Mutations of the calcium‐sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant …

GN Hendy, L D'Souza‐Li, B Yang, L Canaff… - Human …, 2000 - Wiley Online Library
The calcium‐sensing receptor (CASR) is a plasma membrane G protein coupled receptor
that is expressed in the parathyroid hormone (PTH) producing chief cells of the parathyroid …

Hypercalcemia in children and adolescents

SA Lietman, EL Germain-Lee… - Current opinion in …, 2010 - journals.lww.com
Normal serum levels of calcium are maintained through the interplay of parathyroid, renal,
and skeletal factors. In this review, we have distinguished the neonate and infant from the …

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

MR Pollak, YH Chou, SJ Marx… - The Journal of …, 1994 - Am Soc Clin Investig
Neonatal severe hyperparathyroidism is a rare life-threatening disorder characterized by
very high serum calcium concentrations (> 15 mg/dl). Many cases have occurred in families …

Calcium-sensing receptor and associated diseases

GN Hendy, V Guarnieri, L Canaff - Progress in molecular biology and …, 2009 - Elsevier
The calcium-sensing receptor (CASR) is expressed in parathyroid hormone (PTH)-secreting
cells of the parathyroid gland and cells lining the renal tubule. The activated CASR …

Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly

S Pidasheva, M Grant, L Canaff, O Ercan… - Human molecular …, 2006 - academic.oup.com
Abstract Calcium-sensing receptor (CASR), expressed in parathyroid gland and kidney, is a
critical regulator of extracellular calcium homeostasis. This G protein-coupled receptor exists …

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias …

FM Hannan, SA Howles, A Rogers… - Human molecular …, 2015 - academic.oup.com
The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of
plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of …

Perinatal calcium metabolism: physiology and pathophysiology

SC Hsu, MA Levine - Seminars in Neonatology, 2004 - Elsevier
Disturbances in mineral homeostasis are common in the neonatal period, especially in
premature infants and infants who are hospitalised in an intensive care unit. In many cases …

Regulation of axonal and dendritic growth by the extracellular calcium-sensing receptor

TN Vizard, GW O'Keeffe, H Gutierrez, CH Kos… - Nature …, 2008 - nature.com
The extracellular calcium-sensing receptor (CaSR) monitors the systemic, extracellular, free
ionized-calcium level ([Ca2+] o) in organs involved in systemic [Ca2+] o homeostasis …

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant …

L D'Souza-Li, B Yang, L Canaff, M Bai… - The Journal of …, 2002 - academic.oup.com
Familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism
(NSHPT), and autosomal dominant hypocalcemia (ADH), in which calcium homeostasis is …

Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review

AW Gannon, HM Monk… - The Journal of Clinical …, 2014 - academic.oup.com
Context: Neonatal severe hyperparathyroidism (NSHPT) is a severe form of familial
hypocalciuric hypercalcemia characterized by severe hypercalcemia and skeletal …