Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism

G Vezzoli, A Scillitani, S Corbetta… - European journal of …, 2011 - academic.oup.com
Background and objective Single nucleotide polymorphisms (SNPs) of the calcium-sensing
receptor (CASR) gene at the regulatory region were associated with idiopathic calcium …

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

B Harding, AJ Curley, FM Hannan… - Clinical …, 2006 - Wiley Online Library
Objectives Associations between calcium‐sensing receptor (CaSR) polymorphisms and
serum calcium, PTH and bone mineral density (BMD) have been reported by six studies …

Homozygous calcium-sensing receptor polymorphism R544Q presents as hypocalcemic hypoparathyroidism

BM Cavaco, L Canaff, A Nolin-Lapalme… - The Journal of …, 2018 - academic.oup.com
Context Autosomal dominant hypocalcemia type 1 (ADH1) is caused by heterozygous
activating mutations in the calcium-sensing receptor gene (CASR). Whether polymorphisms …

Calcium-sensing receptor gene polymorphisms in primary hyperparathyroidism

F Cetani, S Borsari, E Vignali, E Pardi, A Picone… - Journal of …, 2002 - Springer
The calcium-sensing receptor (CaR) polymorphism A986S has been found to be associated
with higher serum calcium levels in normal subjects, suggesting that this amino acid change …

[HTML][HTML] R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria

G Vezzoli, A Terranegra, T Arcidiacono, R Biasion… - Kidney international, 2007 - Elsevier
An association between the R990G polymorphism of the CaSR gene, coding for calcium-
sensing receptor, and primary hypercalciuria was found in kidney stone formers. To confirm …

Corrélations phénotype-génotype du gène du récepteur sensible au calcium (CASR) dans une cohorte rétrospective de 118 cas

C Vahe, MF Odou, R Desailloud, C Leroy… - Annales d' …, 2015 - Elsevier
Les mutations inactivatrices du CASR entraînent un syndrome hypercalcémie hypocalciurie
familiale ou parfois une hyperparathyroïdie néonatale ou primaire. Le but de cette étude …

[HTML][HTML] Primary and secondary hyperparathyroidism present different expressions of calcium-sensing receptor

X Li, Y Lu, L Zhang, A Song, H Zhang, B Pang, J Liu… - BMC surgery, 2023 - Springer
Background Decreased calcium-sensing receptor (CaSR) has been observed in
hyperparathyroidism (HPT) without a known mechanism. The purpose of this study was to …

Calcium-sensing receptor gene polymorphism affects the parathyroid response to moderate hypercalcemic suppression in patients with end-stage renal disease.

K Yokoyama, T Shigematsu, T Tsukada, S Hara… - Clinical …, 2002 - europepmc.org
AIM: The basic mechanism of secondary hyperparathyroidism is still unclear, but a change
in Ca2+ sensing by parathyroid cells is possibly involved in this uremic complication. A …

R990G Polymorphism of Calcium Sensing Receptor Gene Is Associated with High Parathyroid Hormone Levels in Subjects with Vitamin D Deficiency: A Cross …

H Majid, AH Khan, T Moatter - BioMed research international, 2015 - Wiley Online Library
Single nucleotide polymorphisms (SNPs), R990G and A986S of the calcium sensing
receptor (CaSR) gene, are shown to influence response of parathyroid hormone (PTH) in …

[PDF][PDF] CASR Expression Differs Between Secondary Hyperparathyroidism and Primary Hyperparathyroidism

M Yang, Y Lu, L Zhang, A Song, H Zhang, B Pang, X Li… - 2020 - pdfs.semanticscholar.org
OBJECTIVE: Calcium-sensitive receptor (CASR) play an important role in the pathogenesis
and progression of secondary parathyroidism (SHPT). The purpose of this study is to study …