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733 related items for PubMed ID: 12412774

  • 1. The pathophysiology of primary hyperparathyroidism.
    Brown EM.
    J Bone Miner Res; 2002 Nov; 17 Suppl 2():N24-9. PubMed ID: 12412774
    [Abstract] [Full Text] [Related]

  • 2. 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; 2000 Oct; 16(4):281-96. PubMed ID: 11013439
    [Abstract] [Full Text] [Related]

  • 3. 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; 2005 Jun 15; 14(12):1679-90. PubMed ID: 15879434
    [Abstract] [Full Text] [Related]

  • 4. The calcium-sensing receptor (CaR) permits Ca2+ to function as a versatile extracellular first messenger.
    Brown EM, Chattopadhyay N, Vassilev PM, Hebert SC.
    Recent Prog Horm Res; 1998 Jun 15; 53():257-80; discussion 280-1. PubMed ID: 9769711
    [Abstract] [Full Text] [Related]

  • 5. [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
    Watanabe S, Fukumoto S.
    Nihon Rinsho; 2002 Feb 15; 60(2):325-30. PubMed ID: 11857921
    [Abstract] [Full Text] [Related]

  • 6. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE.
    Nat Genet; 1995 Dec 15; 11(4):389-94. PubMed ID: 7493018
    [Abstract] [Full Text] [Related]

  • 7. Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium.
    Brown EM.
    Endocrinol Metab Clin North Am; 2000 Sep 15; 29(3):503-22. PubMed ID: 11033758
    [Abstract] [Full Text] [Related]

  • 8. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN.
    J Clin Invest; 1997 Apr 15; 99(8):1917-25. PubMed ID: 9109436
    [Abstract] [Full Text] [Related]

  • 9. Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.
    Grant MP, Stepanchick A, Breitwieser GE.
    Mol Endocrinol; 2012 Dec 15; 26(12):2081-91. PubMed ID: 23077345
    [Abstract] [Full Text] [Related]

  • 10. An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    D'Souza-Li L, Canaff L, Janicic N, Cole DE, Hendy GN.
    Hum Mutat; 2001 Nov 15; 18(5):411-21. PubMed ID: 11668634
    [Abstract] [Full Text] [Related]

  • 11. Calcium-sensing receptor and associated diseases.
    Hendy GN, Guarnieri V, Canaff L.
    Prog Mol Biol Transl Sci; 2009 Nov 15; 89():31-95. PubMed ID: 20374733
    [Abstract] [Full Text] [Related]

  • 12. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
    Pidasheva S, D'Souza-Li L, Canaff L, Cole DE, Hendy GN.
    Hum Mutat; 2004 Aug 15; 24(2):107-11. PubMed ID: 15241791
    [Abstract] [Full Text] [Related]

  • 13. Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene.
    Yamauchi M, Sugimoto T, Yamaguchi T, Yano S, Wang J, Bai M, Brown EM, Chihara K.
    J Bone Miner Res; 2002 Dec 15; 17(12):2174-82. PubMed ID: 12469911
    [Abstract] [Full Text] [Related]

  • 14. 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; 2002 Mar 15; 87(3):1309-18. PubMed ID: 11889203
    [Abstract] [Full Text] [Related]

  • 15. 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; 2016 Nov 15; 175(5):421-31. PubMed ID: 27666534
    [Abstract] [Full Text] [Related]

  • 16. 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; 2006 Jul 15; 15(14):2200-9. PubMed ID: 16740594
    [Abstract] [Full Text] [Related]

  • 17. Molecular pathogenesis of primary hyperparathyroidism.
    Cetani F, Pardi E, Borsari S, Marcocci C.
    J Endocrinol Invest; 2011 Jul 15; 34(7 Suppl):35-9. PubMed ID: 21985978
    [Abstract] [Full Text] [Related]

  • 18. Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
    Felderbauer P, Hoffmann P, Klein W, Bulut K, Ansorge N, Epplen JT, Schmitz F, Schmidt WE.
    Exp Clin Endocrinol Diabetes; 2005 Jan 15; 113(1):31-4. PubMed ID: 15662592
    [Abstract] [Full Text] [Related]

  • 19. The role of the extracellular calcium-sensing receptor in health and disease.
    Raue F, Haag C, Schulze E, Frank-Raue K.
    Exp Clin Endocrinol Diabetes; 2006 Sep 15; 114(8):397-405. PubMed ID: 17039419
    [Abstract] [Full Text] [Related]

  • 20. The calcium-sensing receptor: physiology, pathophysiology and CaR-based therapeutics.
    Brown EM.
    Subcell Biochem; 2007 Sep 15; 45():139-67. PubMed ID: 18193637
    [Abstract] [Full Text] [Related]

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