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