism mRNA Mutation Mutation - genetics Receptors, Calcium-Sensing - genetics Receptors, Calcium-Sensing - metabolism
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