Excessive Signal Transduction of Gain-of-Function Variants of the Calcium-Sensing Receptor (CaSR) Are Associated with Increased ER to Cytosol Calcium Gradient

In humans, gain-of-function mutations of the calcium-sensing receptor (CASR) gene are the cause of autosomal dominant hypocalcemia or type 5 Bartter syndrome characterized by an abnormality of calcium metabolism with low parathyroid hormone levels and excessive renal calcium excretion. Functional ch...

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Detalles Bibliográficos
Autores principales: Ranieri, Marianna, Tamma, Grazia, Di Mise, Annarita, Vezzoli, Giuseppe, Soldati, Laura, Svelto, Maria, Valenti, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828282/
https://www.ncbi.nlm.nih.gov/pubmed/24244430
http://dx.doi.org/10.1371/journal.pone.0079113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828282/
https://www.ncbi.nlm.nih.gov/pubmed/24244430
http://dx.doi.org/10.1371/journal.pone.0079113

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