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Citations to this article

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
S H Pearce, … , C R Paterson, M P Whyte
S H Pearce, … , C R Paterson, M P Whyte
Published December 1, 1995
Citation Information: J Clin Invest. 1995;96(6):2683-2692. https://doi.org/10.1172/JCI118335.
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Research Article Article has an altmetric score of 9

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

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Abstract

Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mutations in FBH and NHPT and to explore methods for their more rapid detection. Nine unrelated kindreds (39 affected, 32 unaffected members) with FBH and three unrelated children with sporadic NHPT were investigated for mutations in the 3,234-bp coding region of the CaR gene by DNA sequencing. Six novel heterozygous (one nonsense and five missense) mutations were identified in six of the nine FBH kindreds, and two de novo heterozygous missense mutations and one homozygous frame-shift mutation were identified in the three children with NHPT. Our results expand the phenotypes associated with CaR mutations to include sporadic NHPT. Single-stranded conformational polymorphism analysis was found to be a sensitive and specific mutational screening method that detected > 85% of these CaR gene mutations. The single-stranded conformational polymorphism identification of CaR mutations may help in the distinction of FBH from mild primary hyperparathyroidism which can be clinically difficult. Thus, the results of our study will help to supplement the clinical evaluation of some hypercalcemic patients and to elucidate further the structure-function relationships of the CaR.

Authors

S H Pearce, D Trump, C Wooding, G M Besser, S L Chew, D B Grant, D A Heath, I A Hughes, C R Paterson, M P Whyte

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2002 2001 2000 1999 1998 1997 1996 1994 Total
Citations: 2 1 2 2 3 6 2 4 7 3 9 7 9 10 10 6 9 8 9 9 8 9 5 10 9 21 21 15 16 8 1 241
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Citations to this article in year 2015 (9)

Title and authors Publication Year
Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-in Mice Mimicking Autosomal Dominant Hypocalcemia (ADH)
B Dong, I Endo, Y Ohnishi, T Kondo, T Hasegawa, N Amizuka, H Kiyonari, G Shioi, M Abe, S Fukumoto, T Matsumoto
Journal of Bone and Mineral Research 2015
Towards tissue-specific pharmacology: insights from the calcium-sensing receptor as a paradigm for GPCR (patho)physiological bias
K Leach, AD Conigrave, PM Sexton, A Christopoulos
Trends in Pharmacological Sciences 2015
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia
N Baran, M Braak, R Saffrich, J Woelfle, U Schmitz
Molecular and Cellular Endocrinology 2015
Polyclonality of Parathyroid Tumors in Neonatal Severe Hyperparathyroidism: POLYCLONALITY OF PARATHYROID TUMORS IN NSHPT
KR Corrado, SC Andrade, J Bellizzi, L D'Souza-Li, A Arnold
Journal of Bone and Mineral Research 2015
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients
MM Fisher, SM Cabrera, EA Imel
Endocrinology, diabetes & metabolism case reports 2015
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects
FM Hannan, SA Howles, A Rogers, T Cranston, CM Gorvin, VN Babinsky, AA Reed, CE Thakker, D Bockenhauer, RS Brown, JM Connell, J Cook, K Darzy, S Ehtisham, U Graham, T Hulse, SJ Hunter, L Izatt, D Kumar, MJ McKenna, JA McKnight, PJ Morrison, MZ Mughal, D O'Halloran, SH Pearce, ME Porteous, M Rahman, T Richardson, R Robinson, I Scheers, H Siddique, WG Hoff, T Wang, MP Whyte, MA Nesbit, RV Thakker
Human Molecular Genetics 2015
The calcium-sensing receptor: And its involvement in parathyroid pathology
RV Thakker
Annales d'Endocrinologie 2015
Hyperparathyroidism and the general paediatrician
T Cheetham, R Bliss
Archives of disease in childhood 2015
Pediatric Nephrology
ED Avner, WE Harmon, P Niaudet, N Yoshikawa, F Emma, S Goldstein
Pediatric Nephrology 2015

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