Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia-Reference-Cited by-同舟云学术

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia

Published:2018-04-25 Issue: Volume:9 Page:
ISSN:1664-2392
Container-title:Frontiers in Endocrinology
language:
Short-container-title:Front. Endocrinol.

Author:

Rasmussen Anne Qvist,Jørgensen Niklas Rye,Schwarz Peter

Publisher

Frontiers Media SA

Subject

Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Four-parameter model of the sigmoidal relationship between parathyroid hormone release and extracellular calcium concentration in normal and abnormal parathyroid tissue;Brown;J Clin Endocrinol Metab,1983

2. Role of the calcium-sensing receptor in extracellular calcium homeostasis;Brown;Best Pract Res Clin Endocrinol Metab,2013

3. Extracellular calcium and cAMP: second messengers as “third messengers”?;Hofer;Physiology (Bethesda),2007

4. Calcium receptor-mediated intracellular signalling;Ward;Cell Calcium,2004

5. Calcium receptor is functionally expressed in rat neonatal ventricular cardiomyocytes;Tfelt-Hansen;Am J Physiol Heart Circ Physiol,2006

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