| 1 | CASR, HHC1, HYPOCA
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| Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
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| Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center
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| Am J Hum Genet. Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7. 2020
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| 2 | CASR, HHC1
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| Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.
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| Nissen PH, Rejnmark L.
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| Clin Endocrinol (Oxf). Nov;91(5):683-690. doi: 10.1111/cen.14078. Epub 2019 Sep 9. 2019
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| 3 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
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| AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia
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| Hovden S, Rejnmark L, Ladefoged SA, Nissen PH.
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| Eur J Endocrinol. Feb;176(2):177-185. doi: 10.1530/EJE-16-0842. Epub 2016 Nov 15. 2017
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| 4 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
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| Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia
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| Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto-Shkolnik L, Durst R, Leitersdorf E, Meiner V.
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| Endocrine. Mar;55(3):741-747. doi: 10.1007/s12020-017-1241-5. Epub 2017 Feb 7 2017
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| 5 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
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| Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
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| Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P.
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| J Clin Endocrinol Metab. May;101(5):2185-95. doi: 10.1210/jc.2015-3442. Epub 2016 Mar 10 2016
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| 6 | AP2S1, CASR, GNA11, HHC1, HHC2, HHC3
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| Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
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| Hannan FM, Babinsky VN, Thakker RV.
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| J Mol Endocrinol. Oct;57(3):R127-42. doi: 10.1530/JME-16-0124. 2016
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| 7 | CASR, HHC1
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| A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
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| Lietman SA, Tenenbaum-Rakover Y, Jap TS, Yi-Chi W, De-Ming Y, Ding C, Kussiny N, Levine MA.
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| J Clin Endocrinol Metab 94(11):4372-9. Epub 2009 Sep 29.PMID: 19789209 2009
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| 8 | CASR,HHC1
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| Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
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| Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN.
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| J Clin Endocrinol Metab 92(7):2616-23. Epub 2007 May 1. 2007
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| 9 | HHC1, CASR
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| Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a danish population.
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| Nissen PH, Christensen SE, Heickendorff L, Brixen K, Mosekilde L.
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| J Clin Endocrinol Metab 92(11):4373-9. Epub 2007 Aug 14. 2007
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| 10 | 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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| 11 | CASR, HHC1
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| Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.
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| Ward BK, Magno AL, Blitvich BJ, Rea AJ, Stuckey BG, Walsh JP, Ratajczak T.
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| Clin Endocrinol (Oxf) 64(5):580-7. 2006
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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | CASR, HHC1
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| Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia
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| Conley YP, Finegold DN, Peters DG, Cook JS, Oppenheim DS, Ferrell RE.
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| Mol Genet Metab 71(4):591-8. 2000
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| 16 | CASR, HHC1
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| A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.
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| Ward BK, Stuckey BG, Gutteridge DH, Laing NG, Pullan PT, Ratajczak T.
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| Hum Mutat 10(3):233-5. No abstract available. 1997
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| 17 | 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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| 18 | HHC1, CASR
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| Familial hypocalciuric hypercalcemia associated with mutation in the human Ca2+ sensing receptor gene.
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| Aida K, et al.
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| J Clin Endocrinol Metab 80 : 2594-2598. 1995
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| 19 | 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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| 20 | HHC1
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| Mutations in the human Ca2+-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.
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| Wu Chou YH, et al.
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| Am J Hum Genet 56 : 1075-1079. 1995
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| 21 | HHC1, HHC2
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| Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH)and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.
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| Trump D, et al.
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| Hum Genet 96 : 183-187. 1995
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| 22 | CASR, HHC1
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| Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
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| Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T.
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| J Clin Endocrinol Metab 80(9):2594-8.PMID: 7673400 1995
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| 23 | 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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| 24 | 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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| 25 | HHC1, HHC2, D3S1215
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| Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity.
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| Heath H, et al.
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| Am J Hum Genet 53 : 193-200. 1993
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| 26 | HHC1, D3S47
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| The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.
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| Chou YHW, et al.
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| Nat Genet 1 : 295-300. 1992
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