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1995 2
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The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV. Hannan FM, et al. Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. Nat Rev Endocrinol. 2018. PMID: 30443043 Free PMC article. Review.
The Ca(2+)-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as the parathyroid glands and the kidneys and signals via G proteins and beta-arrestin. The CaSR has a pivotal role in bone and mineral metabol …
The Ca(2+)-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as …
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome. The differenti
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting o
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG, Lee CHL, Dimke H, Todd Alexander R. Tan RSG, et al. Exp Biol Med (Maywood). 2021 Nov;246(22):2407-2419. doi: 10.1177/15353702211010415. Epub 2021 Apr 29. Exp Biol Med (Maywood). 2021. PMID: 33926258 Free PMC article. Review.
Gain-of-function mutations in the CaSR result in autosomal dominant hypocalcemia type 1, while loss-of-function mutations cause familial hypocalciuric hypercalcemia. Additionally, the putative serine protease, FAM111A, is discussed as a potential regulator of …
Gain-of-function mutations in the CaSR result in autosomal dominant hypocalcemia type 1, while loss-of-function mutatio …
The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.
Kwon EJ, Kim MS, Noh ES, Kim CW, Jang J, Choi JH, Cho SY, Jin DK. Kwon EJ, et al. Ann Clin Lab Sci. 2022 May;52(3):494-498. Ann Clin Lab Sci. 2022. PMID: 35777808 Review.
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ...Clinical features related to hypocalcemia in ADH2 range from asymptomatic to tetany and seizures. ...
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentration
GNAS locus and pseudohypoparathyroidism.
Bastepe M, Jüppner H. Bastepe M, et al. Horm Res. 2005;63(2):65-74. doi: 10.1159/000083895. Epub 2005 Feb 9. Horm Res. 2005. PMID: 15711092 Free article. Review.
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). ...PHP-Ia and PPHP are caused by heterozygous inactivating mutations in those exons of GNAS encoding the alpha subunit of the stimulatory g …
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). …
Inherited disorders of renal magnesium handling.
Cole DEC, Quamme GA. Cole DEC, et al. J Am Soc Nephrol. 2000 Oct;11(10):1937-1947. doi: 10.1681/ASN.V11101937. J Am Soc Nephrol. 2000. PMID: 11004227 Review.
The described disorders include (1) hypomagnesemia with secondary hypocalcemia, an earlyonset, autosomal-recessive disease segregating with chromosome 9q12-22.2; (2) autosomal-dominant hypomagnesemia caused by isolated renal magnesium was …
The described disorders include (1) hypomagnesemia with secondary hypocalcemia, an earlyonset, autosomal-recessive disease seg …
Insights into calcium-sensing receptor trafficking and biased signalling by studies of calcium homeostasis.
Gorvin CM. Gorvin CM. J Mol Endocrinol. 2018 Jul;61(1):R1-R12. doi: 10.1530/JME-18-0049. Epub 2018 Mar 29. J Mol Endocrinol. 2018. PMID: 29599414 Review.
The first, identified by studying a CASR gain-of-function mutation that causes autosomal dominant hypocalcaemia (ADH), demonstrated a structural motif located between the third transmembrane domain and the second extracellular loop of the CASR that mediates b …
The first, identified by studying a CASR gain-of-function mutation that causes autosomal dominant hypocalcaemia (ADH), …
Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.
Hannan FM, Olesen MK, Thakker RV. Hannan FM, et al. Br J Pharmacol. 2018 Nov;175(21):4083-4094. doi: 10.1111/bph.14086. Epub 2017 Dec 11. Br J Pharmacol. 2018. PMID: 29127708 Free PMC article. Review.
The calcium-sensing receptor (CaS receptor) plays a pivotal role in extracellular calcium homeostasis, and germline loss-of-function and gain-of-function mutations cause familial hypocalciuric hypercalcaemia (FHH) and autosomal dominant hypocalcaemia (ADH), r …
The calcium-sensing receptor (CaS receptor) plays a pivotal role in extracellular calcium homeostasis, and germline loss-of-function and gai …
Control of renal calcium, phosphate, electrolyte, and water excretion by the calcium-sensing receptor.
Tyler Miller R. Tyler Miller R. Best Pract Res Clin Endocrinol Metab. 2013 Jun;27(3):345-58. doi: 10.1016/j.beem.2013.04.009. Epub 2013 May 15. Best Pract Res Clin Endocrinol Metab. 2013. PMID: 23856264 Review.
Cloning of the calcium-sensing receptor (CaSR) along with the recognition that mutations in the CaSR gene are responsible for two familial syndromes characterized by abnormalities in the regulation of PTH secretion and Ca(2+) metabolism (Familial Hypocalciuric Hypercalcemi …
Cloning of the calcium-sensing receptor (CaSR) along with the recognition that mutations in the CaSR gene are responsible for two familial s …
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM. Gorvin CM. J Mol Endocrinol. 2019 Aug;63(2):R1-R16. doi: 10.1530/JME-19-0104. J Mol Endocrinol. 2019. PMID: 31189130 Review.
CaSR-inactivating mutations cause neonatal severe hyperparathyroidism, characterised by marked hypercalcaemia, skeletal demineralisation and failure to thrive in early infancy; and familial hypocalciuric hypercalcaemia, an often asymptomatic disorder associated with mild-moderate …
CaSR-inactivating mutations cause neonatal severe hyperparathyroidism, characterised by marked hypercalcaemia, skeletal demineralisation and …
31 results