Citations for
1CASR, NSHPT
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Glaudo M, Letz S, Quinkler M, Bogner U, Elbelt U, Strasburger CJ, Schnabel D, Lankes E, Scheel S, Feldkamp J, Haag C, Schulze E, Frank-Raue K, Raue F, Mayr B, Schöfl C.
Eur J Endocrinol. Nov;175(5):421-31. doi: 10.1530/EJE-16-0223 2016
2NSHPT, CASR, HHC1
Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.
Pidasheva S, Grant M, Canaff L, Ercan O, Kumar U, Hendy GN.
Hum Mol Genet 15(14):2200-9. Epub 2006 Jun 1. 2006
3NSHPT, HHC1, CASR
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN.
Hum Mol Genet 14(12):1679-90. Epub 2005 May 6. 2005
4CASR, NSHPT, HHC1
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN.
J Clin Endocrinol Metab 90(2):864-70. Epub 2004 Nov 30. 2005
5NSHPT, CASR
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.
D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN.
J Clin Endocrinol Metab 87(3):1309-18. 2002
6CASR, HHC1, HYPOCA, NSHPT
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE.
Hum Mutat 16(4):281-96. 2000
7CASR, NSHPT
Familial hypoparathyroidism : identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
Watanabe T, et al.
J Clin Endocrinol Metab 83 : 2497-2502. 1998
8CASR, NSHPT
Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.
Kobayashi M, Tanaka H, Tsuzuki K, Tsuyuki M, Igaki H, Ichinose Y, Aya K, Nishioka N, Seino Y.
J Clin Endocrinol Metab 82(8):2716-9. 1997
9HHC1, HYPOCA, NSHPT, CASR
Expression and characterization of inactivating and activating mutations in the human Ca2+ o-sensing receptor.
Bai M, et al.
J Biol Chem 271 : 19537-19545. 1996
10CASR, HHC1, NSHPT
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Ho C, et al.
Nat Genet 11 : 389-394. 1995
11CASR, NSHPT
Insertion of an alu sequence in the Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Janicic N, et al.
Am J Hum Genet 56 : 880-886. 1995
12CASR, HHC1, NSHPT
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Pollak MR, et al.
J Clin Invest 93 : 1108-1112. 1994
13CASR, HHC1, NSHPT
Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Pollak MR, et al.
Cell 75 : 1297-1303. 1993