Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric …

F Cetani, M Lemmi, D Cervia, S Borsari… - European journal of …, 2009 - academic.oup.com
Objective Identification and characterization of calcium-sensing receptor (CASR) mutations
in four unrelated Italian kindreds with familial hypocalciuric hypercalcemia. Design Clinical …

Calcium‐sensing receptor gene polymorphism (rs7652589) is associated with calcium nephrolithiasis in the population of Yi nationality in Southwestern China

H Li, J Zhang, J Long, J Shi, Y Luo - Annals of Human Genetics, 2018 - Wiley Online Library
The calcium‐sensing receptor (CaSR) gene plays an important role in regulating the Ca2+
balance and reducing the risk for calcium stones. In this study, we evaluated the association …

A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene

N Chikatsu, S Watanabe, Y Takeuchi, Y Muraosa… - Endocrine …, 2003 - jstage.jst.go.jp
抄録 Autosomal dominant hypocalcemia (ADH) caused by activating mutations of calcium-
sensing receptor (CaSR) is characterized by hypocalcemia with inappropriately low …

[HTML][HTML] Cinacalcet effect on severe hyperparathyroidism

K Al Saran, A Sabry, A Yehia… - Saudi Journal of Kidney …, 2010 - journals.lww.com
To determine the efficacy and safety of cinacalcet, a calcimimetic drug that suppress
parathyroid hormone (PTH) production, we studied its effect on 20 patients (13 males) on …

Cinacalcet HCl prevents development of parathyroid gland hyperplasia and reverses established parathyroid gland hyperplasia in a rodent model of CKD

G Miller, J Davis, E Shatzen, M Colloton… - Nephrology Dialysis …, 2012 - academic.oup.com
Background. Secondary hyperparathyroidism (sHPT) represents an adaptive response to
progressively impaired control of calcium, phosphorus and vitamin D in chronic kidney …

[PDF][PDF] Calcium-Sensing Receptor Gene Polymorphisms among Saudi Adults: The Possible Relation with Calcium and Bone Mineral Density

WF Al Otaibi, HS Sonbol - Sciences, 2018 - curresweb.com
The calcium-sensing receptor (CaSR) gene A986S polymorphism is believed to play an
important role in maintaining serum calcium concentration within a narrow physiological …

[HTML][HTML] Identification and functional characterization of a novel mutation in the human calcium-sensing receptor that co-segregates with autosomal-dominant …

AQ Rasmussen, NR Jørgensen… - Frontiers in …, 2018 - frontiersin.org
The human calcium-sensing receptor (CASR) is the key controller of extracellular Ca o 2+
homeostasis, and different mutations in the CASR gene have been linked to different …

The impact of functional characterization of variants in calcium sensing receptor gene (CASR) on the clinical diagnosis

A Apetrei, N Richard, S Allouche, A Groso… - European Human …, 2022 - hal.science
The human calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that signals
via intracellular calcium mobilization and MAPK pathway to regulate extracellular calcium …

Calcium-sensing receptor and hypoparathyroidism

T Michigami - Clinical Calcium, 2007 - europepmc.org
Serum level of parathyroid hormone (PTH) is strictly regulated by serum calcium
concentration, which is sensed by the calcium-sensing receptor (CaSR), a member of G …

CASR gene activating mutations in two families with autosomal dominant hypocalcemia

V Guarnieri, AV D'Elia, F Baorda, V Pazienza… - Molecular genetics and …, 2012 - Elsevier
BACKGROUND: Autosomal dominant hypocalcemia (ADH) is an endocrine disorder caused
by activating mutations of the calcium-sensing receptor (CASR) gene which plays a major …