Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation-Reference-Cited by-同舟云学术

Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation

Published:2003-02 Issue:2 Volume:58 Page:199-206
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:

Author:

Cetani Filomena,Pardi Elena,Borsari Simona,Tonacchera Massimo,Morabito Eugenia,Pinchera Aldo,Marcocci Claudio

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2265.2003.01696.x/fullpdf

Reference30 articles.

1. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal hyperparathyroidism;Bai;Journal of Clinical Investigation,1997a

2. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia;Bai;Journal of Clinical Investigation,1997b

3. Expression and characterization of inactivating and activating mutations in the human Ca2+-sensing receptor;Bai;Journal of Biological Chemistry,1996

4. Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid;Brown;Nature,1993

5. Extracellular calcium sensing and extracellular calcium signaling;Brown;Physiological Reviews,2001

Cited by 32 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Serum calcium levels are associated with cognitive function in hypoparathyroidism: a neuropsychological and biochemical study in an Italian cohort of patients with chronic post-surgical hypoparathyroidism;Journal of Endocrinological Investigation;2022-06-25

2. A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation;BMC Endocrine Disorders;2022-06-22

3. Hypomagnesuria is Associated With Nephrolithiasis in Patients With Asymptomatic Primary Hyperparathyroidism;The Journal of Clinical Endocrinology & Metabolism;2020-05-05

4. Hypercalciuria: its value as a predictive risk factor for nephrolithiasis in asymptomatic primary hyperparathyroidism?;Journal of Endocrinological Investigation;2019-12-23

5. Clinical profile of juvenile primary hyperparathyroidism: a prospective study;Endocrine;2017-05-20